Variant report

Variant	rs2054179
Chromosome Location	chrX:65484820-65484821
allele	C/T
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]
rs2198868	1.00[CEU][hapmap]
rs2198869	1.00[CEU][hapmap]
rs2206203	0.86[CEU][hapmap]
rs4827365	1.00[CEU][hapmap];1.00[YRI][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:35 , 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:65469400-65488800	Weak transcription	Colon Smooth Muscle	Colon
3	chrX:65471800-65485600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:65475000-65486000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:65476800-65488000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chrX:65478000-65488400	Strong transcription	Fetal Intestine Large	intestine
7	chrX:65478400-65485600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:65478800-65488000	Weak transcription	Spleen	Spleen
9	chrX:65478800-65489000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chrX:65479000-65486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chrX:65479000-65486400	Weak transcription	Fetal Kidney	kidney
12	chrX:65479400-65486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chrX:65479800-65488000	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chrX:65480000-65487600	Weak transcription	Fetal Heart	heart
15	chrX:65480000-65487800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chrX:65480400-65486200	Weak transcription	Aorta	Aorta
17	chrX:65480400-65486400	Weak transcription	Fetal Lung	lung
18	chrX:65480600-65488200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:65481000-65486200	Weak transcription	Fetal Intestine Small	intestine
20	chrX:65481000-65486400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chrX:65481200-65488400	Weak transcription	Fetal Stomach	stomach
22	chrX:65482000-65485200	Strong transcription	K562	blood
23	chrX:65482200-65489800	Weak transcription	Left Ventricle	heart
24	chrX:65482400-65485400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chrX:65483400-65486000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chrX:65483400-65486400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chrX:65483800-65486200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chrX:65483800-65486200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chrX:65484000-65485600	Weak transcription	Stomach Smooth Muscle	stomach
30	chrX:65484000-65488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chrX:65484400-65485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chrX:65484400-65486000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chrX:65484400-65486200	Weak transcription	Colonic Mucosa	Colon
34	chrX:65484600-65486200	Weak transcription	Ovary	ovary
35	chrX:65484800-65488600	Strong transcription	Duodenum Mucosa	Duodenum

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