Variant report

Variant	rs537195841
Chromosome Location	chr11:9594184-9594185
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	FOXA1	chr11:9594088-9595260	HepG2	liver:	n/a	n/a
2	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
3	USF1	chr11:9594134-9594563	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFIC	chr11:9594172-9595518	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
6	NFIC	chr11:9594166-9595416	ECC-1	luminal epithelium:	n/a	n/a
7	USF1	chr11:9594171-9594520	A549	lung:	n/a	n/a
8	NR2F2	chr11:9594123-9595362	K562	blood:	n/a	n/a
9	POLR2A	chr11:9594122-9595677	U87	brain:	n/a	n/a
10	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
11	SIN3AK20	chr11:9593713-9597257	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:9594027-9595660	K562	blood:	n/a	n/a
13	MAX	chr11:9594143-9595653	MCF-7	breast:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
14	MAX	chr11:9594131-9595862	HCT-116	colon:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
15	BHLHE40	chr11:9594155-9595523	HepG2	liver:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
16	MAX	chr11:9594109-9595347	MCF-7	breast:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9594394-9594403 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407
17	USF1	chr11:9594135-9594690	A549	lung:	n/a	n/a
18	CHD1	chr11:9594023-9600398	IMR90	lung:	n/a	chr11:9596149-9596159
19	POLR2A	chr11:9593721-9599676	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr11:9594100-9595655	SK-N-SH	brain:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
21	SIN3AK20	chr11:9594099-9595589	MCF-7	breast:	n/a	n/a
22	HEY1	chr11:9594133-9595478	HepG2	liver:	n/a	chr11:9595294-9595309 chr11:9595297-9595312 chr11:9595341-9595356 chr11:9594830-9594845
23	PML	chr11:9594177-9595312	K562	blood:	n/a	n/a
24	POLR2A	chr11:9594164-9594186	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:9592789-9600461	MCF10A-Er-Src	breast:	n/a	n/a
26	USF1	chr11:9594175-9594589	A549	lung:	n/a	n/a
27	USF1	chr11:9594144-9595665	ECC-1	luminal epithelium:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
28	HCFC1	chr11:9594040-9598791	Hela-S3	cervix:	n/a	n/a
29	MAX	chr11:9594095-9595703	HepG2	liver:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
30	FOXA2	chr11:9594089-9595151	A549	lung:	n/a	n/a
31	POLR2A	chr11:9593229-9595672	PANC-1	pancreas:	n/a	n/a
32	USF1	chr11:9594138-9594603	A549	lung:	n/a	n/a
33	POLR2A	chr11:9594182-9595540	U87	brain:	n/a	n/a
34	MTA3	chr11:9594123-9594975	GM12878	blood:	n/a	n/a
35	FOXA2	chr11:9594109-9595012	A549	lung:	n/a	n/a
36	POLR2A	chr11:9593649-9597149	K562	blood:	n/a	n/a
37	POLR2A	chr11:9594133-9595911	Hela-S3	cervix:	n/a	n/a
38	FOXA1	chr11:9594097-9594699	HepG2	liver:	n/a	n/a
39	USF1	chr11:9594119-9594670	A549	lung:	n/a	n/a
40	MXI1	chr11:9594119-9597242	IMR90	lung:	n/a	n/a
41	POLR2A	chr11:9594176-9595794	HUVEC	blood vessel:	n/a	n/a
42	SP1	chr11:9594140-9595457	A549	lung:	n/a	chr11:9595401-9595413 chr11:9594708-9594718 chr11:9595401-9595413 chr11:9595067-9595079 chr11:9594708-9594718 chr11:9595271-9595280 chr11:9595402-9595412 chr11:9595402-9595411 chr11:9595270-9595282
43	USF1	chr11:9594122-9595518	SK-N-SH	brain:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
44	TCF12	chr11:9594015-9595456	A549	lung:	n/a	n/a
45	POLR2A	chr11:9594128-9595672	U87	brain:	n/a	n/a
46	GATA3	chr11:9594013-9595569	A549	lung:	n/a	n/a
47	POLR2A	chr11:9593209-9597897	PANC-1	pancreas:	n/a	n/a
48	BCL3	chr11:9594145-9595350	A549	lung:	n/a	chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847
49	MYC	chr11:9594066-9595814	A549	lung:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
50	TEAD4	chr11:9594153-9595617	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
2	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
3	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
4	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
5	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
6	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
7	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
8	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000175356	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3365334	chr11:9593876-9597474	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3439005	chr11:9593901-9596949	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
2	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
3	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
4	chr11:9585200-9594400	Weak transcription	Lung	lung
5	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
6	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
7	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:9588000-9594400	Weak transcription	Gastric	stomach
9	chr11:9589600-9594200	Enhancers	Primary B cells from cord blood	blood
10	chr11:9589800-9594200	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:9590000-9594200	Weak transcription	Fetal Brain Male	brain
12	chr11:9590000-9594200	Weak transcription	Ovary	ovary
13	chr11:9590600-9594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9590600-9594200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:9591000-9594200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:9591000-9594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9591200-9594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:9591200-9594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:9591200-9594400	Weak transcription	Pancreas	Pancrea
20	chr11:9591400-9594200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:9591400-9594200	Weak transcription	Colonic Mucosa	Colon
22	chr11:9591400-9594200	Weak transcription	Right Ventricle	heart
23	chr11:9591600-9594200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:9591600-9594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:9591600-9594200	Weak transcription	Primary T cells from cord blood	blood
26	chr11:9591600-9594200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:9591600-9594200	Weak transcription	Aorta	Aorta
28	chr11:9591600-9594200	Weak transcription	Left Ventricle	heart
29	chr11:9591600-9594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:9591600-9594600	Weak transcription	Small Intestine	intestine
31	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
32	chr11:9591800-9594200	Weak transcription	Right Atrium	heart
33	chr11:9592000-9594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:9592200-9594200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:9592200-9594400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:9592400-9594200	Weak transcription	Liver	Liver
37	chr11:9592600-9594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:9592800-9594200	Enhancers	Fetal Stomach	stomach
39	chr11:9592800-9594200	Weak transcription	HMEC	breast
40	chr11:9593000-9594200	Enhancers	NHLF	lung
41	chr11:9593200-9594200	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:9593400-9594200	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:9593400-9594200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:9593400-9594200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:9593600-9594200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:9593600-9594200	Weak transcription	Fetal Kidney	kidney
47	chr11:9593600-9594200	Enhancers	NHDF-Ad	bronchial
48	chr11:9593600-9595800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:9593600-9596200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:9593600-9596600	Active TSS	HUES64 Cell Line	embryonic stem cell

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