Variant report

Variant	rs806609
Chromosome Location	chrX:65431706-65431707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1011526	1.00[CEU][hapmap]
rs1068536	0.87[CEU][hapmap]
rs1068537	0.86[CEU][hapmap]
rs1068538	0.86[CEU][hapmap];0.95[YRI][hapmap]
rs1090752	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs1090842	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs1091486	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs1264212	1.00[CEU][hapmap]
rs1264216	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1264218	1.00[CEU][hapmap]
rs13440529	0.86[CEU][hapmap]
rs1456803	0.87[CEU][hapmap]
rs1456804	0.86[CEU][hapmap]
rs1456806	0.86[CEU][hapmap]
rs17301659	1.00[CEU][hapmap]
rs1989028	1.00[CEU][hapmap]
rs2054179	0.87[CEU][hapmap];0.91[YRI][hapmap]
rs2198868	0.87[CEU][hapmap]
rs2198869	0.87[CEU][hapmap]
rs2206203	1.00[CEU][hapmap]
rs4827365	0.87[CEU][hapmap];0.91[YRI][hapmap]
rs5918594	0.86[CEU][hapmap]
rs5919024	0.86[CEU][hapmap]
rs5964495	1.00[CEU][hapmap]
rs5964499	1.00[CEU][hapmap]
rs5964500	1.00[CEU][hapmap]
rs5965105	1.00[CEU][hapmap]
rs5965106	1.00[CEU][hapmap]
rs5965110	1.00[CEU][hapmap]
rs5965118	0.85[YRI][hapmap]
rs651494	0.87[CEU][hapmap]
rs6624875	1.00[CEU][hapmap]
rs6624876	1.00[CEU][hapmap]
rs699863	0.86[CEU][hapmap]
rs7054364	1.00[CEU][hapmap]
rs7062799	1.00[CEU][hapmap]
rs707298	0.87[CEU][hapmap]
rs707302	0.86[CEU][hapmap]
rs708966	0.86[CEU][hapmap]
rs708968	0.86[CEU][hapmap];0.95[YRI][hapmap]
rs708969	0.86[CEU][hapmap];0.95[YRI][hapmap]
rs760866	1.00[CEU][hapmap]
rs7891437	1.00[CEU][hapmap]
rs806538	0.87[CEU][hapmap]
rs806607	1.00[CEU][hapmap]
rs806608	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs806610	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs809363	0.93[CEU][hapmap];0.95[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	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	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
3	nsv916393	chrX:65269672-65521616	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3350331	chrX:65287003-65495627	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65383600-65442200	Weak transcription	Small Intestine	intestine
2	chrX:65384600-65435600	Weak transcription	Left Ventricle	heart
3	chrX:65385600-65435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:65387600-65435400	Weak transcription	Aorta	Aorta
5	chrX:65407000-65448000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chrX:65408400-65436000	Weak transcription	Brain Substantia Nigra	brain
7	chrX:65411800-65432000	Weak transcription	Colon Smooth Muscle	Colon
8	chrX:65414400-65435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chrX:65415000-65435600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chrX:65420600-65435400	Weak transcription	Fetal Stomach	stomach
11	chrX:65420600-65435600	Weak transcription	Colonic Mucosa	Colon
12	chrX:65421000-65437600	Weak transcription	Rectal Smooth Muscle	rectum
13	chrX:65422200-65433600	Weak transcription	Fetal Kidney	kidney
14	chrX:65424000-65435400	Weak transcription	Fetal Intestine Small	intestine
15	chrX:65426000-65435600	Weak transcription	Stomach Smooth Muscle	stomach
16	chrX:65426800-65432000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chrX:65427000-65431800	Strong transcription	Duodenum Mucosa	Duodenum
18	chrX:65427200-65431800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chrX:65428200-65446800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chrX:65428400-65435400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chrX:65428600-65435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chrX:65429200-65435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chrX:65429400-65435600	Weak transcription	Ovary	ovary
24	chrX:65429600-65435400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chrX:65430000-65432600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chrX:65430000-65432600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chrX:65430600-65435400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chrX:65430800-65432000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chrX:65430800-65432200	Weak transcription	K562	blood
30	chrX:65430800-65433600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chrX:65431000-65433600	Weak transcription	Fetal Intestine Large	intestine
32	chrX:65431200-65432600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chrX:65431400-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chrX:65431600-65433800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chrX:65431600-65433800	Weak transcription	Rectal Mucosa Donor 31	rectum

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