Variant report

Variant	rs2066364
Chromosome Location	chrX:109272856-109272857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:109272583..109275221-chrX:109278668..109280873,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11152597	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs11797230	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs12841904	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs1418393	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs2795995	1.00[YRI][hapmap]
rs2881449	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.80[TSI][hapmap]
rs34247395	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs4081383	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs4421522	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs4628434	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs4893450	0.86[CHB][hapmap]
rs5942620	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs5942626	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap]
rs5942628	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs5942629	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs5942880	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942883	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs5942886	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942887	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs5942890	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs5942896	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs5942897	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs5942899	0.80[MKK][hapmap];1.00[YRI][hapmap]
rs5985271	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5985439	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs5985440	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs5985442	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs5985446	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs947592	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531154	chrX:108934095-109332109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2066364	CXCL14	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109246800-109294000	Weak transcription	Primary T cells from cord blood	blood
2	chrX:109247400-109282200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chrX:109247400-109318200	Weak transcription	Thymus	Thymus
4	chrX:109248600-109310200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chrX:109249400-109273400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chrX:109251000-109286200	Weak transcription	Primary hematopoietic stem cells	blood
7	chrX:109265400-109275800	Weak transcription	Brain Anterior Caudate	brain
8	chrX:109265400-109292600	Weak transcription	Aorta	Aorta
9	chrX:109266200-109279200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chrX:109266600-109280000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chrX:109266600-109318000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chrX:109266800-109277200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chrX:109267200-109377800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chrX:109267400-109276600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:109268000-109279800	Weak transcription	Primary B cells from peripheral blood	blood
16	chrX:109268800-109279800	Weak transcription	Primary B cells from cord blood	blood
17	chrX:109269800-109273400	Weak transcription	Left Ventricle	heart
18	chrX:109269800-109282600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chrX:109270000-109275400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:109270000-109275400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chrX:109270000-109275400	Weak transcription	Stomach Mucosa	stomach
22	chrX:109270000-109279000	Weak transcription	Fetal Intestine Small	intestine
23	chrX:109270000-109280200	Weak transcription	Fetal Intestine Large	intestine
24	chrX:109270000-109290000	Weak transcription	Right Ventricle	heart
25	chrX:109270200-109275200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chrX:109270200-109311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chrX:109270400-109275800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chrX:109270400-109282400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chrX:109270800-109274400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chrX:109270800-109288000	Weak transcription	Right Atrium	heart
31	chrX:109271400-109279400	Weak transcription	Duodenum Mucosa	Duodenum
32	chrX:109271600-109273000	Enhancers	A549	lung
33	chrX:109271800-109273200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chrX:109272200-109273000	Enhancers	H9 Cell Line	embryonic stem cell
35	chrX:109272200-109273000	Enhancers	Fetal Heart	heart
36	chrX:109272200-109273200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chrX:109272400-109273000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chrX:109272400-109273000	Enhancers	Small Intestine	intestine
39	chrX:109272400-109275400	Weak transcription	Brain Angular Gyrus	brain
40	chrX:109272600-109273000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chrX:109272600-109273200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chrX:109272600-109273200	Strong transcription	K562	blood
43	chrX:109272600-109275400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chrX:109272800-109273000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chrX:109272800-109273200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chrX:109272800-109273200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chrX:109272800-109273200	Enhancers	Hela-S3	cervix

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