Variant report

Variant	rs72640154
Chromosome Location	chrX:134460316-134460317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10771638	0.83[EUR][1000 genomes]
rs10771639	0.96[EUR][1000 genomes]
rs10771640	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10771641	0.89[EUR][1000 genomes]
rs10771642	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771647	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771648	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843617	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843618	0.96[EUR][1000 genomes]
rs10843619	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843620	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050669	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11050670	0.84[EUR][1000 genomes]
rs11050672	0.96[EUR][1000 genomes]
rs11050673	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050674	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11050675	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12366875	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1385562	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1385563	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1485425	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1552342	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552343	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552344	0.84[EUR][1000 genomes]
rs1909182	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1909183	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1973268	0.84[AMR][1000 genomes]
rs2171038	0.86[EUR][1000 genomes]
rs2200410	0.86[EUR][1000 genomes]
rs2200412	0.84[EUR][1000 genomes]
rs2351209	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2351210	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351211	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3959917	0.83[EUR][1000 genomes]
rs4244851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930885	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930886	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930888	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930889	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930890	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931264	0.83[EUR][1000 genomes]
rs4931265	0.84[EUR][1000 genomes]
rs4931266	0.84[EUR][1000 genomes]
rs4931268	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487880	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487883	0.81[EUR][1000 genomes]
rs7296068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297032	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7299613	0.86[EUR][1000 genomes]
rs7310880	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311139	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7313801	0.86[EUR][1000 genomes]
rs8181729	0.95[EUR][1000 genomes]
rs901075	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs901076	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs901077	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv931406	chrX:134292347-134800326	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv917314	chrX:134292347-134910134	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:134442200-134472800	Weak transcription	Right Ventricle	heart
2	chrX:134449600-134474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chrX:134449800-134472800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chrX:134450000-134461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chrX:134450400-134461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chrX:134450400-134475600	Weak transcription	A549	lung
7	chrX:134451600-134474400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chrX:134451800-134461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chrX:134451800-134473600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chrX:134451800-134475400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chrX:134451800-134476200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:134451800-134476400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chrX:134452000-134465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chrX:134452000-134465600	Weak transcription	Gastric	stomach
15	chrX:134453600-134461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chrX:134453600-134470400	Weak transcription	Fetal Heart	heart
17	chrX:134453800-134461400	Weak transcription	Right Atrium	heart
18	chrX:134454000-134465800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chrX:134455200-134465600	Weak transcription	Psoas Muscle	Psoas
20	chrX:134455600-134473000	Weak transcription	Brain Hippocampus Middle	brain
21	chrX:134455800-134461400	Weak transcription	Hela-S3	cervix
22	chrX:134455800-134461600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chrX:134456200-134462400	Weak transcription	Spleen	Spleen
24	chrX:134456200-134462600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chrX:134456200-134465600	Weak transcription	Left Ventricle	heart
26	chrX:134456200-134473000	Weak transcription	Esophagus	oesophagus
27	chrX:134456200-134473200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chrX:134456400-134465800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chrX:134456400-134467200	Weak transcription	Primary B cells from cord blood	blood
30	chrX:134456600-134466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chrX:134456800-134469200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chrX:134457200-134462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chrX:134457400-134462200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chrX:134457400-134472200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chrX:134457600-134473000	Weak transcription	Primary T cells from cord blood	blood
36	chrX:134457600-134476400	Weak transcription	HSMMtube	muscle
37	chrX:134458000-134472800	Weak transcription	GM12878-XiMat	blood
38	chrX:134458200-134471800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chrX:134458800-134462200	Weak transcription	Primary hematopoietic stem cells	blood
40	chrX:134458800-134465200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chrX:134458800-134468800	Weak transcription	Duodenum Mucosa	Duodenum
42	chrX:134458800-134475000	Weak transcription	Thymus	Thymus
43	chrX:134458800-134475200	Weak transcription	Brain Substantia Nigra	brain
44	chrX:134459000-134460800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chrX:134459000-134460800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chrX:134459000-134465600	Weak transcription	Pancreas	Pancrea
47	chrX:134459000-134473000	Weak transcription	Liver	Liver
48	chrX:134459000-134473200	Weak transcription	Primary B cells from peripheral blood	blood
49	chrX:134459200-134463400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:134459200-134473000	Weak transcription	HepG2	liver

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