Variant report

Variant	rs11072641
Chromosome Location	chr15:77363451-77363452
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	SIN3AK20	chr15:77363311-77363553	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:77362566-77363799	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr15:77363129-77363675	HEK293	kidney:	n/a	n/a
4	POLR2A	chr15:77362661-77363665	GM12892	blood:	n/a	n/a
5	ZBTB7A	chr15:77363235-77363540	HepG2	liver:	n/a	n/a
6	REST	chr15:77363225-77363565	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:77363214-77363666	GM12891	blood:	n/a	n/a
8	SP1	chr15:77363446-77363796	GM12878	blood:	n/a	chr15:77363517-77363526 chr15:77363516-77363527
9	E2F4	chr15:77363341-77363778	MCF10A-Er-Src	breast:	n/a	chr15:77363543-77363552 chr15:77363605-77363612 chr15:77363467-77363477
10	JUND	chr15:77363343-77363659	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr15:77363377-77363652	HepG2	liver:	n/a	chr15:77363605-77363612
12	POU2F2	chr15:77363248-77363490	GM12878	blood:	n/a	chr15:77363435-77363447
13	POLR2A	chr15:77362812-77363834	Raji	blood:	n/a	n/a
14	MAZ	chr15:77362078-77364243	IMR90	lung:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
15	POLR2A	chr15:77361656-77363688	MCF10A-Er-Src	breast:	n/a	n/a
16	NRF1	chr15:77363257-77363668	GM12878	blood:	n/a	chr15:77363463-77363474 chr15:77363414-77363425
17	TBP	chr15:77363239-77363637	HepG2	liver:	n/a	chr15:77363583-77363594
18	POLR2A	chr15:77363194-77363658	GM10847	blood:	n/a	n/a
19	POLR2A	chr15:77362725-77363678	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:77363174-77363622	K562	blood:	n/a	n/a
21	MAX	chr15:77362768-77363668	K562	blood:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
22	TAF1	chr15:77363058-77363792	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr15:77363440-77363854	GM12878	blood:	n/a	chr15:77363646-77363656 chr15:77363645-77363658 chr15:77363645-77363656 chr15:77363647-77363656 chr15:77363647-77363657
24	E2F6	chr15:77363190-77363793	A549	lung:	n/a	chr15:77363543-77363552 chr15:77363605-77363612 chr15:77363467-77363477
25	POLR2A	chr15:77362663-77363727	GM18505	blood:	n/a	n/a
26	HEY1	chr15:77363153-77363627	K562	blood:	n/a	chr15:77363398-77363413
27	POLR2A	chr15:77363136-77363686	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr15:77363143-77363605	GM12892	blood:	n/a	n/a
29	MAX	chr15:77363246-77363756	H1-hESC	embryonic stem cell:	n/a	chr15:77363522-77363531
30	POLR2A	chr15:77363136-77363737	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:77363168-77363623	HepG2	liver:	n/a	n/a
32	MAZ	chr15:77362701-77363768	GM12878	blood:	n/a	chr15:77363522-77363531 chr15:77362963-77362972
33	SP1	chr15:77363239-77363801	GM12878	blood:	n/a	chr15:77363517-77363526 chr15:77363516-77363527
34	POLR2A	chr15:77363167-77363633	GM12878	blood:	n/a	n/a
35	TBP	chr15:77363320-77363840	Hela-S3	cervix:	n/a	chr15:77363583-77363594
36	TAF1	chr15:77363209-77363630	PFSK-1	brain:	n/a	n/a
37	REST	chr15:77363230-77363497	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr15:77361797-77363764	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr15:77363048-77363721	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:77363146-77363614	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF2	chr15:77363427-77363681	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr15:77363159-77363624	SK-N-SH	brain:	n/a	n/a
43	GTF2B	chr15:77363294-77363598	K562	blood:	n/a	chr15:77363583-77363594
44	POLR2A	chr15:77362641-77363687	K562	blood:	n/a	n/a
45	FOXP2	chr15:77362706-77363690	PFSK-1	brain:	n/a	n/a
46	TAF1	chr15:77363184-77363578	H1-neurons	neurons:	n/a	n/a
47	NFYB	chr15:77363358-77363761	GM12878	blood:	n/a	chr15:77363541-77363556 chr15:77363538-77363553 chr15:77363540-77363552 chr15:77363541-77363556
48	RUNX3	chr15:77363179-77363804	GM12878	blood:	n/a	n/a
49	MAX	chr15:77363304-77363801	SK-N-SH	brain:	n/a	chr15:77363522-77363531
50	YY1	chr15:77363144-77363522	HepG2	liver:	n/a	chr15:77363362-77363371 chr15:77363463-77363474 chr15:77363362-77363376 chr15:77363399-77363413 chr15:77363357-77363367 chr15:77363408-77363419

