Variant report

Variant	rs56915855
Chromosome Location	chr2:182762092-182762093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:182762032-182762590	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:182761094-182762113	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:182759864-182762129	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:182759737-182762987	K562	blood:	n/a	n/a
5	POLR2A	chr2:182755351-182762286	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:182762060-182762189	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:182760099-182762213	HCT-116	colon:	n/a	n/a
8	POLR2A	chr2:182761960-182762305	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182757398..182762251-chr2:182784880..182789284,4	K562	blood:
2	chr2:182659802..182662232-chr2:182760144..182763028,2	MCF-7	breast:
3	chr2:182760700..182762918-chr2:182812910..182815016,2	MCF-7	breast:
4	chr2:182760625..182763204-chr2:182996847..182998737,3	MCF-7	breast:
5	chr2:182753988..182769660-chr2:182938612..182954194,58	MCF-7	breast:
6	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
7	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:

No data

Variant related genes	Relation type
SSFA2	TF binding region
ENSG00000138434	Chromatin interaction
ENSG00000221023	Chromatin interaction
ENSG00000265129	Chromatin interaction

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

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

rs_ID	r²[population]
rs10194823	1.00[EUR][1000 genomes]
rs11901012	1.00[EUR][1000 genomes]
rs1427330	1.00[EUR][1000 genomes]
rs16867505	1.00[EUR][1000 genomes]
rs57618755	1.00[AMR][1000 genomes]
rs73032638	1.00[EUR][1000 genomes]
rs73975454	1.00[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182756000-182762200	Active TSS	Colonic Mucosa	Colon
2	chr2:182757600-182764200	Weak transcription	Gastric	stomach
3	chr2:182757600-182764200	Weak transcription	Spleen	Spleen
4	chr2:182757800-182763800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:182757800-182764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:182757800-182764200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:182757800-182764200	Weak transcription	Pancreas	Pancrea
8	chr2:182757800-182766400	Weak transcription	Lung	lung
9	chr2:182757800-182779400	Weak transcription	Esophagus	oesophagus
10	chr2:182757800-182779800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:182758000-182764000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:182758000-182764000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:182758000-182765800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:182758000-182780000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:182758200-182764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:182758200-182779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:182758200-182780200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:182758400-182764200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:182758400-182764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:182758400-182766800	Weak transcription	Fetal Brain Female	brain
23	chr2:182759000-182764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:182759000-182764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:182759200-182762800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:182759200-182763200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:182759200-182763600	Weak transcription	Primary B cells from cord blood	blood
28	chr2:182759200-182763800	Weak transcription	Fetal Brain Male	brain
29	chr2:182759200-182763800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:182759200-182763800	Weak transcription	Ovary	ovary
31	chr2:182759200-182764000	Enhancers	Brain Substantia Nigra	brain
32	chr2:182759200-182764000	Weak transcription	Left Ventricle	heart
33	chr2:182759200-182766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:182759400-182763400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:182759400-182763400	Weak transcription	Stomach Mucosa	stomach
37	chr2:182759400-182763600	Weak transcription	HSMMtube	muscle
38	chr2:182759400-182763800	Weak transcription	Primary T cells from cord blood	blood
39	chr2:182759400-182764000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:182759400-182764400	Weak transcription	Thymus	Thymus
41	chr2:182759400-182764800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:182759600-182762800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:182759600-182763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:182759600-182763800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:182759600-182763800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:182759600-182764200	Weak transcription	Right Ventricle	heart
47	chr2:182759600-182764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:182759600-182764400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:182759600-182764800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:182759600-182779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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