Variant report

Variant	rs7933634
Chromosome Location	chr11:9780956-9780957
allele	C/T
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	ZNF263	chr11:9779477-9781742	HEK293-T-REx	kidney:	n/a	chr11:9779613-9779622
2	POLR2A	chr11:9780862-9781121	ECC-1	luminal epithelium:	n/a	n/a
3	PBX3	chr11:9780881-9781622	A549	lung:	n/a	n/a
4	FOSL2	chr11:9780287-9781925	A549	lung:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781501-9781511 chr11:9781415-9781426 chr11:9781418-9781429
5	SMARCC1	chr11:9779463-9781816	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
6	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
7	SP1	chr11:9779303-9781766	A549	lung:	n/a	chr11:9781334-9781343 chr11:9779714-9779728 chr11:9779718-9779727 chr11:9779717-9779729 chr11:9781333-9781343 chr11:9779719-9779728 chr11:9781333-9781347 chr11:9779717-9779729 chr11:9779779-9779791 chr11:9780405-9780414
8	CTCF	chr11:9779354-9782085	SK-N-SH	brain:	n/a	chr11:9779809-9779830 chr11:9779810-9779823 chr11:9779744-9779757 chr11:9781171-9781184 chr11:9779807-9779825 chr11:9780473-9780486 chr11:9780203-9780216
9	TCF12	chr11:9780014-9781926	ECC-1	luminal epithelium:	n/a	chr11:9781281-9781288
10	POLR2A	chr11:9778827-9782252	U87	brain:	n/a	n/a
11	SMARCB1	chr11:9779473-9781613	Hela-S3	cervix:	n/a	chr11:9781502-9781511 chr11:9781316-9781325
12	JUND	chr11:9779222-9782364	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9779717-9779726 chr11:9781415-9781426
13	HEY1	chr11:9779369-9781454	HepG2	liver:	n/a	chr11:9780422-9780437 chr11:9781444-9781453
14	POLR2A	chr11:9779440-9781470	K562	blood:	n/a	n/a
15	BCL3	chr11:9780791-9781753	A549	lung:	n/a	chr11:9781418-9781427
16	RXRA	chr11:9780946-9782130	SK-N-SH	brain:	n/a	chr11:9782064-9782086
17	ETS1	chr11:9780793-9781499	A549	lung:	n/a	n/a
18	EP300	chr11:9780020-9781766	A549	lung:	n/a	chr11:9780189-9780205 chr11:9781418-9781427 chr11:9781501-9781510 chr11:9780812-9780821
19	MAX	chr11:9780912-9781662	A549	lung:	n/a	chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
20	TBP	chr11:9780918-9781143	HepG2	liver:	n/a	n/a
21	FOSL1	chr11:9780853-9781930	HCT-116	colon:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781417-9781428 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781501-9781511 chr11:9781415-9781426
22	RCOR1	chr11:9779374-9782715	IMR90	lung:	n/a	n/a
23	REST	chr11:9780901-9781589	PANC-1	pancreas:	n/a	n/a
24	ELF1	chr11:9779396-9781068	GM12878	blood:	n/a	chr11:9780521-9780533
25	RAD21	chr11:9779401-9781606	A549	lung:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536
26	CHD2	chr11:9779494-9781622	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:9779394-9781513	GM19099	blood:	n/a	n/a
28	TCF7L2	chr11:9780270-9781663	HCT-116	colon:	n/a	chr11:9781502-9781511
29	MXI1	chr11:9779263-9782690	IMR90	lung:	n/a	n/a
30	TFAP2C	chr11:9779435-9781682	Hela-S3	cervix:	n/a	n/a
31	MAX	chr11:9779083-9782036	A549	lung:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
32	POLR2A	chr11:9779384-9781568	Raji	blood:	n/a	n/a
33	SIX5	chr11:9780243-9781155	A549	lung:	n/a	n/a
34	RAD21	chr11:9779434-9781789	HCT-116	colon:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536 chr11:9781753-9781766
35	FOXA2	chr11:9780881-9781705	A549	lung:	n/a	n/a
36	EP300	chr11:9779464-9782182	SK-N-SH	brain:	n/a	chr11:9780189-9780205 chr11:9779762-9779778 chr11:9781418-9781427 chr11:9781501-9781510 chr11:9780812-9780821
37	JUND	chr11:9780893-9782169	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9781415-9781426
38	ATF3	chr11:9780839-9781519	A549	lung:	n/a	n/a
39	POLR2A	chr11:9779268-9781715	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:9780902-9781191	A549	lung:	n/a	n/a
41	POLR2A	chr11:9779255-9782252	U87	brain:	n/a	n/a
42	EP300	chr11:9780852-9781806	A549	lung:	n/a	chr11:9781418-9781427 chr11:9781501-9781510
43	POLR2A	chr11:9779415-9781620	HCT-116	colon:	n/a	n/a
44	POLR2A	chr11:9779439-9781603	HCT-116	colon:	n/a	n/a
45	MAX	chr11:9779097-9781722	NB4	blood:	n/a	chr11:9780798-9780808 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
46	POLR2A	chr11:9780911-9781890	HUVEC	blood vessel:	n/a	n/a
47	GATA3	chr11:9780952-9782218	SK-N-SH	brain:	n/a	chr11:9781500-9781509
48	CTCF	chr11:9778273-9781596	A549	lung:	n/a	chr11:9779809-9779830 chr11:9779810-9779823 chr11:9779744-9779757 chr11:9781171-9781184 chr11:9778576-9778589 chr11:9779807-9779825 chr11:9780473-9780486 chr11:9780203-9780216
49	POLR2A	chr11:9779492-9781600	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:9780938-9781185	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9481460..9483596-chr11:9780067..9782132,2	K562	blood:
2	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
3	chr11:9481642..9483596-chr11:9779160..9782132,2	K562	blood:

