Variant report

Variant	rs1398007
Chromosome Location	chr4:187112832-187112833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:187112719-187112910	Gliobla	brain:	n/a	n/a
2	POLR2A	chr4:187112110-187113162	HCT-116	colon:	n/a	n/a
3	BHLHE40	chr4:187112379-187112888	HepG2	liver:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112853-187112869
4	MYC	chr4:187112595-187112883	H1-hESC	embryonic stem cell:	n/a	chr4:187112789-187112798
5	POU2F2	chr4:187112165-187113266	GM12878	blood:	n/a	n/a
6	EGR1	chr4:187112493-187112932	GM12878	blood:	n/a	chr4:187112747-187112757 chr4:187112921-187112930 chr4:187112921-187112931 chr4:187112636-187112645 chr4:187112889-187112896 chr4:187112921-187112931
7	E2F6	chr4:187111791-187113755	K562	blood:	n/a	chr4:187112821-187112828 chr4:187112820-187112829 chr4:187112821-187112828 chr4:187112821-187112828 chr4:187112817-187112829 chr4:187112416-187112425
8	CTCF	chr4:187112635-187112916	HepG2	liver:	n/a	n/a
9	RELA	chr4:187112402-187113441	GM19099	blood:	n/a	n/a
10	ETS1	chr4:187112394-187112987	GM12878	blood:	n/a	chr4:187112636-187112653 chr4:187112636-187112645 chr4:187112636-187112645 chr4:187112636-187112645 chr4:187112477-187112492 chr4:187112740-187112753 chr4:187112637-187112647 chr4:187112636-187112645 chr4:187112636-187112645
11	MAX	chr4:187112042-187113233	HepG2	liver:	n/a	chr4:187112789-187112798
12	ZEB1	chr4:187112658-187112867	GM12878	blood:	n/a	n/a
13	REST	chr4:187112135-187113017	HL-60	blood:	n/a	chr4:187112745-187112763 chr4:187112750-187112764 chr4:187112855-187112868 chr4:187112747-187112760 chr4:187112752-187112762
14	YY1	chr4:187111838-187113340	HepG2	liver:	n/a	chr4:187112808-187112817 chr4:187112767-187112781 chr4:187113226-187113237 chr4:187112955-187112964 chr4:187112955-187112966 chr4:187111995-187112006 chr4:187112584-187112595 chr4:187112146-187112157 chr4:187112656-187112670
15	NFIC	chr4:187112378-187112885	GM12878	blood:	n/a	n/a
16	HCFC1	chr4:187111907-187113753	Hela-S3	cervix:	n/a	n/a
17	NR2F2	chr4:187112086-187112933	K562	blood:	n/a	chr4:187112594-187112609
18	ELF1	chr4:187112361-187112903	MCF-7	breast:	n/a	chr4:187112627-187112639 chr4:187112657-187112669 chr4:187112768-187112780 chr4:187112632-187112645
19	GABPA	chr4:187112468-187112842	GM12878	blood:	n/a	n/a
20	TAF1	chr4:187112228-187113240	HepG2	liver:	n/a	n/a
21	ZNF143	chr4:187111853-187113356	GM12878	blood:	n/a	chr4:187112659-187112669 chr4:187112774-187112784 chr4:187112196-187112214 chr4:187112187-187112205 chr4:187112810-187112820
22	MYC	chr4:187111796-187113193	MCF10A-Er-Src	breast:	n/a	chr4:187112789-187112798
23	KAP1	chr4:187112271-187112870	U2OS	brain:	n/a	n/a
24	CTCF	chr4:187112720-187112870	SAEC	small airway:	n/a	n/a
25	HA-E2F1	chr4:187111940-187113480	MCF-7	breast:	n/a	chr4:187112821-187112828 chr4:187112820-187112829 chr4:187112821-187112828 chr4:187112821-187112828 chr4:187112817-187112829 chr4:187112416-187112425
26	POLR2A	chr4:187110925-187113711	GM12892	blood:	n/a	n/a
27	CHD2	chr4:187112430-187112840	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr4:187112551-187113002	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
29	GABPA	chr4:187112414-187112864	Hela-S3	cervix:	n/a	n/a
30	SRF	chr4:187112353-187112912	ECC-1	luminal epithelium:	n/a	chr4:187112897-187112907
31	GABPA	chr4:187112232-187112950	MCF-7	breast:	n/a	n/a
32	TAL1	chr4:187112475-187113088	K562	blood:	n/a	n/a
33	YY1	chr4:187112105-187113532	SK-N-SH	brain:	n/a	chr4:187112808-187112817 chr4:187112767-187112781 chr4:187113226-187113237 chr4:187112955-187112964 chr4:187112955-187112966 chr4:187112584-187112595 chr4:187112146-187112157 chr4:187112656-187112670
34	BCL3	chr4:187112454-187113086	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
35	ATF2	chr4:187112363-187112834	GM12878	blood:	n/a	n/a
36	CTCF	chr4:187112740-187112890	SAEC	small airway:	n/a	n/a
37	GATA2	chr4:187112390-187113192	SH-SY5Y	brain:	n/a	chr4:187112493-187112503
38	BCLAF1	chr4:187112371-187112924	K562	blood:	n/a	chr4:187112372-187112380 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
39	CTCF	chr4:187112740-187112890	GM12865	blood:	n/a	n/a
40	ZKSCAN1	chr4:187111940-187112897	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr4:187112316-187112938	HepG2	liver:	n/a	n/a
42	PML	chr4:187112130-187113026	K562	blood:	n/a	n/a
43	HDAC2	chr4:187112410-187113049	H1-hESC	embryonic stem cell:	n/a	chr4:187112492-187112506
44	POLR2A	chr4:187110960-187113665	GM18505	blood:	n/a	n/a
45	MAX	chr4:187111760-187113586	A549	lung:	n/a	chr4:187112789-187112798
46	GABPA	chr4:187112307-187112968	HepG2	liver:	n/a	n/a
47	MAZ	chr4:187111674-187113855	IMR90	lung:	n/a	chr4:187112789-187112798
48	TCF7L2	chr4:187112318-187113150	HCT-116	colon:	n/a	n/a
49	REST	chr4:187112502-187112915	K562	blood:	n/a	chr4:187112745-187112763 chr4:187112750-187112764 chr4:187112855-187112868 chr4:187112747-187112760 chr4:187112752-187112762
50	MEF2A	chr4:187112339-187112912	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:187111478..187116148-chr4:187117012..187120938,6	MCF-7	breast:
