Variant report

Variant	rs4519749
Chromosome Location	chr4:1280102-1280103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:1280060-1280210	HVMF	connective:	n/a	n/a
2	CTCF	chr4:1279938-1280238	K562	blood:	n/a	n/a
3	RAD21	chr4:1279907-1280317	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:1280049-1280218	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chr4:1279969-1280277	K562	blood:	n/a	n/a
6	CTCF	chr4:1280020-1280170	AG09319	gingival:	n/a	n/a
7	RAD21	chr4:1279925-1280289	A549	lung:	n/a	n/a
8	CTCF	chr4:1280079-1280209	Lung_OC	lung:	n/a	n/a
9	MAX	chr4:1279993-1280303	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:1280020-1280170	GM12867	blood:	n/a	n/a
11	CTCF	chr4:1280080-1280230	HMF	breast:	n/a	n/a
12	CTCF	chr4:1280039-1280223	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr4:1280100-1280250	GM12871	blood:	n/a	n/a
14	CTCF	chr4:1280020-1280170	GM12878	blood:	n/a	n/a
15	CTCF	chr4:1280060-1280240	A549	lung:	n/a	n/a
16	CTCF	chr4:1280080-1280230	WERI-Rb-1	eye:	n/a	n/a
17	RAD21	chr4:1279828-1280368	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:1280020-1280170	AG04450	lung:	n/a	n/a
19	CTCF	chr4:1280040-1280190	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr4:1280100-1280250	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr4:1280084-1280186	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr4:1280080-1280230	AG09309	skin:	n/a	n/a
23	CTCF	chr4:1280018-1280228	GM19240	blood:	n/a	n/a
24	CTCF	chr4:1280080-1280230	AG04449	skin:	n/a	n/a
25	CTCF	chr4:1280040-1280190	AG09309	skin:	n/a	n/a
26	CTCF	chr4:1280080-1280230	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr4:1280020-1280170	HCFaa	heart:	n/a	n/a
28	CTCF	chr4:1280021-1280270	K562	blood:	n/a	n/a
29	E2F6	chr4:1279999-1280179	K562	blood:	n/a	n/a
30	CTCF	chr4:1279997-1280292	IMR90	lung:	n/a	n/a
31	RAD21	chr4:1280039-1280222	K562	blood:	n/a	n/a
32	CTCF	chr4:1280060-1280210	BE2_C	brain:	n/a	n/a
33	CTCF	chr4:1280060-1280210	NHLF	lung:	n/a	n/a
34	CTCF	chr4:1280040-1280190	GM12864	blood:	n/a	n/a
35	CTCF	chr4:1279960-1280110	WI-38	lung:	n/a	n/a
36	CTCF	chr4:1280046-1280253	HepG2	liver:	n/a	n/a
37	CTCF	chr4:1280040-1280190	GM12873	blood:	n/a	n/a
38	CTCF	chr4:1280060-1280210	K562	blood:	n/a	n/a
39	MAX	chr4:1279948-1280199	K562	blood:	n/a	n/a
40	CTCF	chr4:1280061-1280218	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr4:1280080-1280230	HPAF	blood vessel:	n/a	n/a
42	MXI1	chr4:1279956-1280224	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMC3	chr4:1280008-1280172	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr4:1280024-1280245	Fibrobl	skin:	n/a	n/a
45	CTCF	chr4:1280020-1280170	GM12870	blood:	n/a	n/a
46	CTCF	chr4:1280051-1280221	ProgFib	skin:	n/a	n/a
47	SETDB1	chr4:1279949-1280430	U2OS	brain:	n/a	n/a
48	CTCF	chr4:1280028-1280241	A549	lung:	n/a	n/a
49	USF1	chr4:1279909-1280281	H1-hESC	embryonic stem cell:	n/a	chr4:1280112-1280123
50	CTCF	chr4:1280060-1280210	AG09319	gingival:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1280066-1280116	HRPEpiC	eye:	n/a
2	chr4:1280066-1280116	AG10803	skin:	n/a
3	chr4:1280066-1280116	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:1280066-1280116	HCT-116	colon:	n/a
5	chr4:1280066-1280116	NHDF-neo	bronchial:	n/a
6	chr4:1280066-1280116	HL-60	blood:	n/a
7	chr4:1280066-1280116	HEEpiC	esophagus:	n/a
8	chr4:1280066-1280116	Hela-S3	cervix:	n/a
9	chr4:1280066-1280116	SKMC	muscle:	n/a
10	chr4:1280066-1280116	K562	blood:	n/a
11	chr4:1280066-1280116	HRE	kidney:	n/a
12	chr4:1280066-1280116	SAEC	small airway:	n/a
13	chr4:1280066-1280116	SK-N-SH	brain:	n/a
14	chr4:1280066-1280116	HCF	heart:	n/a
15	chr4:1280066-1280116	T-47D	breast:	n/a
16	chr4:1280066-1280116	PFSK-1	brain:	n/a
17	chr4:1280066-1280116	CMK	blood:	n/a
18	chr4:1280066-1280116	SK-N-MC	brain:	n/a
19	chr4:1280066-1280116	GM12891	blood:	n/a
20	chr4:1280066-1280116	H1-hESC	embryonic stem cell:	embryo
21	chr4:1280066-1280116	ProgFib	skin:	n/a
22	chr4:1280066-1280116	HCPEpiC	choroid plexus:	n/a
23	chr4:1280066-1280116	Hepatocyte	liver:	n/a
24	chr4:1280066-1280116	HUVEC	blood vessel:	n/a
25	chr4:1280066-1280116	GM12892	blood:	n/a
26	chr4:1280066-1280116	U87	brain:	n/a
27	chr4:1280066-1280116	A549	lung:	n/a
28	chr4:1280066-1280116	HEK293	kidney:	embryo
29	chr4:1280066-1280116	BJ	skin:	n/a
30	chr4:1280066-1280116	HepG2	liver:	n/a
31	chr4:1280066-1280116	HAEpiC	amniotic membrane:	n/a
32	chr4:1280066-1280116	NHBE	bronchial:	n/a
33	chr4:1280066-1280116	PANC-1	pancreas:	n/a
34	chr4:1280066-1280116	HMEC	breast:	n/a
35	chr4:1280066-1280116	AG04449	skin:	fetal