Variant related genes	Relation type
ENSG00000245522	TF binding region
ENSG00000133805	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58468060	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS 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	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9779200-9781000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:9779200-9781400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:9779200-9781400	Active TSS	Fetal Kidney	kidney
4	chr11:9779400-9781000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:9779400-9781000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:9779400-9781000	Enhancers	Fetal Brain Male	brain
7	chr11:9779400-9781000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:9779400-9781000	Flanking Active TSS	NH-A	brain
9	chr11:9779400-9781000	Flanking Active TSS	NHLF	lung
10	chr11:9779400-9781200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:9779400-9781200	Flanking Active TSS	Dnd41	blood
12	chr11:9779400-9781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:9779400-9781600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:9779400-9781800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:9779400-9781800	Flanking Active TSS	Osteobl	bone
16	chr11:9779400-9782200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:9779600-9781000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:9779600-9781000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:9779600-9781000	Active TSS	Brain Germinal Matrix	brain
20	chr11:9780000-9781000	Bivalent/Poised TSS	HepG2	liver
21	chr11:9780000-9781200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:9780200-9782200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:9780200-9786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:9780400-9781000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr11:9780400-9781000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:9780400-9781000	Weak transcription	Aorta	Aorta
27	chr11:9780400-9781000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr11:9780400-9781000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:9780400-9781000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr11:9780400-9781000	Enhancers	Gastric	stomach
31	chr11:9780400-9781000	Flanking Active TSS	HSMM	muscle
32	chr11:9780400-9781200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:9780400-9781200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:9780400-9781200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:9780400-9781200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:9780400-9781200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:9780400-9781200	Flanking Active TSS	Esophagus	oesophagus
38	chr11:9780400-9781200	Flanking Active TSS	Placenta	Placenta
39	chr11:9780400-9781200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr11:9780400-9781200	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:9780400-9781200	Flanking Active TSS	NHEK	skin
42	chr11:9780400-9781400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:9780400-9781400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:9780400-9781400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr11:9780400-9781600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:9780400-9781600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr11:9780400-9781600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:9780400-9781600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:9780400-9781600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:9780400-9781800	Flanking Active TSS	Hela-S3	cervix

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