2	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
3	chr2:10182889..10183701-chr4:187112369..187113247,2	Hela-S3	cervix:
4	chr4:187111874..187113781-chr4:187171263..187172793,2	MCF-7	breast:
5	chr4:187062784..187065890-chr4:187111242..187113420,3	MCF-7	breast:
6	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
7	chr15:69111702..69112637-chr4:187112678..187113182,2	Hela-S3	cervix:
8	chr12:52452615..52453609-chr4:187112686..187113538,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000269302	TF binding region
CYP4V2	TF binding region
ENSG00000172059	Chromatin interaction
ENSG00000251008	Chromatin interaction
ENSG00000259884	Chromatin interaction
ENSG00000164344	Chromatin interaction
ENSG00000109794	Chromatin interaction
ENSG00000145476	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10017419	0.87[ASN][1000 genomes]
rs10024936	0.81[ASN][1000 genomes]
rs10027488	0.87[ASN][1000 genomes]
rs1055138	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13104952	0.85[ASN][1000 genomes]
rs13132623	0.87[ASN][1000 genomes]
rs13135693	0.85[ASN][1000 genomes]
rs13135744	0.87[ASN][1000 genomes]
rs1877319	0.87[ASN][1000 genomes]
rs2036912	0.85[ASN][1000 genomes]
rs2036913	0.85[ASN][1000 genomes]
rs28465054	0.87[ASN][1000 genomes]
rs28545770	0.87[ASN][1000 genomes]
rs35168015	0.86[ASN][1000 genomes]
rs35575344	0.85[ASN][1000 genomes]
rs4241814	0.82[ASN][1000 genomes]
rs4453976	0.87[ASN][1000 genomes]
rs4586997	0.87[ASN][1000 genomes]
rs4645255	0.86[ASN][1000 genomes]
rs4861705	0.86[ASN][1000 genomes]
rs4862656	0.82[ASN][1000 genomes]
rs4862657	0.81[ASN][1000 genomes]
rs4862659	0.87[ASN][1000 genomes]
rs4862661	0.87[ASN][1000 genomes]
rs55871461	0.87[ASN][1000 genomes]
rs6814453	0.85[ASN][1000 genomes]
rs6816903	0.87[ASN][1000 genomes]
rs6816942	0.87[ASN][1000 genomes]
rs6818108	0.87[ASN][1000 genomes]
rs6818109	0.87[ASN][1000 genomes]
rs6822335	0.84[ASN][1000 genomes]
rs7376464	0.87[ASN][1000 genomes]
rs7666666	0.86[ASN][1000 genomes]
rs7666985	0.87[ASN][1000 genomes]
rs7667932	0.87[ASN][1000 genomes]
rs7668705	0.86[ASN][1000 genomes]
rs7689798	0.87[ASN][1000 genomes]
rs7689823	0.87[ASN][1000 genomes]
rs7691348	0.87[ASN][1000 genomes]
rs7696233	0.81[ASN][1000 genomes]
rs9991610	0.86[ASN][1000 genomes]
rs9991842	0.87[ASN][1000 genomes]
rs9991999	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv931977	chr4:186912987-187364756	Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv880835	chr4:186929226-187122319	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv461860	chr4:186929226-187131504	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv596389	chr4:186929226-187131504	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1026585	chr4:186929542-187130319	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv537426	chr4:186929542-187130319	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv880572	chr4:186929646-187122319	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv881037	chr4:186929646-187127817	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv461861	chr4:186929646-187129995	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv596390	chr4:186929646-187129995	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv880709	chr4:186929646-187131384	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv880451	chr4:186929646-187148071	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv880596	chr4:186931910-187127817	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv880996	chr4:186931910-187131384	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
19	nsv461863	chr4:186931910-187131504	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv470097	chr4:186931910-187131504	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
21	nsv596391	chr4:186931910-187131504	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
22	nsv1027118	chr4:186935586-187133222	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
23	nsv537427	chr4:186935586-187133222	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
24	nsv1027514	chr4:186935786-187133083	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
25	nsv537428	chr4:186935786-187133083	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
26	nsv1015725	chr4:186936404-187130319	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv537429	chr4:186936404-187130319	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv881454	chr4:186944884-187131384	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
29	nsv869299	chr4:186958290-187192748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
30	nsv880981	chr4:186961015-187148071	Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
31	nsv880485	chr4:186978366-187148071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
32	nsv1033203	chr4:186990348-187333476	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
33	nsv537431	chr4:186990348-187333476	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
34	nsv880744	chr4:187004074-187127817	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