36	chr4:1280066-1280116	PrEC	prostate:	n/a
37	chr4:1280066-1280116	AoSMC	blood vessel:	n/a
38	chr4:1280066-1280116	LNCaP	prostate:	n/a
39	chr4:1280066-1280116	NB4	blood:	n/a
40	chr4:1280066-1280116	AG09319	gingival:	n/a
41	chr4:1280066-1280116	MCF10A-Er-Src	breast:	n/a
42	chr4:1280066-1280116	ovcar-3	ovarian:	n/a
43	chr4:1280066-1280116	HIPEpiC	eye:	n/a
44	chr4:1280066-1280116	Jurkat	blood:	n/a
45	chr4:1280066-1280116	GM12878	blood:	n/a
46	chr4:1280066-1280116	SK-N-SH_RA	brain:	n/a
47	chr4:1280066-1280116	BE2_C	brain:	n/a
48	chr4:1280066-1280116	HRCEpiC	kidney:	n/a
49	chr4:1280066-1280116	GM06990	blood:	n/a
50	chr4:1280066-1280116	Caco-2	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1279366..1281863-chr4:1281921..1284803,4	MCF-7	breast:
2	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
3	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
4	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
5	chr4:1277701..1281340-chr4:1281394..1284175,9	K562	blood:
6	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
7	chr4:1076538..1078176-chr4:1278229..1280499,2	MCF-7	breast:
8	chr4:1276332..1280187-chr4:1281301..1284175,8	K562	blood:
9	chr4:1266374..1269150-chr4:1278693..1281595,2	K562	blood:

No data

Variant related genes	Relation type
MAEA	TF binding region
MAEA	CpG island
ENSG00000090316	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10000874	0.88[EUR][1000 genomes]
rs10023922	0.89[EUR][1000 genomes]
rs10024013	0.85[EUR][1000 genomes]
rs11247983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11247984	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11247986	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11247987	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11247994	0.90[JPT][hapmap]
rs11247996	0.90[JPT][hapmap]
rs11721789	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs11726778	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11727167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730939	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11735340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12499546	0.86[CEU][hapmap]
rs12502916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508446	0.92[CEU][hapmap]
rs12512607	1.00[YRI][hapmap]
rs12641735	0.86[CEU][hapmap]
rs12642396	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12642410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12647145	0.89[CHB][hapmap]
rs13108904	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13109112	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13110563	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs13112706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13115173	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs13119532	0.82[EUR][1000 genomes]
rs13124383	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13124847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13125338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13125842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13128045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13134106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13135102	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13141992	0.90[JPT][hapmap]
rs13142772	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13149575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13149952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13150571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1316393	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1316419	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1564508	0.85[CEU][hapmap]
rs1618072	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1620928	0.89[EUR][1000 genomes]
rs1680072	0.89[EUR][1000 genomes]
rs1680073	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs1680074	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs1732099	0.89[EUR][1000 genomes]
rs1732100	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs1732102	0.89[EUR][1000 genomes]
rs1732106	0.80[EUR][1000 genomes]
rs1732107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1732108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1732123	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1732124	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1960426	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2199956	0.85[CEU][hapmap]
rs2279281	0.85[CEU][hapmap]
rs2291199	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs2293635	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2335855	0.85[CEU][hapmap]
