Variant report

Variant	rs10991
Chromosome Location	chrX:77385748-77385749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:77358367..77363435-chrX:77383369..77389785,7	K562	blood:
2	chr11:62608697..62609433-chrX:77385462..77386416,2	Hela-S3	cervix:
3	chr16:10712977..10713728-chrX:77385414..77386273,2	Hela-S3	cervix:
4	chrX:77375184..77378184-chrX:77380866..77385880,4	K562	blood:
5	chrX:77385692..77388745-chrX:77389370..77394075,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000102144	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs167674	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs17139585	0.82[CHD][hapmap];0.81[MKK][hapmap]
rs2073176	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap]
rs2073178	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs2643581	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs320988	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs320990	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs320992	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap]
rs320995	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap]
rs320996	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs320999	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs321005	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs321029	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs321073	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs321074	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs321085	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs321086	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs321088	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs321090	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs321091	0.94[JPT][hapmap]
rs321094	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs321095	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs428207	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4826248	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529299	chrX:77040316-77947157	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv532880	chrX:77085352-77769755	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77361800-77394400	Weak transcription	Fetal Brain Male	brain
2	chrX:77362200-77394200	Weak transcription	Fetal Brain Female	brain
3	chrX:77362200-77394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chrX:77365200-77386000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:77365200-77386200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chrX:77365200-77389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chrX:77365600-77389000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chrX:77365600-77394200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chrX:77366000-77385800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chrX:77367200-77386000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chrX:77367200-77386600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chrX:77367200-77390200	Strong transcription	A549	lung
13	chrX:77367200-77390400	Strong transcription	Adipose Nuclei	Adipose
14	chrX:77367200-77394400	Weak transcription	Psoas Muscle	Psoas
15	chrX:77368800-77390200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chrX:77369600-77394400	Weak transcription	Right Ventricle	heart
17	chrX:77370600-77389200	Strong transcription	Liver	Liver
18	chrX:77370800-77386800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chrX:77372200-77385800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chrX:77372400-77386600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chrX:77372600-77386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chrX:77373000-77386400	Strong transcription	Fetal Intestine Large	intestine
23	chrX:77373200-77387800	Weak transcription	Fetal Heart	heart
24	chrX:77374600-77386400	Strong transcription	Duodenum Mucosa	Duodenum
25	chrX:77374600-77394600	Weak transcription	Esophagus	oesophagus
26	chrX:77375200-77394000	Weak transcription	Pancreas	Pancrea
27	chrX:77375200-77394600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chrX:77375400-77385800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chrX:77375400-77394200	Weak transcription	NHLF	lung
30	chrX:77375600-77386800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chrX:77376200-77386400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chrX:77376600-77385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chrX:77377400-77389000	Strong transcription	Dnd41	blood
34	chrX:77377400-77394000	Weak transcription	Brain Germinal Matrix	brain
35	chrX:77378400-77388200	Weak transcription	Fetal Kidney	kidney
36	chrX:77378800-77387400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chrX:77379000-77386000	Weak transcription	NHDF-Ad	bronchial
38	chrX:77379000-77386400	Strong transcription	HMEC	breast
39	chrX:77379000-77394200	Weak transcription	Primary B cells from cord blood	blood
40	chrX:77379000-77394400	Weak transcription	Ovary	ovary
41	chrX:77379200-77394400	Weak transcription	NHEK	skin
42	chrX:77380400-77387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chrX:77380800-77394400	Weak transcription	Brain Cingulate Gyrus	brain
44	chrX:77381000-77394000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chrX:77381000-77394000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chrX:77381000-77394400	Weak transcription	Colonic Mucosa	Colon
47	chrX:77381000-77394600	Weak transcription	Lung	lung
48	chrX:77381200-77388000	Weak transcription	Brain Hippocampus Middle	brain
49	chrX:77381200-77394400	Weak transcription	Brain Angular Gyrus	brain
50	chrX:77381200-77394400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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