Variant report

Variant	rs118038962
Chromosome Location	chr7:6142546-6142547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6142413-6142791	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:6142496-6142556	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:6142253-6143715	GM12891	blood:	n/a	n/a
4	FOXA2	chr7:6142449-6142760	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:6142065-6143021	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:6141951-6142957	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:6142495-6142953	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:6142181-6143703	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr7:6142086-6143833	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:6142168-6142999	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:6142406-6142938	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:6142195-6142844	K562	blood:	n/a	n/a
13	POLR2A	chr7:6142236-6142749	PFSK-1	brain:	n/a	n/a
14	CEBPZ	chr7:6142437-6142902	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:6142308-6142856	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:6142353-6143249	Raji	blood:	n/a	n/a
17	MAFF	chr7:6142414-6142776	HepG2	liver:	n/a	chr7:6142568-6142586
18	POLR2A	chr7:6142465-6142926	HUVEC	blood vessel:	n/a	n/a
19	SMC3	chr7:6142330-6142817	HepG2	liver:	n/a	n/a
20	MAFK	chr7:6142438-6142776	HepG2	liver:	n/a	chr7:6142570-6142585
21	POLR2A	chr7:6142449-6142984	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:6142496-6142889	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:6141815-6143035	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr7:6142277-6142765	ECC-1	luminal epithelium:	n/a	n/a
25	USF2	chr7:6142546-6142745	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:6141885-6144613	SK-N-MC	brain:	n/a	n/a
27	HEY1	chr7:6142483-6142976	HepG2	liver:	n/a	n/a
28	HEY1	chr7:6142234-6142920	HepG2	liver:	n/a	n/a
29	BRCA1	chr7:6142378-6142578	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:6142071-6143372	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr7:6142013-6143811	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr7:6142538-6142784	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr7:6142496-6144764	IMR90	lung:	n/a	n/a
34	TBL1XR1	chr7:6142470-6142651	K562	blood:	n/a	n/a
35	POLR2A	chr7:6141526-6144821	HepG2	liver:	n/a	n/a
36	HEY1	chr7:6142436-6142785	K562	blood:	n/a	n/a
37	FOXA1	chr7:6142402-6142869	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:6142474-6142895	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:6142180-6142928	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:6142216-6143013	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:6142295-6142745	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:6142131-6142847	K562	blood:	n/a	n/a
43	MAFK	chr7:6142455-6142711	HepG2	liver:	n/a	chr7:6142570-6142585
44	POLR2A	chr7:6142423-6142955	K562	blood:	n/a	n/a
45	POLR2A	chr7:6141995-6142902	K562	blood:	n/a	n/a
46	POLR2A	chr7:6142147-6142894	Hela-S3	cervix:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
2	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
3	chr7:6140101..6142777-chr7:6142839..6145208,2	MCF-7	breast:
4	chr7:6084295..6085840-chr7:6140826..6143593,2	K562	blood:
5	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
6	chr7:6100114..6101811-chr7:6141887..6144361,2	K562	blood:
7	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
8	chr7:6110355..6112451-chr7:6141705..6143583,2	K562	blood:
9	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
10	chr7:6065831..6068709-chr7:6141820..6144838,4	MCF-7	breast:
11	chr7:6129689..6132230-chr7:6141187..6143186,2	K562	blood:
12	chr7:6062330..6064601-chr7:6141391..6143688,2	MCF-7	breast:
13	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
14	chr7:6127500..6130529-chr7:6140681..6143799,3	MCF-7	breast:
15	chr7:6140966..6142574-chr7:6434049..6436038,2	K562	blood:
16	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
17	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:

No data

Variant related genes	Relation type
USP42	TF binding region
ENSG00000086232	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000231704	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' 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 target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv5628	chr7:6105462-6147148	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	esv13824	chr7:6123263-6144717	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	esv3419592	chr7:6142526-6147024	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6138800-6143400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:6139000-6143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:6139200-6143200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:6139200-6144000	Weak transcription	Spleen	Spleen
5	chr7:6139800-6142800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:6139800-6143400	Weak transcription	Right Ventricle	heart
7	chr7:6141000-6143400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:6141200-6143000	Weak transcription	Liver	Liver
9	chr7:6141200-6143200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6141200-6143400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:6141400-6142600	Weak transcription	K562	blood
12	chr7:6141600-6143200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:6141600-6143200	Weak transcription	Fetal Heart	heart
14	chr7:6142000-6143000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:6142200-6143000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:6142200-6143400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:6142400-6142600	Enhancers	Hela-S3	cervix
18	chr7:6142400-6143200	Enhancers	HepG2	liver
19	chr7:6142400-6143400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:6142400-6143400	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links