Variant report

Variant	rs2695317
Chromosome Location	chr2:178416622-178416623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
2	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
3	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
4	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
5	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:

Variant related genes	Relation type
ENSG00000213963	Chromatin interaction
ENSG00000197557	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000263721	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10497494	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10497495	0.94[JPT][hapmap]
rs10497498	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1106074	0.94[JPT][hapmap]
rs1527405	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1527408	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16865443	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865444	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865446	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865448	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865449	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865452	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865453	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs16865475	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs16865492	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16865501	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865508	0.85[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap]
rs16865509	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865514	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs16865524	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2178018	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2293472	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2293473	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3731803	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3731804	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3731806	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3770019	0.82[JPT][hapmap]
rs3770022	0.84[JPT][hapmap]
rs3821003	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821004	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821005	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6745743	0.94[JPT][hapmap]
rs9288008	0.82[CHB][hapmap];0.82[JPT][hapmap]

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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv961534	chr2:178415704-178417609	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
2	chr2:178389000-178416800	Weak transcription	Small Intestine	intestine
3	chr2:178389800-178416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:178392000-178416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:178403800-178416800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:178405400-178416800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:178407800-178416800	Weak transcription	Fetal Brain Male	brain
8	chr2:178411400-178416800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:178411400-178416800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:178411400-178416800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:178412000-178417000	Enhancers	HUVEC	blood vessel
12	chr2:178413400-178416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:178413600-178416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:178414400-178416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178414600-178416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:178415000-178417000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:178415400-178417000	Enhancers	Fetal Heart	heart
18	chr2:178415600-178416800	Enhancers	Fetal Kidney	kidney
19	chr2:178415800-178416800	Weak transcription	K562	blood
20	chr2:178415800-178416800	Weak transcription	NHEK	skin
21	chr2:178416200-178416800	Enhancers	Right Ventricle	heart
22	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:178416400-178416800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:178416600-178416800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:178416600-178416800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:178416600-178416800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:178416600-178416800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:178416600-178416800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:178416600-178416800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:178416600-178416800	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:178416600-178416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:178416600-178416800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:178416600-178416800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:178416600-178416800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:178416600-178416800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:178416600-178416800	Enhancers	Liver	Liver
37	chr2:178416600-178416800	Enhancers	Brain Hippocampus Middle	brain
38	chr2:178416600-178416800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:178416600-178416800	Enhancers	Colonic Mucosa	Colon
40	chr2:178416600-178416800	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:178416600-178416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:178416600-178416800	Enhancers	Esophagus	oesophagus
43	chr2:178416600-178416800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:178416600-178416800	Enhancers	Fetal Brain Female	brain
45	chr2:178416600-178416800	Enhancers	Fetal Intestine Small	intestine
46	chr2:178416600-178416800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:178416600-178416800	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:178416600-178416800	Enhancers	Fetal Muscle Leg	muscle
49	chr2:178416600-178416800	Enhancers	Fetal Stomach	stomach
50	chr2:178416600-178416800	Enhancers	Gastric	stomach

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