Variant report

Variant	rs2795995
Chromosome Location	chrX:109419165-109419166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:109415894..109419327-chrX:109639284..109641304,3	MCF-7	breast:
2	chrX:109415002..109419479-chrX:109644619..109652883,12	MCF-7	breast:
3	chrX:109418950..109420739-chrX:109502257..109504733,2	K562	blood:
4	chrX:109418045..109420172-chrX:109559873..109562031,2	MCF-7	breast:
5	chrX:109419131..109420847-chrX:109655049..109657917,2	MCF-7	breast:
6	chrX:109419025..109420891-chrX:109421378..109423169,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGAG1-2	chrX:109418975-109421014	NONHSAT138165

No data

Variant related genes	Relation type
ENSG00000101935	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1623948	0.87[CHB][hapmap]
rs1770343	0.87[CHB][hapmap]
rs1774690	0.87[CHB][hapmap]
rs1774691	0.87[CHB][hapmap]
rs2066364	1.00[YRI][hapmap]
rs2791640	0.87[CHB][hapmap]
rs2795991	0.87[CHB][hapmap]
rs2795992	0.87[CHB][hapmap]
rs2795993	0.87[CHB][hapmap]
rs2795994	0.87[CHB][hapmap]
rs5942899	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs946820	0.87[CHB][hapmap]
rs946821	0.87[CHB][hapmap]
rs946822	0.87[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3369563	chrX:109079631-109573656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109389600-109423200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:109389800-109431800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chrX:109390400-109432000	Weak transcription	Primary hematopoietic stem cells	blood
4	chrX:109403000-109428200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chrX:109404200-109423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chrX:109408400-109443600	Weak transcription	Small Intestine	intestine
7	chrX:109408600-109419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chrX:109410800-109420800	Weak transcription	Fetal Heart	heart
9	chrX:109410800-109428600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chrX:109411400-109423400	Weak transcription	Fetal Thymus	thymus
11	chrX:109411400-109423600	Strong transcription	Fetal Intestine Small	intestine
12	chrX:109411600-109421200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chrX:109411600-109423200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chrX:109411600-109423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chrX:109411600-109423600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chrX:109411600-109424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chrX:109411800-109422400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chrX:109411800-109432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chrX:109413400-109423400	Weak transcription	Colonic Mucosa	Colon
20	chrX:109413400-109429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chrX:109414400-109420000	Weak transcription	Brain Cingulate Gyrus	brain
22	chrX:109414600-109419600	Enhancers	Ovary	ovary
23	chrX:109414600-109419800	Strong transcription	Duodenum Mucosa	Duodenum
24	chrX:109414600-109421400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chrX:109414600-109426400	Enhancers	Placenta	Placenta
26	chrX:109415000-109420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chrX:109415400-109420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chrX:109415400-109420000	Strong transcription	Fetal Intestine Large	intestine
29	chrX:109415400-109423400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chrX:109415400-109432000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chrX:109415600-109419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chrX:109415600-109428200	Weak transcription	Aorta	Aorta
33	chrX:109416000-109420000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chrX:109416000-109428600	Weak transcription	Dnd41	blood
35	chrX:109416200-109423400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chrX:109416200-109460400	Weak transcription	Primary B cells from cord blood	blood
37	chrX:109416400-109424000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chrX:109416800-109420600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chrX:109417000-109419200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chrX:109417000-109419400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chrX:109417000-109426000	Weak transcription	Primary T cells from cord blood	blood
42	chrX:109417200-109419800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chrX:109417200-109421800	Enhancers	Left Ventricle	heart
44	chrX:109417200-109441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chrX:109417400-109419800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chrX:109417400-109421200	Weak transcription	Lung	lung
47	chrX:109417400-109422600	Weak transcription	NH-A	brain
48	chrX:109417400-109423200	Weak transcription	NHLF	lung
49	chrX:109417400-109423200	Weak transcription	Osteobl	bone
50	chrX:109417400-109425800	Weak transcription	Primary B cells from peripheral blood	blood

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