Variant report

Variant	rs61897372
Chromosome Location	chr11:75151373-75151374
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	CTCF	chr11:75151280-75151430	K562	blood:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
2	CTCF	chr11:75151344-75151395	MCF-7	breast:	n/a	chr11:75151344-75151357
3	CTCF	chr11:75151263-75151445	Medullo	brain:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
4	CTCF	chr11:75151240-75151390	HUVEC	blood vessel:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
5	CTCF	chr11:75151320-75151470	BE2_C	brain:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
6	CTCF	chr11:75151331-75151381	MCF-7	breast:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
7	CTCF	chr11:75151307-75151420	K562	blood:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
8	CTCF	chr11:75151280-75151430	WERI-Rb-1	eye:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
9	RAD21	chr11:75151207-75151493	H1-hESC	embryonic stem cell:	n/a	chr11:75151343-75151356
10	RAD21	chr11:75151318-75151405	K562	blood:	n/a	chr11:75151343-75151356
11	RAD21	chr11:75151144-75151492	H1-hESC	embryonic stem cell:	n/a	chr11:75151343-75151356
12	RAD21	chr11:75151148-75151502	SK-N-SH_RA	brain:	n/a	chr11:75151343-75151356
13	CTCF	chr11:75151260-75151410	WERI-Rb-1	eye:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
14	CTCF	chr11:75151336-75151388	MCF-7	breast:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
15	RAD21	chr11:75151201-75151466	H1-hESC	embryonic stem cell:	n/a	chr11:75151343-75151356
16	RAD21	chr11:75151266-75151393	SK-N-SH_RA	brain:	n/a	chr11:75151343-75151356
17	CTCF	chr11:75151260-75151410	AG09319	gingival:	n/a	chr11:75151344-75151357 chr11:75151342-75151360
18	POLR2A	chr11:75151320-75151397	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr11:75151321-75151431	Hela-S3	cervix:	n/a	chr11:75151344-75151358
20	CTCF	chr11:75151240-75151390	A549	lung:	n/a	chr11:75151344-75151357 chr11:75151342-75151360

No.	Distal block	Cell Line	Cell type
1	chr11:75109252..75112429-chr11:75150436..75153898,3	MCF-7	breast:
2	chr11:75098408..75100010-chr11:75150323..75152264,2	MCF-7	breast:
3	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
4	chr11:75110249..75112760-chr11:75150071..75152218,2	K562	blood:
5	chr11:75148115..75151713-chr11:75153715..75157697,3	MCF-7	breast:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2187568	0.85[EUR][1000 genomes]
rs2276443	0.89[EUR][1000 genomes]
rs55955041	0.85[EUR][1000 genomes]
rs56010007	0.89[EUR][1000 genomes]
rs56207324	0.89[EUR][1000 genomes]
rs56386896	0.85[EUR][1000 genomes]
rs56412430	0.85[EUR][1000 genomes]
rs61897374	0.89[EUR][1000 genomes]
rs61897376	0.93[EUR][1000 genomes]
rs61897380	0.89[EUR][1000 genomes]
rs61897406	0.88[EUR][1000 genomes]
rs61897410	0.85[EUR][1000 genomes]
rs61897411	0.85[EUR][1000 genomes]
rs61897413	0.82[EUR][1000 genomes]
rs61897414	0.85[EUR][1000 genomes]
rs61897415	0.85[EUR][1000 genomes]
rs61897416	0.82[EUR][1000 genomes]
rs7125082	0.82[EUR][1000 genomes]
rs7128197	0.88[EUR][1000 genomes]
rs7131225	0.88[EUR][1000 genomes]
rs73494872	0.82[EUR][1000 genomes]

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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75152200	Weak transcription	Right Ventricle	heart
3	chr11:75142000-75165200	Weak transcription	Ovary	ovary
4	chr11:75142600-75156600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:75144200-75152200	Weak transcription	Esophagus	oesophagus
6	chr11:75144200-75164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:75144200-75186600	Weak transcription	Gastric	stomach
9	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:75144600-75152400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:75144600-75155800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:75144600-75174000	Weak transcription	Liver	Liver
13	chr11:75144800-75156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:75145000-75156000	Strong transcription	Spleen	Spleen
15	chr11:75145000-75162400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
17	chr11:75145200-75152000	Weak transcription	Thymus	Thymus
18	chr11:75145200-75165200	Weak transcription	A549	lung
19	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
20	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
21	chr11:75145400-75156200	Strong transcription	Fetal Intestine Large	intestine
22	chr11:75145600-75155400	Strong transcription	Adipose Nuclei	Adipose
23	chr11:75146000-75152600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:75146400-75163200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:75148000-75163800	Weak transcription	Lung	lung
28	chr11:75148200-75151800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:75148600-75151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:75149000-75152600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:75149400-75155600	Strong transcription	HSMMtube	muscle
33	chr11:75149600-75151400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:75149600-75151600	Weak transcription	HepG2	liver
35	chr11:75149600-75152200	Weak transcription	HMEC	breast
36	chr11:75149800-75151400	Strong transcription	Fetal Brain Female	brain
37	chr11:75149800-75152000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:75149800-75152800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:75150000-75151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:75150200-75151600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:75150400-75153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:75150800-75152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:75150800-75152800	Strong transcription	Pancreas	Pancrea
45	chr11:75150800-75156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:75151200-75151400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:75151200-75151600	Enhancers	HUES48 Cell Line	embryonic stem cell

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