Variant report

Variant	rs61744067
Chromosome Location	chr6:26273497-26273498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26270354-26274437	Raji	blood:	n/a	n/a
2	POLR2A	chr6:26272932-26274224	Hela-S3	cervix:	n/a	n/a
3	RELA	chr6:26272777-26273652	GM19099	blood:	n/a	n/a
4	MAX	chr6:26273028-26273860	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:26266613-26275023	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr6:26270342-26274429	GM12878	blood:	n/a	n/a
7	ZBTB33	chr6:26272971-26273672	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:26272987-26274217	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:26272943-26274805	GM12892	blood:	n/a	n/a
10	CHD1	chr6:26269438-26274500	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr6:26273061-26273599	GM12892	blood:	n/a	n/a
12	RCOR1	chr6:26270357-26273588	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:26272992-26274381	GM18526	blood:	n/a	n/a
14	POLR2A	chr6:26268846-26274052	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:26269656-26274808	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr6:26272995-26273557	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr6:26272722-26273611	A549	lung:	n/a	chr6:26273080-26273101 chr6:26272906-26272927
18	CTCF	chr6:26273380-26273530	SAEC	small airway:	n/a	n/a
19	MAX	chr6:26272980-26273844	MCF-7	breast:	n/a	n/a
20	TAF1	chr6:26272950-26273625	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:26272087-26274531	HUVEC	blood vessel:	n/a	n/a
22	EBF1	chr6:26272979-26273613	GM12878	blood:	n/a	n/a
23	POU2F2	chr6:26272789-26273718	GM12878	blood:	n/a	chr6:26273112-26273122 chr6:26273113-26273124 chr6:26273109-26273127 chr6:26273114-26273122 chr6:26273111-26273123 chr6:26273113-26273122 chr6:26273112-26273122 chr6:26273111-26273125 chr6:26273114-26273121 chr6:26273113-26273123 chr6:26273110-26273125
24	ATF2	chr6:26272151-26273859	H1-hESC	embryonic stem cell:	n/a	n/a
25	MTA3	chr6:26272941-26273890	GM12878	blood:	n/a	n/a
26	WRNIP1	chr6:26272656-26273627	GM12878	blood:	n/a	n/a
27	TCF7L2	chr6:26273004-26273606	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:26273003-26274015	A549	lung:	n/a	n/a
29	SIN3AK20	chr6:26273054-26273615	A549	lung:	n/a	n/a
30	RUNX3	chr6:26272188-26273854	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:26272991-26274462	GM19099	blood:	n/a	n/a
32	RCOR1	chr6:26272712-26273605	GM12878	blood:	n/a	n/a
33	ATF2	chr6:26272563-26273821	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:26273007-26273718	HUVEC	blood vessel:	n/a	n/a
35	TCF3	chr6:26273044-26273835	GM12878	blood:	n/a	n/a
36	ZBTB33	chr6:26272745-26273844	SK-N-SH	brain:	n/a	n/a
37	REST	chr6:26273025-26273606	SK-N-SH	brain:	n/a	n/a
38	IRF4	chr6:26272896-26273634	GM12878	blood:	n/a	chr6:26273089-26273103
39	POLR2A	chr6:26272983-26274442	GM12892	blood:	n/a	n/a
40	HEY1	chr6:26272952-26273729	HepG2	liver:	n/a	n/a
41	MAX	chr6:26273210-26273536	HepG2	liver:	n/a	n/a
42	NFIC	chr6:26272628-26273885	GM12878	blood:	n/a	n/a
43	BCLAF1	chr6:26272899-26274569	GM12878	blood:	n/a	n/a
44	RELA	chr6:26272748-26274560	GM10847	blood:	n/a	n/a
45	POLR2A	chr6:26272453-26274170	GM15510	blood:	n/a	n/a
46	TCF12	chr6:26272814-26274269	A549	lung:	n/a	chr6:26273093-26273100
47	POLR2A	chr6:26269040-26274454	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:26272955-26274129	GM12891	blood:	n/a	n/a
49	REST	chr6:26272984-26273517	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr6:26272995-26274194	GM12878	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:207494905..207496421-chr6:26271169..26273910,2	MCF-7	breast:
2	chr6:26216502..26217073-chr6:26273264..26274587,3	Hela-S3	cervix:
3	chr6:26272978..26274527-chr6:27776343..27778592,2	MCF-7	breast:
4	chr6:26216717..26217473-chr6:26273095..26273596,2	MCF-7	breast:
5	chr17:56708998..56709587-chr6:26273090..26273695,2	Hela-S3	cervix:
6	chr6:26271163..26276024-chr6:27111926..27116309,5	MCF-7	breast:
7	chr5:33440116..33440950-chr6:26273029..26273571,2	Hela-S3	cervix:
8	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
9	chr6:26273199..26275817-chr6:26322608..26324495,2	MCF-7	breast:
10	chr6:26270978..26274693-chr6:27098356..27103484,7	MCF-7	breast:
11	chr19:34855991..34856520-chr6:26273085..26273718,2	Hela-S3	cervix:
12	chr6:26270164..26274435-chr6:27112425..27114820,4	MCF-7	breast:
13	chr6:26270273..26274919-chr6:27857077..27861037,6	MCF-7	breast:
14	chr6:26024260..26027949-chr6:26272859..26275159,3	MCF-7	breast:
15	chr6:26273305..26276123-chr6:26535998..26538001,3	K562	blood:
16	chr6:26271682..26274545-chr6:27832998..27834644,2	MCF-7	breast:
17	chr2:191744361..191746258-chr6:26273024..26275640,2	MCF-7	breast:
18	chr3:179958284..179960815-chr6:26273397..26275573,2	MCF-7	breast:
19	chr6:26033313..26036097-chr6:26273427..26274930,2	MCF-7	breast:
20	chr19:1268856..1271453-chr6:26271863..26274067,2	MCF-7	breast:
21	chr15:65588353..65589135-chr6:26272983..26273651,2	Hela-S3	cervix:
22	chr6:26269718..26276565-chr6:27099393..27105112,10	MCF-7	breast:
23	chr14:50153414..50155005-chr6:26272692..26275211,2	MCF-7	breast:
24	chr13:36919647..36921156-chr6:26271932..26274514,2	MCF-7	breast:
