Variant report

Variant	rs62640922
Chromosome Location	chr11:57177593-57177594
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	POLR2A	chr11:57177368-57177594	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:57176128-57178142	HL-60	blood:	n/a	n/a
3	RCOR1	chr11:57177524-57178341	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:57177507-57178116	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:57176570-57178232	K562	blood:	n/a	n/a
6	POLR2A	chr11:57176143-57178183	K562	blood:	n/a	n/a
7	POLR2A	chr11:57177188-57177597	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:57177109-57177801	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:57177324-57178128	K562	blood:	n/a	n/a
10	POLR2A	chr11:57177401-57177960	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:57176091-57178228	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:57176226-57178132	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:57177119-57177673	K562	blood:	n/a	n/a
14	POLR2A	chr11:57177013-57178143	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254979	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2584857	0.89[EUR][1000 genomes]
rs3851116	1.00[EUR][1000 genomes]
rs6591424	1.00[EUR][1000 genomes]
rs6591426	0.96[EUR][1000 genomes]
rs72923979	1.00[EUR][1000 genomes]
rs72923987	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72923988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72923992	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57167400-57188200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:57171000-57184800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57172000-57185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57172600-57178000	Strong transcription	Primary T cells from cord blood	blood
6	chr11:57172600-57178000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:57172600-57178200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:57172600-57178200	Genic enhancers	GM12878-XiMat	blood
9	chr11:57172600-57180000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57172600-57189800	Strong transcription	Dnd41	blood
11	chr11:57172800-57178400	Strong transcription	Thymus	Thymus
12	chr11:57172800-57179200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:57172800-57185000	Weak transcription	NH-A	brain
14	chr11:57173000-57178200	Strong transcription	Aorta	Aorta
15	chr11:57173000-57179200	Strong transcription	Fetal Stomach	stomach
16	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:57173200-57178200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:57173200-57184400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
21	chr11:57173400-57182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:57173400-57182800	Weak transcription	Small Intestine	intestine
23	chr11:57173600-57177600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:57173600-57185600	Strong transcription	HMEC	breast
25	chr11:57173800-57178000	Strong transcription	Gastric	stomach
26	chr11:57174000-57179200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:57174200-57178200	Strong transcription	Brain Germinal Matrix	brain
28	chr11:57174200-57178200	Strong transcription	Esophagus	oesophagus
29	chr11:57174200-57179000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:57174200-57179200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr11:57174200-57184800	Weak transcription	Psoas Muscle	Psoas
32	chr11:57174200-57186200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:57174400-57177600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:57174400-57178600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:57174400-57183800	Weak transcription	Fetal Brain Male	brain
38	chr11:57174400-57185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:57174600-57177800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:57174600-57177800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:57174600-57178000	Strong transcription	Primary B cells from cord blood	blood
42	chr11:57174600-57178000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:57174600-57178000	Strong transcription	Colon Smooth Muscle	Colon
44	chr11:57174600-57178000	Strong transcription	Fetal Brain Female	brain
45	chr11:57174600-57179600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:57174600-57179800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:57174600-57182200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:57174600-57185800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:57174800-57177600	Strong transcription	Pancreas	Pancrea
50	chr11:57174800-57177600	Strong transcription	Osteobl	bone

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