Variant report

Variant	rs1043031
Chromosome Location	chrX:54836361-54836362
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	MXI1	chrX:54834460-54836368	IMR90	lung:	n/a	n/a
2	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
MAGED2	TF binding region
SNORA11	TF binding region
ENSG00000221716	Chromatin interaction
ENSG00000102316	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1043034	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];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs12014660	0.84[CEU][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.97[TSI][hapmap]
rs12851962	0.94[CEU][hapmap];0.80[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];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs2071932	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs2071933	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.96[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	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs2281383	0.94[CEU][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs2361189	1.00[CEU][hapmap]
rs3765479	0.94[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs4826364	0.84[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.97[TSI][hapmap]
rs4826365	0.83[CEU][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];0.97[TSI][hapmap]
rs5914241	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][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];0.96[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs763183	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[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:54833800-54836400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chrX:54834000-54836400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:54834000-54836400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chrX:54834000-54836400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chrX:54834000-54836400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chrX:54834000-54836400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chrX:54834000-54836400	Active TSS	HSMM	muscle
8	chrX:54834000-54836600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chrX:54834000-54836800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chrX:54834000-54837000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chrX:54834000-54837200	Active TSS	Muscle Satellite Cultured Cells	--
12	chrX:54834000-54837200	Active TSS	NHLF	lung
13	chrX:54834000-54840600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chrX:54834200-54836400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chrX:54834200-54836600	Active TSS	K562	blood
16	chrX:54834200-54836800	Active TSS	NH-A	brain
17	chrX:54834200-54837000	Active TSS	HMEC	breast
18	chrX:54834200-54837200	Active TSS	NHDF-Ad	bronchial
19	chrX:54834400-54836400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:54834400-54836400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chrX:54834400-54836400	Active TSS	Rectal Smooth Muscle	rectum
22	chrX:54834400-54836800	Active TSS	Osteobl	bone
23	chrX:54835000-54836400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chrX:54835200-54837000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chrX:54835200-54843800	Weak transcription	Small Intestine	intestine
26	chrX:54835600-54836400	Flanking Active TSS	Placenta	Placenta
27	chrX:54835600-54836400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
28	chrX:54835600-54836600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chrX:54835600-54836600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
30	chrX:54835600-54836800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
31	chrX:54835600-54836800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
32	chrX:54835600-54837000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
33	chrX:54835800-54836400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:54835800-54836400	Enhancers	Primary B cells from cord blood	blood
35	chrX:54835800-54836400	Flanking Active TSS	Brain Angular Gyrus	brain
36	chrX:54835800-54836400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chrX:54835800-54836400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
38	chrX:54835800-54836400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chrX:54835800-54836400	Flanking Active TSS	Dnd41	blood
40	chrX:54835800-54836600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chrX:54835800-54836600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
42	chrX:54835800-54836600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
43	chrX:54835800-54836600	Enhancers	Lung	lung
44	chrX:54835800-54836600	Genic enhancers	Spleen	Spleen
45	chrX:54835800-54837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chrX:54835800-54850600	Weak transcription	Right Atrium	heart
47	chrX:54836000-54836400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
48	chrX:54836000-54836400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chrX:54836000-54836400	Weak transcription	Aorta	Aorta
50	chrX:54836000-54836400	Enhancers	Brain Substantia Nigra	brain

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