Variant report

Variant	rs1843395
Chromosome Location	chrX:65823606-65823607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10521337	1.00[YRI][hapmap]
rs12855916	0.85[YRI][hapmap]
rs1485682	0.85[YRI][hapmap]
rs4827380	0.85[YRI][hapmap]
rs5918658	0.85[YRI][hapmap]
rs5964553	1.00[YRI][hapmap]
rs5964554	0.80[ASW][hapmap];0.89[YRI][hapmap]
rs5964555	1.00[ASW][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs5965275	1.00[YRI][hapmap]
rs5965276	1.00[YRI][hapmap]
rs5965277	0.90[ASW][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap]
rs5965278	1.00[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs5965279	1.00[YRI][hapmap]
rs7052948	0.86[LWK][hapmap];0.81[MKK][hapmap];0.84[YRI][hapmap]
rs729021	1.00[ASW][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs995618	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv916917	chrX:65628203-65966658	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv498092	chrX:65628203-66170369	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv949354	chrX:65705774-65952293	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv432334	chrX:65705774-66018207	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv520630	chrX:65706079-66017027	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv529910	chrX:65738026-66025016	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv532867	chrX:65768210-65926263	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv532866	chrX:65768210-65927478	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv532865	chrX:65768210-65952059	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv432336	chrX:65808595-65913868	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv534422	chrX:65815490-65894956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv534223	chrX:65815490-65895015	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65810200-65827400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chrX:65812800-65825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chrX:65815000-65825400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chrX:65815400-65827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:65815400-65852200	Weak transcription	HepG2	liver
6	chrX:65815600-65823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chrX:65816200-65825200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:65817600-65824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chrX:65818000-65824200	Weak transcription	Pancreas	Pancrea
10	chrX:65818000-65834200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chrX:65819600-65824600	Weak transcription	HMEC	breast
12	chrX:65819600-65826400	Weak transcription	NHLF	lung
13	chrX:65819800-65825000	Strong transcription	Aorta	Aorta
14	chrX:65819800-65837200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chrX:65820400-65824200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chrX:65820400-65852400	Weak transcription	NH-A	brain
17	chrX:65821200-65824600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chrX:65821200-65825200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chrX:65821600-65824000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chrX:65822200-65824600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chrX:65822200-65826600	Weak transcription	Brain Substantia Nigra	brain
22	chrX:65822600-65841400	Weak transcription	NHDF-Ad	bronchial
23	chrX:65822600-65841800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chrX:65822600-65852600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chrX:65822800-65827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chrX:65822800-65828800	Weak transcription	Osteobl	bone
27	chrX:65822800-65829600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chrX:65822800-65835400	Weak transcription	Ovary	ovary
29	chrX:65822800-65842600	Weak transcription	HSMMtube	muscle
30	chrX:65823000-65827000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chrX:65823000-65845000	Weak transcription	A549	lung
32	chrX:65823400-65824800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chrX:65823400-65827800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chrX:65823400-65833400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chrX:65823400-65835400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chrX:65823400-65842000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chrX:65823600-65827600	Weak transcription	Brain Hippocampus Middle	brain
38	chrX:65823600-65842400	Weak transcription	HSMM	muscle

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