Variant report

Variant	rs1043034
Chromosome Location	chrX:54836505-54836506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chrX:54836409-54836583	HepG2	liver:	n/a	n/a
2	ELK1	chrX:54836391-54836522	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chrX:54834779-54836869	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:54835376..54839263-chrX:54839961..54843837,5	K562	blood:
2	chrX:54835451..54837297-chrX:54837694..54840450,2	K562	blood:

Variant related genes	Relation type
SNORA11	TF binding region
MAGED2	TF binding region
ENSG00000221716	Chromatin interaction
ENSG00000102316	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs1043044	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12014660	0.84[CEU][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap]
rs12832165	0.80[CEU][hapmap]
rs12851962	0.94[CEU][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap]
rs12858090	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12858147	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2005463	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs2071932	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs2071933	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs2071934	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2273138	0.85[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs2281383	0.94[CEU][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap]
rs2361189	1.00[CEU][hapmap]
rs3765479	0.94[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs4826364	0.84[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap]
rs4826365	0.84[CEU][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap]
rs5914241	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5960055	0.94[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5960336	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6611391	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs743974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap]
rs763183	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs763184	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:54834000-54836600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chrX:54834000-54836800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chrX:54834000-54837000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chrX:54834000-54837200	Active TSS	Muscle Satellite Cultured Cells	--
5	chrX:54834000-54837200	Active TSS	NHLF	lung
6	chrX:54834000-54840600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chrX:54834200-54836600	Active TSS	K562	blood
8	chrX:54834200-54836800	Active TSS	NH-A	brain
9	chrX:54834200-54837000	Active TSS	HMEC	breast
10	chrX:54834200-54837200	Active TSS	NHDF-Ad	bronchial
11	chrX:54834400-54836800	Active TSS	Osteobl	bone
12	chrX:54835200-54837000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chrX:54835200-54843800	Weak transcription	Small Intestine	intestine
14	chrX:54835600-54836600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:54835600-54836600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
16	chrX:54835600-54836800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
17	chrX:54835600-54836800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
18	chrX:54835600-54837000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chrX:54835800-54836600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chrX:54835800-54836600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chrX:54835800-54836600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
22	chrX:54835800-54836600	Enhancers	Lung	lung
23	chrX:54835800-54836600	Genic enhancers	Spleen	Spleen
24	chrX:54835800-54837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chrX:54835800-54850600	Weak transcription	Right Atrium	heart
26	chrX:54836000-54836600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
27	chrX:54836000-54836600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chrX:54836000-54836600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chrX:54836000-54836600	Enhancers	Primary T cells fromperipheralblood	blood
30	chrX:54836000-54836600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chrX:54836000-54836600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chrX:54836000-54836600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chrX:54836000-54836600	Enhancers	Liver	Liver
34	chrX:54836000-54836600	Genic enhancers	Fetal Lung	lung
35	chrX:54836000-54836600	Enhancers	Pancreas	Pancrea
36	chrX:54836000-54836600	Flanking Active TSS	A549	lung
37	chrX:54836000-54836800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chrX:54836000-54836800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chrX:54836000-54836800	Active TSS	Colonic Mucosa	Colon
40	chrX:54836000-54836800	Flanking Active TSS	Hela-S3	cervix
41	chrX:54836000-54836800	Active TSS	HepG2	liver
42	chrX:54836000-54836800	Transcr. at gene 5' and 3'	HSMMtube	muscle
43	chrX:54836000-54837000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chrX:54836000-54837200	Weak transcription	Primary hematopoietic stem cells	blood
45	chrX:54836000-54837200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chrX:54836000-54837200	Genic enhancers	Gastric	stomach
47	chrX:54836000-54837800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chrX:54836000-54844000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chrX:54836000-54847400	Weak transcription	Psoas Muscle	Psoas
50	chrX:54836200-54836600	Weak transcription	Primary B cells from peripheral blood	blood

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