Variant report

Variant	rs2485733
Chromosome Location	chrX:138911428-138911429
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:138909179..138912021-chrX:139015740..139017279,2	K562	blood:
2	chrX:138898042..138899738-chrX:138910975..138912939,2	K562	blood:
3	chrX:138910196..138912152-chrX:138915456..138917020,2	K562	blood:
4	chrX:138907383..138910299-chrX:138911001..138913816,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12687833	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs12688014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12688450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12688688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12688705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12689725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1338059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1361155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1415887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17281969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17281990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17282011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17282039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17282067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17282081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17328640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17328647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs17328703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17328709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2183251	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2252290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2485721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2485722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2485724	1.00[CHB][hapmap]
rs2485728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2485729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs2485732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2491005	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2491006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2491009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2497266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2497273	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2497274	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2497277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2497280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2497281	1.00[CHB][hapmap]
rs2497282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs2497284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2772192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2772194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2805901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2805902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4239992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4363374	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs4824924	1.00[CEU][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs5908669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5908746	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs5953621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5953643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5953692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5953748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5953790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5954529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5954562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5954594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6528650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6528651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6635906	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6654371	1.00[CEU][hapmap]
rs7061584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7885696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138855000-138915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chrX:138868200-138913600	Weak transcription	Left Ventricle	heart
3	chrX:138868600-138914000	Weak transcription	Stomach Smooth Muscle	stomach
4	chrX:138869000-138915600	Weak transcription	Fetal Stomach	stomach
5	chrX:138870600-138913400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chrX:138880200-138913600	Weak transcription	Primary B cells from cord blood	blood
7	chrX:138881400-138913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chrX:138884000-138913600	Weak transcription	Fetal Thymus	thymus
9	chrX:138884400-138913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:138888400-138913000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chrX:138899600-138913000	Weak transcription	Primary T cells from cord blood	blood
12	chrX:138899800-138914200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chrX:138900000-138913400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chrX:138900200-138912800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chrX:138900200-138913000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chrX:138900200-138913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chrX:138900200-138915200	Weak transcription	Brain Germinal Matrix	brain
18	chrX:138900600-138913600	Weak transcription	Primary B cells from peripheral blood	blood
19	chrX:138903600-138913600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chrX:138907000-138916800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chrX:138907200-138911800	Enhancers	Osteobl	bone
22	chrX:138907200-138916000	Enhancers	Liver	Liver
23	chrX:138907600-138914200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:138907800-138913000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chrX:138908200-138912600	Weak transcription	Primary hematopoietic stem cells	blood
26	chrX:138908200-138917000	Weak transcription	K562	blood
27	chrX:138908400-138912200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chrX:138908400-138913000	Weak transcription	Fetal Heart	heart
29	chrX:138908400-138913200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chrX:138908400-138913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chrX:138908400-138913600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chrX:138908400-138913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chrX:138909000-138913800	Weak transcription	Duodenum Mucosa	Duodenum
34	chrX:138909200-138911600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chrX:138909200-138912800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chrX:138909200-138913000	Weak transcription	Brain Hippocampus Middle	brain
37	chrX:138909200-138914000	Weak transcription	HSMM	muscle
38	chrX:138909400-138913200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chrX:138909400-138913200	Weak transcription	NHLF	lung
40	chrX:138909400-138913600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chrX:138909600-138913200	Weak transcription	HUVEC	blood vessel
42	chrX:138909600-138913600	Weak transcription	NH-A	brain
43	chrX:138909800-138923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:138910000-138911800	Enhancers	Colon Smooth Muscle	Colon
45	chrX:138910200-138915200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chrX:138910600-138912000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chrX:138910600-138914200	Weak transcription	A549	lung
48	chrX:138910600-138915600	Weak transcription	Fetal Intestine Small	intestine
49	chrX:138910600-138916400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:138910800-138915600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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