35	nsv881579	chr4:187004074-187148071	Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
36	nsv461864	chr4:187006806-187257004	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
37	nsv596392	chr4:187006806-187257004	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
38	nsv830172	chr4:187012765-187168424	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
39	nsv880408	chr4:187021315-187148071	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
40	nsv508340	chr4:187059173-187136958	Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
41	nsv461865	chr4:187072383-187366649	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
42	nsv596401	chr4:187072383-187366649	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
43	nsv1023019	chr4:187082701-187153933	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
44	nsv1022059	chr4:187082701-187183953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
45	nsv1015923	chr4:187084714-187139572	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
46	nsv537433	chr4:187084714-187139572	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
47	nsv4642	chr4:187085182-187136414	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1398007	FAM149A	cis	Esophagus Muscularis	GTEx
rs1398007	CYP4V2	Cis_1M	lymphoblastoid	RTeQTL
rs1398007	KLKB1	cis	Muscle Skeletal	GTEx
rs1398007	KLKB1	cis	Thyroid	GTEx
rs1398007	FAM149A	cis	lung	GTEx
rs1398007	DKFZP564J102	Cis_1M	lymphoblastoid	RTeQTL
rs1398007	FAM149A	cis	Nerve Tibial	GTEx
rs1398007	CYP4V2	cis	Muscle Skeletal	GTEx
rs1398007	FAM149A	cis	Muscle Skeletal	GTEx
rs1398007	F11	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187111200-187113200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:187111200-187113800	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr4:187111400-187113800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:187111400-187114000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:187111400-187114000	Active TSS	Fetal Intestine Large	intestine
6	chr4:187111400-187114000	Active TSS	Right Ventricle	heart
7	chr4:187111400-187114200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:187111400-187114200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr4:187111400-187114200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:187111400-187114200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:187111400-187114200	Active TSS	NHLF	lung
12	chr4:187111600-187113000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:187111600-187113000	Active TSS	Colonic Mucosa	Colon
14	chr4:187111600-187113400	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr4:187111600-187113400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr4:187111600-187113600	Active TSS	HSMM	muscle
17	chr4:187111600-187113800	Active TSS	Aorta	Aorta
18	chr4:187111600-187113800	Active TSS	Left Ventricle	heart
19	chr4:187111600-187113800	Active TSS	Lung	lung
20	chr4:187111600-187113800	Active TSS	Stomach Mucosa	stomach
21	chr4:187111600-187113800	Active TSS	A549	lung
22	chr4:187111600-187114000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:187111600-187114000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:187111600-187114000	Active TSS	Ovary	ovary
25	chr4:187111600-187114000	Active TSS	Psoas Muscle	Psoas
26	chr4:187111600-187114200	Active TSS	Colon Smooth Muscle	Colon
27	chr4:187111600-187114200	Active TSS	Fetal Brain Female	brain
28	chr4:187111600-187114400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:187111600-187114600	Active TSS	Right Atrium	heart
30	chr4:187111800-187113200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:187111800-187113400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:187111800-187113400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:187111800-187113400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr4:187111800-187113400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr4:187111800-187113400	Active TSS	Thymus	Thymus
36	chr4:187111800-187113400	Active TSS	Dnd41	blood
37	chr4:187111800-187113600	Active TSS	Gastric	stomach
38	chr4:187111800-187113800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:187111800-187113800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:187111800-187113800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:187111800-187113800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:187111800-187113800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:187111800-187113800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:187111800-187113800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:187111800-187113800	Active TSS	Brain Hippocampus Middle	brain
46	chr4:187111800-187113800	Active TSS	Fetal Lung	lung
47	chr4:187111800-187113800	Active TSS	Pancreas	Pancrea
48	chr4:187111800-187113800	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:187111800-187113800	Active TSS	Small Intestine	intestine
50	chr4:187111800-187113800	Active TSS	NHDF-Ad	bronchial

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