Variant report

Variant	rs11545211
Chromosome Location	chrX:55479299-55479300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:55478272..55480275-chrX:55742945..55745674,2	MCF-7	breast:
2	chr3:145877632..145880246-chrX:55477813..55479806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction
ENSG00000083750	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1005612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12557467	0.82[CEU][hapmap];0.92[GIH][hapmap]
rs12688603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs17277280	0.82[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap]
rs2473057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs2499861	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3002630	0.92[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs3126255	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs5000659	0.82[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap]
rs6612287	0.85[CHB][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	esv3410436	chrX:55229677-55671986	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3494957	chrX:55328700-55585199	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3494958	chrX:55328757-55585154	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv469510	chrX:55463837-55570914	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482619	chrX:55463837-55570914	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55477400-55480000	Active TSS	Colonic Mucosa	Colon
2	chrX:55477600-55480000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chrX:55477800-55479400	Active TSS	A549	lung
4	chrX:55477800-55479600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chrX:55477800-55479800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chrX:55477800-55480000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chrX:55477800-55480000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:55477800-55480000	Active TSS	Brain Angular Gyrus	brain
9	chrX:55477800-55480000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chrX:55477800-55480000	Active TSS	Brain Substantia Nigra	brain
11	chrX:55477800-55480200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chrX:55477800-55480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chrX:55477800-55480200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chrX:55477800-55480200	Active TSS	Brain Cingulate Gyrus	brain
15	chrX:55477800-55480200	Active TSS	Fetal Intestine Small	intestine
16	chrX:55477800-55480200	Active TSS	GM12878-XiMat	blood
17	chrX:55478000-55479400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chrX:55478000-55479400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chrX:55478000-55479400	Active TSS	Pancreas	Pancrea
20	chrX:55478000-55479400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chrX:55478000-55479400	Active TSS	NHEK	skin
22	chrX:55478000-55479600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chrX:55478000-55479600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chrX:55478000-55479600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chrX:55478000-55479600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chrX:55478000-55479600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chrX:55478000-55479600	Active TSS	Esophagus	oesophagus
28	chrX:55478000-55479600	Active TSS	Left Ventricle	heart
29	chrX:55478000-55479600	Active TSS	Lung	lung
30	chrX:55478000-55479600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chrX:55478000-55479600	Active TSS	Rectal Smooth Muscle	rectum
32	chrX:55478000-55479600	Active TSS	Right Ventricle	heart
33	chrX:55478000-55479600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chrX:55478000-55479600	Active TSS	HMEC	breast
35	chrX:55478000-55479800	Active TSS	H1 Cell Line	embryonic stem cell
36	chrX:55478000-55479800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chrX:55478000-55479800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chrX:55478000-55479800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chrX:55478000-55479800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chrX:55478000-55479800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chrX:55478000-55479800	Active TSS	Duodenum Mucosa	Duodenum
42	chrX:55478000-55479800	Active TSS	Stomach Smooth Muscle	stomach
43	chrX:55478000-55479800	Active TSS	HSMM	muscle
44	chrX:55478000-55480000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chrX:55478000-55480000	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chrX:55478000-55480000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chrX:55478000-55480000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chrX:55478000-55480000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chrX:55478000-55480000	Active TSS	Colon Smooth Muscle	Colon
50	chrX:55478000-55480000	Active TSS	Duodenum Smooth Muscle	Duodenum

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