Variant report

Variant	rs575375
Chromosome Location	chr11:64535357-64535358
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	SMC3	chr11:64535233-64535530	Hela-S3	cervix:	n/a	chr11:64535352-64535366
2	CTCF	chr11:64535226-64535490	H1-hESC	embryonic stem cell:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
3	POLR2A	chr11:64534426-64538727	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:64535296-64535654	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:64535320-64535470	GM12801	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
6	CTCF	chr11:64535280-64535430	HBMEC	blood vessel:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
7	STAT5A	chr11:64534992-64535499	GM12878	blood:	n/a	n/a
8	CTCF	chr11:64535138-64535552	HepG2	liver:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
9	POLR2A	chr11:64534476-64538772	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr11:64535124-64535495	H1-hESC	embryonic stem cell:	n/a	chr11:64535352-64535366 chr11:64535348-64535367
11	CTCF	chr11:64535131-64535565	MCF-7	breast:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
12	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
13	CTCF	chr11:64535280-64535430	HRE	kidney:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
14	POLR2A	chr11:64534486-64538674	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
16	CTCF	chr11:64535205-64535692	GM19238	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
17	CTCF	chr11:64535280-64535430	AG09309	skin:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
18	JUND	chr11:64535278-64535459	K562	blood:	n/a	n/a
19	HEY1	chr11:64535179-64535574	K562	blood:	n/a	n/a
20	TBL1XR1	chr11:64535285-64535419	GM12878	blood:	n/a	n/a
21	CTCF	chr11:64535300-64535450	GM12875	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
22	ELF1	chr11:64535186-64535562	A549	lung:	n/a	n/a
23	POLR2A	chr11:64533761-64543234	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
25	CTCF	chr11:64535280-64535430	NHDF-neo	bronchial:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
26	CTCF	chr11:64535280-64535430	HMEC	breast:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
27	CTCF	chr11:64535280-64535430	HEEpiC	esophagus:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
28	CTCF	chr11:64535280-64535430	NHLF	lung:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
29	RAD21	chr11:64535181-64535513	SK-N-SH_RA	brain:	n/a	chr11:64535352-64535366 chr11:64535348-64535367
30	GTF2F1	chr11:64535299-64535433	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:64535300-64535450	NHDF-neo	bronchial:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
32	CTCF	chr11:64535300-64535450	GM12872	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
33	ZNF143	chr11:64535220-64535543	K562	blood:	n/a	n/a
34	CTCF	chr11:64535240-64535390	GM12878	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
35	CTCF	chr11:64535165-64535538	K562	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
36	POLR2A	chr11:64535089-64535709	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:64535300-64535450	GM12873	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
38	POLR2A	chr11:64534623-64535889	GM18505	blood:	n/a	n/a
39	CTCF	chr11:64535231-64535495	GM13977	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
40	ZMIZ1	chr11:64535278-64535440	K562	blood:	n/a	n/a
41	CTCF	chr11:64535256-64535455	GM20000	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
42	CTCF	chr11:64535300-64535450	HA-sp	spinal cord:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
43	CTCF	chr11:64535280-64535430	HepG2	liver:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
44	CTCF	chr11:64535222-64535519	GM10266	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
45	ELF1	chr11:64535155-64535594	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
47	CTCF	chr11:64535280-64535430	GM12875	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
48	CTCF	chr11:64535300-64535450	HAc	cerebellar:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
49	CTCF	chr11:64535320-64535470	BE2_C	brain:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365
50	CTCF	chr11:64535300-64535450	NB4	blood:	n/a	chr11:64535352-64535365 chr11:64535351-64535367 chr11:64535345-64535366 chr11:64535350-64535368 chr11:64535352-64535365

No.	Distal block	Cell Line	Cell type
1	chr11:64510798..64511324-chr11:64535005..64535845,2	MCF-7	breast:
2	chr11:64478005..64481824-chr11:64534394..64538447,4	K562	blood:
3	chr11:64534108..64536503-chr11:64654946..64656534,2	K562	blood:
4	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

Variant related genes	Relation type
SF1	TF binding region
ENSG00000068831	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000110047	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12272531	1.00[AMR][1000 genomes]
rs1783523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs484886	0.84[AFR][1000 genomes]
rs523964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9285810	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	1075 gene(s)	inside rSNPs	diseases
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription 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	82 gene(s)	inside rSNPs	diseases
9	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
11	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
17	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong 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 lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
18	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr11:64528000-64536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:64529600-64543200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:64529800-64536000	Genic enhancers	Fetal Thymus	thymus
6	chr11:64529800-64537800	Genic enhancers	Dnd41	blood
7	chr11:64529800-64539400	Strong transcription	Liver	Liver
8	chr11:64529800-64543200	Strong transcription	Fetal Brain Female	brain
9	chr11:64529800-64543600	Strong transcription	Fetal Lung	lung
10	chr11:64529800-64543600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:64530000-64541200	Strong transcription	Aorta	Aorta
12	chr11:64530000-64543400	Strong transcription	Fetal Intestine Large	intestine
13	chr11:64530200-64540200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:64530400-64543000	Strong transcription	Hela-S3	cervix
15	chr11:64530400-64544200	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr11:64530600-64544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:64531000-64536400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:64531200-64535600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64531200-64535800	Genic enhancers	H1 Cell Line	embryonic stem cell
20	chr11:64531400-64535400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:64531400-64535800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:64531400-64538600	Strong transcription	Esophagus	oesophagus
23	chr11:64531400-64542600	Strong transcription	Gastric	stomach
24	chr11:64531400-64543600	Strong transcription	NHDF-Ad	bronchial
25	chr11:64531600-64540400	Strong transcription	HepG2	liver
26	chr11:64531600-64542800	Strong transcription	K562	blood
27	chr11:64531800-64535600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:64531800-64535600	Genic enhancers	Brain Anterior Caudate	brain
29	chr11:64531800-64535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:64531800-64535800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:64531800-64539200	Strong transcription	Pancreas	Pancrea
32	chr11:64531800-64539400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:64531800-64539600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:64531800-64540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:64531800-64541000	Strong transcription	Small Intestine	intestine
36	chr11:64532000-64536000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:64532000-64539000	Strong transcription	HSMMtube	muscle
38	chr11:64532000-64539600	Strong transcription	Adipose Nuclei	Adipose
39	chr11:64532000-64539800	Strong transcription	Stomach Mucosa	stomach
40	chr11:64532000-64542800	Strong transcription	Brain Germinal Matrix	brain
41	chr11:64532000-64543000	Weak transcription	Right Atrium	heart
42	chr11:64532000-64543600	Strong transcription	HSMM	muscle
43	chr11:64532000-64543800	Strong transcription	Osteobl	bone
44	chr11:64532000-64544000	Strong transcription	Colonic Mucosa	Colon
45	chr11:64532000-64544000	Strong transcription	Fetal Stomach	stomach
46	chr11:64532200-64539200	Strong transcription	Brain Hippocampus Middle	brain
47	chr11:64532200-64540200	Strong transcription	Ovary	ovary
48	chr11:64532400-64536200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:64532400-64538800	Strong transcription	Fetal Kidney	kidney
50	chr11:64532400-64543400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links