Variant report

Variant	rs368259227
Chromosome Location	chr4:10459314-10459315
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	POLR2A	chr4:10458208-10459346	GM18505	blood:	n/a	n/a
2	E2F6	chr4:10458638-10459406	A549	lung:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138 chr4:10458680-10458691
3	POLR2A	chr4:10458236-10459340	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr4:10458001-10459464	A549	lung:	n/a	chr4:10458720-10458729
5	UBTF	chr4:10458839-10460197	K562	blood:	n/a	n/a
6	BHLHE40	chr4:10459217-10460106	K562	blood:	n/a	n/a
7	POLR2A	chr4:10458014-10459351	PBDE	blood:	n/a	n/a
8	SETDB1	chr4:10458127-10459374	K562	blood:	n/a	chr4:10459062-10459071
9	E2F6	chr4:10458136-10459409	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10458501-10458513 chr4:10458501-10458510 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138 chr4:10458680-10458691
10	POLR2A	chr4:10458027-10459413	K562	blood:	n/a	n/a
11	NANOG	chr4:10458920-10459314	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr4:10457933-10460233	K562	blood:	n/a	chr4:10458720-10458729 chr4:10459964-10459974
13	ZMIZ1	chr4:10459302-10459678	K562	blood:	n/a	n/a
14	POLR2A	chr4:10458775-10459330	SK-N-MC	brain:	n/a	n/a
15	ELF1	chr4:10458038-10459429	GM12878	blood:	n/a	chr4:10459128-10459140 chr4:10459042-10459054 chr4:10458442-10458455
16	MAZ	chr4:10458905-10459428	GM12878	blood:	n/a	n/a
17	MYC	chr4:10458887-10459430	K562	blood:	n/a	n/a
18	POLR2A	chr4:10458192-10459320	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:10458199-10459318	GM15510	blood:	n/a	n/a
20	POLR2A	chr4:10458806-10459784	K562	blood:	n/a	n/a
21	CHD2	chr4:10458975-10459466	GM12878	blood:	n/a	n/a
22	SETDB1	chr4:10458972-10459746	U2OS	brain:	n/a	chr4:10459062-10459071
23	HMGN3	chr4:10458137-10459452	K562	blood:	n/a	n/a
24	RCOR1	chr4:10458894-10460163	K562	blood:	n/a	n/a
25	MXI1	chr4:10458957-10459379	H1-hESC	embryonic stem cell:	n/a	n/a
26	NRF1	chr4:10458828-10459351	SK-N-SH	brain:	n/a	chr4:10459079-10459090 chr4:10459044-10459055 chr4:10459061-10459072 chr4:10459061-10459072 chr4:10459061-10459075 chr4:10459058-10459072 chr4:10459063-10459072
27	POLR2A	chr4:10458219-10459348	GM18526	blood:	n/a	n/a
28	MAX	chr4:10458078-10459317	A549	lung:	n/a	chr4:10458720-10458729
29	POLR2A	chr4:10458187-10459332	GM18951	blood:	n/a	n/a
30	POLR2A	chr4:10457977-10460336	K562	blood:	n/a	n/a
31	E2F6	chr4:10458850-10459519	H1-hESC	embryonic stem cell:	n/a	chr4:10459082-10459091 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138
32	E2F6	chr4:10458047-10460188	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459969-10459978 chr4:10458501-10458513 chr4:10459963-10459972 chr4:10458501-10458510 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10458090-10458099 chr4:10459129-10459138 chr4:10458680-10458691
33	TBP	chr4:10458876-10459611	K562	blood:	n/a	n/a
34	POLR2A	chr4:10458768-10460210	K562	blood:	n/a	n/a
35	MAX	chr4:10457949-10459457	HCT-116	colon:	n/a	chr4:10458720-10458729
36	POLR2A	chr4:10458087-10460407	K562	blood:	n/a	n/a
37	MTA3	chr4:10459008-10459661	GM12878	blood:	n/a	n/a
38	SIN3A	chr4:10458909-10459353	H1-hESC	embryonic stem cell:	n/a	chr4:10459048-10459061
39	MAZ	chr4:10458846-10460120	K562	blood:	n/a	chr4:10459964-10459974
40	POLR2A	chr4:10449651-10461479	K562	blood:	n/a	n/a
41	MAX	chr4:10458823-10459532	K562	blood:	n/a	n/a
42	POLR2A	chr4:10458774-10459333	K562	blood:	n/a	n/a
43	POLR2A	chr4:10458746-10459333	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:10458344-10460267	K562	blood:	n/a	n/a
45	EGR1	chr4:10458901-10459332	H1-hESC	embryonic stem cell:	n/a	chr4:10459062-10459071 chr4:10459130-10459143 chr4:10459130-10459140 chr4:10459130-10459143 chr4:10459131-10459140 chr4:10459127-10459141 chr4:10459130-10459143

