Variant report

Variant	rs4827365
Chromosome Location	chrX:65480342-65480343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1011526	0.86[CEU][hapmap]
rs1068536	1.00[CEU][hapmap]
rs1068537	1.00[CEU][hapmap]
rs1068538	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs1090752	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs1090842	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs1091486	0.86[CEU][hapmap];0.86[YRI][hapmap]
rs12395548	0.85[CEU][hapmap]
rs1264212	0.86[CEU][hapmap]
rs1264216	0.86[CEU][hapmap];0.91[YRI][hapmap]
rs1264218	0.87[CEU][hapmap]
rs1415297	0.85[CEU][hapmap]
rs1456803	1.00[CEU][hapmap]
rs1456804	1.00[CEU][hapmap]
rs1456806	1.00[CEU][hapmap]
rs17301659	0.86[CEU][hapmap]
rs1989028	0.87[CEU][hapmap]
rs2054179	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2198868	1.00[CEU][hapmap]
rs2198869	1.00[CEU][hapmap]
rs2206203	0.86[CEU][hapmap]
rs5918594	1.00[CEU][hapmap]
rs5919024	1.00[CEU][hapmap]
rs5919069	0.85[CEU][hapmap]
rs5964495	0.87[CEU][hapmap]
rs5964499	0.87[CEU][hapmap]
rs5964500	0.86[CEU][hapmap]
rs5965105	0.86[CEU][hapmap]
rs5965106	0.86[CEU][hapmap]
rs5965110	0.86[CEU][hapmap]
rs5965118	0.86[YRI][hapmap]
rs651494	1.00[CEU][hapmap]
rs6624875	0.86[CEU][hapmap]
rs6624876	0.86[CEU][hapmap]
rs699863	1.00[CEU][hapmap]
rs7054364	0.86[CEU][hapmap]
rs7062799	0.85[CEU][hapmap]
rs707298	1.00[CEU][hapmap]
rs707302	1.00[CEU][hapmap]
rs708966	1.00[CEU][hapmap]
rs708968	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs708969	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs760866	0.87[CEU][hapmap]
rs7891437	0.86[CEU][hapmap]
rs806537	0.92[CEU][hapmap]
rs806538	1.00[CEU][hapmap]
rs806607	0.86[CEU][hapmap]
rs806608	0.86[CEU][hapmap];0.82[YRI][hapmap]
rs806609	0.87[CEU][hapmap];0.91[YRI][hapmap]
rs806610	0.86[CEU][hapmap];0.86[YRI][hapmap]
rs809363	0.86[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	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	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
3	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
4	nsv870364	chrX:65459411-65504985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65460000-65486200	Weak transcription	Rectal Smooth Muscle	rectum
2	chrX:65468400-65480600	Weak transcription	Fetal Stomach	stomach
3	chrX:65469400-65488800	Weak transcription	Colon Smooth Muscle	Colon
4	chrX:65469600-65483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chrX:65471800-65485600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:65472000-65482000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chrX:65473200-65484800	Weak transcription	Small Intestine	intestine
8	chrX:65475000-65486000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chrX:65476800-65482000	Weak transcription	K562	blood
10	chrX:65476800-65488000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chrX:65477400-65480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chrX:65478000-65488400	Strong transcription	Fetal Intestine Large	intestine
13	chrX:65478400-65485600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chrX:65478600-65482600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chrX:65478600-65483600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chrX:65478800-65480800	Strong transcription	Stomach Smooth Muscle	stomach
17	chrX:65478800-65483200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:65478800-65488000	Weak transcription	Spleen	Spleen
19	chrX:65478800-65489000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chrX:65479000-65486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chrX:65479000-65486400	Weak transcription	Fetal Kidney	kidney
22	chrX:65479400-65486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chrX:65479600-65484200	Strong transcription	Duodenum Mucosa	Duodenum
24	chrX:65479800-65481000	Strong transcription	Fetal Intestine Small	intestine
25	chrX:65479800-65482400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chrX:65479800-65484600	Strong transcription	Ovary	ovary
27	chrX:65479800-65488000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chrX:65480000-65480400	Strong transcription	Aorta	Aorta
29	chrX:65480000-65480400	ZNF genes & repeats	Fetal Lung	lung
30	chrX:65480000-65480800	Strong transcription	Colonic Mucosa	Colon
31	chrX:65480000-65487600	Weak transcription	Fetal Heart	heart
32	chrX:65480000-65487800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chrX:65480200-65481200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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