No.	Distal block	Cell Line	Cell type
1	chr15:77195708..77198409-chr15:77360659..77363583,2	K562	blood:
2	chr15:77362899..77363478-chr4:88141336..88142074,2	NB4	blood:
3	chr15:77334559..77338244-chr15:77361377..77364599,4	K562	blood:
4	chr15:77362106..77364633-chr15:77375983..77377903,3	MCF-7	breast:
5	chr15:76602919..76604847-chr15:77361875..77364736,2	K562	blood:
6	chr12:122240911..122241575-chr15:77363083..77363808,2	NB4	blood:
7	chr15:77196909..77199186-chr15:77360659..77363469,2	K562	blood:
8	chr15:77320639..77324428-chr15:77362244..77364696,3	K562	blood:
9	chr15:77357220..77360797-chr15:77361367..77364060,6	MCF-7	breast:
10	chr15:77359065..77361270-chr15:77362713..77364449,3	K562	blood:
11	chr15:77334649..77338471-chr15:77361377..77364899,5	K562	blood:

Variant related genes	Relation type
TSPAN3	TF binding region
ENSG00000269951	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000140386	Chromatin interaction
ENSG00000260787	Chromatin interaction
ENSG00000140391	Chromatin interaction
ENSG00000140368	Chromatin interaction
ENSG00000259652	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000269951	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11630497	0.85[AMR][1000 genomes]
rs11636613	0.85[AMR][1000 genomes]
rs11737	0.88[AMR][1000 genomes]
rs12901188	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34443712	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4886509	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7169831	0.82[EUR][1000 genomes]
rs8032	0.85[AMR][1000 genomes]
rs938501	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS 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	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
10	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
11	esv3423899	chr15:77362122-77364670	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11072641	RP11-797A18.4	cis	Muscle Skeletal	GTEx
rs11072641	RP11-797A18.4	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77361400-77363600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:77361600-77363600	Active TSS	Fetal Intestine Large	intestine
3	chr15:77361600-77363800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr15:77361800-77363600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:77361800-77363600	Active TSS	Ovary	ovary
6	chr15:77361800-77363600	Active TSS	Pancreas	Pancrea
7	chr15:77361800-77363600	Active TSS	NHDF-Ad	bronchial
8	chr15:77362000-77363600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:77362000-77363600	Active TSS	Lung	lung
10	chr15:77362200-77363600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:77362200-77363600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr15:77362200-77363600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:77362200-77363600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:77362200-77363600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:77362200-77363600	Active TSS	Brain Germinal Matrix	brain
16	chr15:77362200-77363600	Active TSS	Gastric	stomach
17	chr15:77362200-77363600	Active TSS	Left Ventricle	heart
18	chr15:77362200-77363600	Active TSS	Stomach Smooth Muscle	stomach
19	chr15:77362200-77363600	Active TSS	NHLF	lung
20	chr15:77362400-77363600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr15:77362400-77363600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:77362400-77363600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:77362400-77363600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:77362400-77363600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr15:77362400-77363600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:77362400-77363600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:77362400-77363600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr15:77362400-77363600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr15:77362400-77363600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:77362400-77363600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:77362400-77363600	Active TSS	Aorta	Aorta
32	chr15:77362400-77363600	Active TSS	Brain Angular Gyrus	brain
33	chr15:77362400-77363600	Active TSS	Brain Hippocampus Middle	brain
34	chr15:77362400-77363600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:77362400-77363600	Active TSS	Psoas Muscle	Psoas
36	chr15:77362400-77363600	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr15:77362400-77363600	Active TSS	Right Ventricle	heart
38	chr15:77362400-77363600	Active TSS	Spleen	Spleen
39	chr15:77362400-77363600	Active TSS	A549	lung
40	chr15:77362400-77363600	Active TSS	Dnd41	blood
41	chr15:77362400-77363600	Active TSS	HSMM	muscle
42	chr15:77362400-77363600	Active TSS	HSMMtube	muscle
43	chr15:77362400-77363800	Active TSS	Fetal Brain Female	brain
44	chr15:77362400-77364000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:77362400-77364000	Active TSS	Colonic Mucosa	Colon
46	chr15:77362400-77364000	Active TSS	Fetal Kidney	kidney
47	chr15:77362600-77363600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr15:77362600-77363600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:77362600-77363600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:77362600-77363600	Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links