Variant report

Variant	rs6681627
Chromosome Location	chr1:174126742-174126743
allele	A/C
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	BCLAF1	chr1:174126127-174126788	GM12878	blood:	n/a	n/a
2	MEF2A	chr1:174126065-174126825	GM12878	blood:	n/a	n/a
3	SREBP1	chr1:174125904-174128766	GM12878	blood:	n/a	n/a
4	RELA	chr1:174126135-174129608	GM18505	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
5	POLR2A	chr1:174126096-174130044	GM12891	blood:	n/a	n/a
6	MTA3	chr1:174126129-174127057	GM12878	blood:	n/a	n/a
7	TAL1	chr1:174126590-174127013	K562	blood:	n/a	chr1:174126770-174126778
8	PML	chr1:174126086-174127172	GM12878	blood:	n/a	n/a
9	NFIC	chr1:174126078-174126917	GM12878	blood:	n/a	n/a
10	IRF4	chr1:174126114-174126790	GM12878	blood:	n/a	n/a
11	FOS	chr1:174126125-174126823	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXM1	chr1:174126170-174126889	GM12878	blood:	n/a	n/a
13	GATA1	chr1:174125584-174127288	PBDE	blood:	n/a	chr1:174126771-174126778 chr1:174125812-174125825 chr1:174126767-174126778 chr1:174126771-174126778 chr1:174126739-174126750 chr1:174126767-174126783 chr1:174126764-174126785 chr1:174126771-174126778
14	NFATC1	chr1:174126142-174126777	GM12878	blood:	n/a	n/a
15	STAT3	chr1:174126341-174126786	GM12878	blood:	n/a	n/a
16	JUND	chr1:174126220-174126806	GM12878	blood:	n/a	n/a
17	EBF1	chr1:174126244-174126800	GM12878	blood:	n/a	n/a
18	MTA3	chr1:174126026-174126996	GM12878	blood:	n/a	n/a
19	RUNX3	chr1:174125984-174127052	GM12878	blood:	n/a	n/a
20	MAZ	chr1:174126257-174126747	GM12878	blood:	n/a	chr1:174126719-174126728
21	NFIC	chr1:174126009-174126956	GM12878	blood:	n/a	n/a
22	TEAD4	chr1:174126451-174126985	K562	blood:	n/a	n/a
23	RUNX3	chr1:174125985-174126905	GM12878	blood:	n/a	n/a
24	SPI1	chr1:174126043-174126764	GM12878	blood:	n/a	n/a
25	MYC	chr1:174126591-174127006	K562	blood:	n/a	chr1:174126719-174126728
26	NFATC1	chr1:174126047-174126796	GM12878	blood:	n/a	n/a
27	TEAD4	chr1:174126225-174127016	K562	blood:	n/a	n/a
28	IRF1	chr1:174126428-174126881	K562	blood:	n/a	n/a
29	MYC	chr1:174126238-174126841	MCF10A-Er-Src	breast:	n/a	chr1:174126719-174126728
30	EP300	chr1:174126193-174126763	GM12878	blood:	n/a	n/a
31	POU2F2	chr1:174126170-174126802	GM12891	blood:	n/a	chr1:174126551-174126560 chr1:174126551-174126561 chr1:174126548-174126563 chr1:174126552-174126559 chr1:174126551-174126561 chr1:174126550-174126562
32	IKZF1	chr1:174126088-174126904	GM12878	blood:	n/a	n/a
33	RCOR1	chr1:174126212-174126883	GM12878	blood:	n/a	n/a
34	MYC	chr1:174126347-174127021	K562	blood:	n/a	chr1:174126719-174126728
35	BHLHE40	chr1:174126227-174126946	GM12878	blood:	n/a	n/a
36	PAX5	chr1:174126150-174126821	GM12878	blood:	n/a	n/a
37	EP300	chr1:174126235-174126750	GM12878	blood:	n/a	n/a
38	NR2F2	chr1:174126570-174127025	K562	blood:	n/a	n/a
39	RELA	chr1:174126183-174126834	GM19099	blood:	n/a	n/a
40	RCOR1	chr1:174126255-174126992	K562	blood:	n/a	n/a
41	FOS	chr1:174126028-174126769	MCF10A-Er-Src	breast:	n/a	n/a
42	ATF2	chr1:174126067-174126795	GM12878	blood:	n/a	n/a
43	IRF4	chr1:174126149-174126748	GM12878	blood:	n/a	n/a
44	FOXM1	chr1:174126131-174126848	GM12878	blood:	n/a	n/a
45	UBTF	chr1:174126562-174126891	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173990191..173994093-chr1:174126470..174130234,3	MCF-7	breast:
2	chr1:173991432..173994922-chr1:174124746..174129302,4	K562	blood:
3	chr1:174123084..174124650-chr1:174124854..174126776,2	MCF-7	breast:
4	chr1:173833092..173835036-chr1:174125065..174127338,2	K562	blood:

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000224977	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000135870	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10798301	0.83[TSI][hapmap]
rs72713506	0.83[AFR][1000 genomes]
rs72713516	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174120000-174128000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:174122200-174127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:174122400-174127400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:174122800-174127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:174122800-174127600	Weak transcription	A549	lung
6	chr1:174123000-174127400	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174123000-174127400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:174123200-174127200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:174123200-174127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:174123200-174127400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:174123200-174127800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:174123600-174127400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:174124600-174127400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:174125000-174126800	Enhancers	Hela-S3	cervix
15	chr1:174125000-174127400	Enhancers	K562	blood
16	chr1:174125000-174127600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:174125600-174127600	Enhancers	Fetal Heart	heart
18	chr1:174125600-174127600	Enhancers	HMEC	breast
19	chr1:174125600-174127800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:174125600-174127800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:174125800-174127600	Weak transcription	Right Atrium	heart
22	chr1:174126000-174127600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:174126000-174127600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:174126000-174127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:174126000-174127600	Enhancers	NHEK	skin
26	chr1:174126000-174127800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:174126200-174127600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:174126200-174127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:174126400-174126800	Active TSS	GM12878-XiMat	blood
30	chr1:174126400-174127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:174126400-174127600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:174126400-174127600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:174126400-174127600	Weak transcription	Right Ventricle	heart
34	chr1:174126400-174127800	Enhancers	Primary B cells from cord blood	blood
35	chr1:174126600-174126800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:174126600-174127600	Enhancers	Pancreatic Islets	Pancreatic Islet

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