Variant report

Variant	rs41326649
Chromosome Location	chrX:64136689-64136690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12008701	1.00[MEX][hapmap]
rs16989570	1.00[MEX][hapmap]
rs5964408	1.00[MEX][hapmap]
rs5964893	1.00[MEX][hapmap]
rs5964897	1.00[MEX][hapmap]
rs6418382	0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs6418383	1.00[MEX][hapmap];0.91[YRI][hapmap]
rs6524946	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6524947	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs6653206	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6653207	1.00[YRI][hapmap]
rs7055125	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs7055159	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs7876526	0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs7877430	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756772	chrX:63509553-64136689	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS 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
2	esv2758870	chrX:63509553-64136689	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	esv2830378	chrX:63523802-64234414	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64125400-64137400	Weak transcription	Primary B cells from peripheral blood	blood
2	chrX:64125600-64136800	Weak transcription	Ovary	ovary
3	chrX:64126200-64143200	Weak transcription	Primary hematopoietic stem cells	blood
4	chrX:64126600-64136800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chrX:64127200-64143000	Weak transcription	Fetal Kidney	kidney
6	chrX:64127600-64138400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chrX:64127600-64143000	Weak transcription	Right Ventricle	heart
8	chrX:64127800-64136800	Weak transcription	Lung	lung
9	chrX:64128000-64136800	Weak transcription	Brain Anterior Caudate	brain
10	chrX:64129200-64137400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chrX:64129600-64141600	Weak transcription	Fetal Lung	lung
12	chrX:64131400-64137200	Weak transcription	Primary T cells from cord blood	blood
13	chrX:64132200-64155200	Weak transcription	Small Intestine	intestine
14	chrX:64132400-64143000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chrX:64132800-64136800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chrX:64133000-64141200	Weak transcription	HSMMtube	muscle
17	chrX:64133000-64141400	Weak transcription	Esophagus	oesophagus
18	chrX:64133200-64138600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chrX:64133400-64136800	Weak transcription	Fetal Muscle Trunk	muscle
20	chrX:64133400-64137000	Weak transcription	Left Ventricle	heart
21	chrX:64133400-64142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:64133600-64143200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chrX:64133800-64136800	Weak transcription	Brain Germinal Matrix	brain
24	chrX:64133800-64140800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chrX:64133800-64142400	Strong transcription	Dnd41	blood
26	chrX:64134000-64137000	Weak transcription	Duodenum Mucosa	Duodenum
27	chrX:64134000-64141400	Weak transcription	Brain Substantia Nigra	brain
28	chrX:64134000-64141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chrX:64134000-64142600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chrX:64134200-64138800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chrX:64134200-64140000	Weak transcription	Rectal Smooth Muscle	rectum
32	chrX:64134400-64140800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chrX:64134400-64141000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chrX:64134800-64137000	Weak transcription	Gastric	stomach
35	chrX:64134800-64140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chrX:64135000-64142000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chrX:64135000-64143000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chrX:64135200-64138000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chrX:64135200-64140800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chrX:64135200-64141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chrX:64135200-64141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chrX:64135200-64142600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chrX:64135400-64137000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chrX:64135400-64137600	Weak transcription	HSMM	muscle
45	chrX:64135400-64139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chrX:64135400-64140400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chrX:64135400-64142000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chrX:64135600-64137200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chrX:64135600-64137800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chrX:64135600-64138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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