Variant report

Variant	rs147954910
Chromosome Location	chr6:34708450-34708451
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	RAD21	chr6:34708182-34708563	Hela-S3	cervix:	n/a	n/a
2	FOS	chr6:34708191-34708502	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:34707669-34708535	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:34707707-34708577	MCF10A-Er-Src	breast:	n/a	n/a
5	BHLHE40	chr6:34708114-34708531	K562	blood:	n/a	n/a
6	SMC3	chr6:34708172-34708494	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:34708157-34708498	HepG2	liver:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
8	ZNF384	chr6:34708210-34708785	K562	blood:	n/a	n/a
9	TCF7L2	chr6:34708182-34708515	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr6:34708167-34708601	Hela-S3	cervix:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
11	CEBPB	chr6:34708280-34708505	H1-hESC	embryonic stem cell:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
12	USF1	chr6:34708142-34708514	K562	blood:	n/a	n/a
13	MAX	chr6:34708174-34708510	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr6:34708237-34708552	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr6:34708215-34708525	MCF10A-Er-Src	breast:	n/a	chr6:34708380-34708388
16	CEBPB	chr6:34708280-34708510	IMR90	lung:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
17	USF2	chr6:34708137-34708476	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr6:34708225-34708526	A549	lung:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
19	STAT3	chr6:34708245-34708486	MCF10A-Er-Src	breast:	n/a	chr6:34708380-34708388
20	CEBPB	chr6:34708243-34708469	K562	blood:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
21	CEBPB	chr6:34708108-34708643	K562	blood:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
22	CEBPB	chr6:34708209-34708551	MCF-7	breast:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
23	MYC	chr6:34708245-34708487	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPB	chr6:34708193-34708564	HepG2	liver:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
25	RCOR1	chr6:34708229-34708499	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:34708271-34708534	Hela-S3	cervix:	n/a	n/a
27	FOS	chr6:34708187-34708565	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPB	chr6:34708222-34708519	HepG2	liver:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
29	CEBPB	chr6:34708197-34708579	HepG2	liver:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
30	MYC	chr6:34708199-34708502	MCF10A-Er-Src	breast:	n/a	n/a
31	CEBPB	chr6:34708196-34708577	K562	blood:	n/a	chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708380-34708389 chr6:34708378-34708389 chr6:34708380-34708391 chr6:34708380-34708389
32	GTF2F1	chr6:34708248-34708486	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr6:34708216-34708539	MCF10A-Er-Src	breast:	n/a	chr6:34708380-34708388
34	HDAC2	chr6:34708187-34708593	HepG2	liver:	n/a	n/a
35	BRCA1	chr6:34708223-34708553	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr6:34708088-34708566	MCF10A-Er-Src	breast:	n/a	chr6:34708380-34708388

No.	Distal block	Cell Line	Cell type
1	chr6:34707078..34708583-chr6:34711882..34714603,2	MCF-7	breast:
2	chr6:34665132..34667717-chr6:34706629..34708944,2	MCF-7	breast:
3	chr6:34706864..34709056-chr6:34722827..34726268,3	K562	blood:
4	chr6:34706320..34708599-chr6:34713149..34715491,2	K562	blood:
5	chr6:34707099..34709785-chr6:34713149..34715872,2	K562	blood:
6	chr6:34708225..34709906-chr6:34758782..34761089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217130	TF binding region
ENSG00000217130	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	24 gene(s)	inside rSNPs	diseases
9	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS 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 target site	33 gene(s)	inside rSNPs	diseases
10	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
11	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv965713	chr6:34708188-34713851	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
2	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach
3	chr6:34706400-34712800	Enhancers	HepG2	liver
4	chr6:34707000-34708600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:34707000-34709000	Enhancers	Fetal Intestine Large	intestine
6	chr6:34707000-34709000	Enhancers	K562	blood
7	chr6:34707400-34708600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:34707400-34709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:34707600-34708600	Enhancers	Fetal Intestine Small	intestine
10	chr6:34707600-34709000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:34707600-34709000	Enhancers	NHEK	skin
12	chr6:34707800-34708800	Weak transcription	Small Intestine	intestine
13	chr6:34708200-34708600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:34708200-34708600	Enhancers	Liver	Liver
15	chr6:34708200-34708600	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:34708200-34708600	Flanking Active TSS	Hela-S3	cervix
17	chr6:34708400-34708600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr6:34708400-34712800	Weak transcription	A549	lung

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