rs2878567	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28811276	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755920	0.85[CEU][hapmap]
rs3775099	1.00[YRI][hapmap]
rs3796616	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3915420	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4045131	1.00[YRI][hapmap]
rs4246685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4405964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4428235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4516656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642180	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974545	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4974574	1.00[YRI][hapmap]
rs4974582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974584	0.89[EUR][1000 genomes]
rs4974594	0.85[CEU][hapmap]
rs4974596	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4974602	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs4974603	0.90[JPT][hapmap]
rs62293658	0.89[EUR][1000 genomes]
rs66987549	0.85[EUR][1000 genomes]
rs6822570	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs6826415	0.90[JPT][hapmap]
rs7670046	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671242	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7673398	0.85[CEU][hapmap]
rs7695691	0.85[CEU][hapmap]
rs900027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs922698	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9631804	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs9631805	0.84[EUR][1000 genomes]
rs9992932	0.88[EUR][1000 genomes]
rs9992934	0.84[EUR][1000 genomes]
rs9993660	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
6	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
13	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	esv1811773	chr4:1228251-1287474	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	esv1800629	chr4:1228451-1287274	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
16	esv1812851	chr4:1228451-1287274	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
17	esv1823612	chr4:1228451-1287274	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
18	esv1825633	chr4:1228451-1287274	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
19	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv461156	chr4:1254930-1312394	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv593299	chr4:1254930-1312394	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	esv1798897	chr4:1265740-1287474	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
23	esv1833294	chr4:1265740-1287474	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	esv1829934	chr4:1265940-1287274	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
25	nsv593300	chr4:1272664-1312394	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
27	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
28	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
29	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4519749	CRIPAK	cis	Thyroid	GTEx
rs4519749	MAEA	cis	Thyroid	GTEx
rs4519749	CRIPAK	cis	Esophagus Mucosa	GTEx
rs4519749	UVSSA	cis	Thyroid	GTEx
rs4519749	UVSSA	cis	Whole Blood	GTEx
rs4519749	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs4519749	CTBP1	cis	multi-tissue	Pritchard
rs4519749	MAEA	cis	Nerve Tibial	GTEx
rs4519749	UVSSA	cis	Stomach	GTEx
rs4519749	CTBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1245400-1282400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:1245800-1282600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:1245800-1282600	Weak transcription	Right Ventricle	heart
4	chr4:1246000-1282600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:1254800-1282400	Weak transcription	Pancreas	Pancrea
6	chr4:1259400-1283000	Weak transcription	Ovary	ovary
7	chr4:1263400-1282600	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:1263800-1282800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:1267800-1282400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:1270600-1282400	Weak transcription	Lung	lung
11	chr4:1278800-1281000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:1279600-1280600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr4:1279800-1280200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:1280000-1280400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
15	chr4:1280000-1280400	ZNF genes & repeats	Spleen	Spleen
16	chr4:1280000-1280600	ZNF genes & repeats	Fetal Intestine Small	intestine

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