Variant report

Variant	rs2664170
Chromosome Location	chrX:153945602-153945603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:153945551..153947746-chrX:153948618..153950353,2	MCF-7	breast:
2	chrX:153941446..153943455-chrX:153945176..153947519,3	K562	blood:
3	chrX:153945510..153948324-chrX:153977312..153980587,3	K562	blood:
4	chrX:153945498..153948433-chrX:153965019..153967909,3	K562	blood:
5	chrX:153945382..153951855-chrX:153952436..153958335,9	K562	blood:
6	chrX:153943407..153945840-chrX:153947383..153949982,2	K562	blood:

Variant related genes	Relation type
ENSG00000160219	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10127172	0.89[CHB][hapmap]
rs1800533	0.85[GIH][hapmap]
rs1848763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2063320	0.85[GIH][hapmap];0.88[JPT][hapmap]
rs2664169	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2728526	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs2728530	0.89[CHB][hapmap]
rs2728538	0.81[MEX][hapmap]
rs2728725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs4326559	0.89[CHB][hapmap]
rs4431759	0.89[CHB][hapmap]
rs4526543	0.89[CHB][hapmap]
rs5945222	0.89[CHB][hapmap]
rs5945223	0.89[CHB][hapmap]
rs5945224	0.89[CHB][hapmap]
rs5945232	0.88[CEU][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap]
rs5945233	0.94[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs5987005	0.88[CHB][hapmap]
rs5987011	0.89[CHB][hapmap]
rs5987015	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs5987016	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs6643615	0.88[CHB][hapmap]
rs6643620	0.88[MEX][hapmap]
rs884840	0.89[CHB][hapmap]

Variant related diseases (count:1)

Disease	PMID	Source
Type 1 diabetes	19430480	GWAS catalog

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153920400-153945800	Weak transcription	Colon Smooth Muscle	Colon
2	chrX:153924200-153955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chrX:153925000-153957200	Weak transcription	Brain Hippocampus Middle	brain
4	chrX:153927800-153947400	Weak transcription	Fetal Heart	heart
5	chrX:153934000-153946800	Weak transcription	Fetal Intestine Small	intestine
6	chrX:153936400-153955400	Weak transcription	Psoas Muscle	Psoas
7	chrX:153939000-153947400	Weak transcription	Liver	Liver
8	chrX:153941400-153945800	Weak transcription	Thymus	Thymus
9	chrX:153941400-153961000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chrX:153941600-153945800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chrX:153941600-153945800	Weak transcription	Right Atrium	heart
12	chrX:153941600-153945800	Weak transcription	HSMMtube	muscle
13	chrX:153941600-153946000	Weak transcription	Fetal Kidney	kidney
14	chrX:153941600-153946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chrX:153941600-153946800	Weak transcription	Right Ventricle	heart
16	chrX:153941600-153957000	Weak transcription	Aorta	Aorta
17	chrX:153941800-153945800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chrX:153941800-153945800	Weak transcription	Spleen	Spleen
19	chrX:153941800-153945800	Weak transcription	NH-A	brain
20	chrX:153941800-153945800	Weak transcription	NHDF-Ad	bronchial
21	chrX:153941800-153945800	Weak transcription	Osteobl	bone
22	chrX:153941800-153946000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chrX:153941800-153946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chrX:153941800-153946000	Weak transcription	Duodenum Mucosa	Duodenum
25	chrX:153941800-153946000	Weak transcription	Left Ventricle	heart
26	chrX:153941800-153946000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chrX:153941800-153946000	Weak transcription	GM12878-XiMat	blood
28	chrX:153941800-153946200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chrX:153941800-153946200	Weak transcription	Lung	lung
30	chrX:153941800-153947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chrX:153942000-153945800	Weak transcription	Adipose Nuclei	Adipose
32	chrX:153942000-153945800	Weak transcription	HSMM	muscle
33	chrX:153942000-153945800	Weak transcription	HUVEC	blood vessel
34	chrX:153942000-153946000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chrX:153942400-153945800	Weak transcription	Primary B cells from cord blood	blood
36	chrX:153943200-153946000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chrX:153943400-153945800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chrX:153944200-153947000	Enhancers	Primary hematopoietic stem cells	blood
39	chrX:153944200-153948200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chrX:153944400-153947200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chrX:153944600-153945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chrX:153944800-153948600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chrX:153944800-153950200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chrX:153945000-153946400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chrX:153945200-153946000	Enhancers	Primary T cells fromperipheralblood	blood
46	chrX:153945200-153946000	Enhancers	Dnd41	blood
47	chrX:153945200-153947600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chrX:153945400-153945800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chrX:153945400-153945800	Enhancers	K562	blood
50	chrX:153945400-153946200	Enhancers	Fetal Stomach	stomach

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