Variant report

Variant	rs1318846
Chromosome Location	chrX:74521594-74521595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:74521044..74522669-chrX:74524864..74527792,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1017681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1017682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12008941	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12156864	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12861282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs1353592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1874557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1936914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1936918	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs1936919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1936923	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1998492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs1998493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs1998494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs2146767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2209045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs2209046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs2209052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs2224753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs2224754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs2367108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2367165	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2367177	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs2367178	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs3850144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4892404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs4892579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4892583	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4892587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs4892588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs5937370	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938009	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938014	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938015	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938047	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5938053	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs5938054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs5938065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938069	1.00[CHB][hapmap]
rs5938070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5938079	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5981343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5981358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5981362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs5981831	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5981834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6647105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap]
rs6647123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs6647687	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6647741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6647747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7885952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7886499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13841	chrX:74461978-74657064	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532360	chrX:74462926-74651249	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1067730	chrX:74463757-74592761	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv532879	chrX:74463757-74592761	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916109	chrX:74463757-74651249	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74495200-74528800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chrX:74495800-74527800	Weak transcription	Thymus	Thymus
3	chrX:74504600-74547600	Weak transcription	Brain Hippocampus Middle	brain
4	chrX:74505000-74523800	Weak transcription	Left Ventricle	heart
5	chrX:74505200-74532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chrX:74508200-74527200	Weak transcription	Fetal Lung	lung
7	chrX:74511800-74526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chrX:74512000-74553000	Weak transcription	Primary B cells from cord blood	blood
9	chrX:74512800-74539400	Weak transcription	Primary B cells from peripheral blood	blood
10	chrX:74513800-74539600	Weak transcription	GM12878-XiMat	blood
11	chrX:74514400-74533200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chrX:74514600-74549600	Weak transcription	Psoas Muscle	Psoas
13	chrX:74515200-74529200	Weak transcription	Small Intestine	intestine
14	chrX:74515200-74539400	Weak transcription	Primary T cells from cord blood	blood
15	chrX:74515400-74539800	Weak transcription	HSMMtube	muscle
16	chrX:74515800-74538600	Weak transcription	Spleen	Spleen
17	chrX:74515800-74539000	Weak transcription	Fetal Muscle Leg	muscle
18	chrX:74516000-74522800	Weak transcription	Fetal Muscle Trunk	muscle
19	chrX:74516000-74526200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chrX:74516000-74526400	Weak transcription	Fetal Stomach	stomach
21	chrX:74516000-74538600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chrX:74516000-74539000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chrX:74516000-74539400	Weak transcription	Stomach Smooth Muscle	stomach
24	chrX:74516200-74526400	Weak transcription	Fetal Intestine Small	intestine
25	chrX:74516200-74528200	Weak transcription	Esophagus	oesophagus
26	chrX:74516200-74529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chrX:74516200-74538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chrX:74516200-74538800	Weak transcription	Ovary	ovary
29	chrX:74516200-74540000	Weak transcription	Pancreas	Pancrea
30	chrX:74516400-74523000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chrX:74516800-74528200	Weak transcription	Fetal Thymus	thymus
32	chrX:74516800-74536600	Weak transcription	Brain Germinal Matrix	brain
33	chrX:74517000-74523600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:74517000-74526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chrX:74517200-74524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chrX:74517200-74526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chrX:74517200-74554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chrX:74517400-74523200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chrX:74517400-74528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chrX:74518000-74527000	Weak transcription	Brain Anterior Caudate	brain
41	chrX:74518000-74539400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chrX:74518200-74539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chrX:74518400-74527600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chrX:74518600-74521800	Strong transcription	Liver	Liver
45	chrX:74518600-74538600	Weak transcription	Brain Angular Gyrus	brain
46	chrX:74518800-74524400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chrX:74519400-74524000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chrX:74519400-74526400	Weak transcription	Primary hematopoietic stem cells	blood
49	chrX:74519400-74538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chrX:74519600-74521800	Strong transcription	Monocytes-CD14+_RO01746	blood

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