25	chr1:145382579..145383235-chr6:26273195..26274009,2	Hela-S3	cervix:
26	chr12:100591588..100593211-chr6:26271479..26273991,2	MCF-7	breast:
27	chr1:156252625..156254328-chr6:26272141..26274407,2	MCF-7	breast:
28	chr6:26020614..26023729-chr6:26272152..26276212,4	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3G	TF binding region
HIST1H2APS4	TF binding region
ENSG00000197903	Chromatin interaction
ENSG00000249572	Chromatin interaction
ENSG00000100479	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000267493	Chromatin interaction
ENSG00000120664	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000075089	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000163472	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000133104	Chromatin interaction
ENSG00000105220	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000187990	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1150661	1.00[ASN][1000 genomes]
rs1150662	1.00[ASN][1000 genomes]
rs1179007	1.00[ASN][1000 genomes]
rs35942569	1.00[ASN][1000 genomes]
rs62625345	1.00[ASN][1000 genomes]
rs707900	1.00[ASN][1000 genomes]
rs707903	1.00[ASN][1000 genomes]
rs807208	1.00[ASN][1000 genomes]
rs807209	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers 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	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer 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	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
12	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
13	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
14	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
15	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26269000-26274200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:26269000-26274800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:26269200-26274600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:26269200-26274600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:26269400-26274400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:26269400-26274400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:26269400-26274800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:26269400-26275000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:26269800-26274400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:26269800-26274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:26269800-26274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:26269800-26274800	Active TSS	NHLF	lung
13	chr6:26270000-26274200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:26270000-26274600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:26270000-26274800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:26270200-26274400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:26270200-26274800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:26270400-26273600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:26270400-26274200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:26270400-26275400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:26270600-26274400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:26270600-26274600	Active TSS	Dnd41	blood
23	chr6:26270600-26274800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:26270600-26275000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:26270800-26274600	Active TSS	GM12878-XiMat	blood
26	chr6:26271000-26274000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:26271200-26274400	Active TSS	Esophagus	oesophagus
28	chr6:26271200-26274400	Active TSS	Small Intestine	intestine
29	chr6:26271200-26274600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr6:26271200-26274600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
31	chr6:26271200-26274800	Active TSS	Right Ventricle	heart
32	chr6:26271200-26274800	Active TSS	HSMM	muscle
33	chr6:26271400-26274400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
34	chr6:26271400-26274600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr6:26271400-26274800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:26271400-26274800	Active TSS	Aorta	Aorta
37	chr6:26271400-26274800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr6:26271600-26274600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr6:26271600-26274800	Active TSS	Colonic Mucosa	Colon
40	chr6:26271600-26274800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:26271600-26274800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr6:26271800-26273800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:26272000-26274600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr6:26272000-26274600	Active TSS	Duodenum Mucosa	Duodenum
45	chr6:26272000-26274600	Active TSS	Thymus	Thymus
46	chr6:26272000-26274800	Active TSS	HSMMtube	muscle
47	chr6:26272400-26273600	Active TSS	Spleen	Spleen
48	chr6:26272400-26274400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:26272400-26274400	Active TSS	Fetal Heart	heart
50	chr6:26272400-26274400	Active TSS	Fetal Kidney	kidney

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