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
2	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:

Variant related genes	Relation type
ZNF518B	TF binding region
ENSG00000223086	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak 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	56 gene(s)	inside rSNPs	diseases
5	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
7	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
14	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
16	nsv1000177	chr4:10212245-10557776	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537037	chr4:10212245-10557776	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv829858	chr4:10300236-10492716	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv2757921	chr4:10343699-10545800	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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	13 gene(s)	inside rSNPs	diseases
20	esv2759223	chr4:10343699-10545800	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1811736	chr4:10454409-10467939	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
25	esv3327627	chr4:10457679-10460227	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
26	esv3524208	chr4:10457904-10460002	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
27	esv3524209	chr4:10457904-10460002	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10457600-10459600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:10457600-10459600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:10457600-10459600	Active TSS	Fetal Kidney	kidney
4	chr4:10457600-10459600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:10457600-10460000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:10457800-10459400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr4:10457800-10459400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:10457800-10459400	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:10457800-10459400	Active TSS	NHLF	lung
10	chr4:10457800-10459600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:10457800-10459600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:10457800-10459600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:10457800-10459600	Active TSS	A549	lung
14	chr4:10457800-10459600	Active TSS	HSMM	muscle
15	chr4:10457800-10459600	Active TSS	HSMMtube	muscle
16	chr4:10458000-10459400	Active TSS	Aorta	Aorta
17	chr4:10458000-10459400	Active TSS	Liver	Liver
18	chr4:10458000-10459400	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:10458000-10459600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:10458000-10459800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:10458000-10459800	Active TSS	Fetal Lung	lung
22	chr4:10458200-10459400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:10458200-10459400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:10458200-10459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:10458200-10459400	Active TSS	Primary T cells from cord blood	blood
26	chr4:10458200-10459600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:10458200-10459600	Active TSS	Small Intestine	intestine
28	chr4:10458200-10459600	Active TSS	Osteobl	bone
29	chr4:10458200-10459800	Active TSS	Colon Smooth Muscle	Colon
30	chr4:10458400-10459400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:10458400-10459400	Active TSS	Brain Substantia Nigra	brain
32	chr4:10458400-10459400	Active TSS	Colonic Mucosa	Colon
33	chr4:10458400-10459400	Active TSS	Psoas Muscle	Psoas
34	chr4:10458400-10459600	Active TSS	Brain Germinal Matrix	brain
35	chr4:10458400-10459600	Active TSS	Ovary	ovary
36	chr4:10458400-10459600	Active TSS	NH-A	brain
37	chr4:10458400-10460000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:10458600-10460000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:10459000-10459400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:10459000-10459400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:10459000-10459400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:10459000-10459400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr4:10459000-10459400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr4:10459000-10459400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:10459000-10459400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:10459000-10459400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:10459000-10459400	Flanking Active TSS	Pancreas	Pancrea
48	chr4:10459000-10459600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr4:10459000-10459800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr4:10459200-10459400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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