Variant report

Variant	rs1043044
Chromosome Location	chrX:54837340-54837341
allele	C/T
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	POLR2A	chrX:54837111-54837386	HepG2	liver:	n/a	n/a
2	POLR2A	chrX:54837332-54837390	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:54836915..54840513-chrX:54840777..54845146,5	K562	blood:
2	chrX:54835376..54839263-chrX:54839961..54843837,5	K562	blood:
3	chrX:54836601..54839243-chrX:54839526..54841397,2	MCF-7	breast:

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

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

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

rs_ID	r²[population]
rs1043031	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]
rs1043034	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];0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs12851962	0.94[CEU][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap]
rs12858090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12858147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2005463	0.83[CEU][hapmap];0.94[TSI][hapmap]
rs2071932	1.00[CEU][hapmap];1.00[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];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs2071934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2273138	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][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];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs4826364	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs4826365	0.84[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs5914241	0.94[CEU][hapmap];1.00[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];0.87[CHB][hapmap];0.90[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5960336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6611391	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743974	1.00[CEU][hapmap];0.94[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];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs763184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:54834000-54840600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
2	chrX:54835200-54843800	Weak transcription	Small Intestine	intestine
3	chrX:54835800-54850600	Weak transcription	Right Atrium	heart
4	chrX:54836000-54837800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:54836000-54844000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chrX:54836000-54847400	Weak transcription	Psoas Muscle	Psoas
7	chrX:54836200-54837400	Weak transcription	Primary T cells from cord blood	blood
8	chrX:54836200-54837400	Genic enhancers	Brain Anterior Caudate	brain
9	chrX:54836200-54837600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chrX:54836200-54837600	Enhancers	Stomach Mucosa	stomach
11	chrX:54836200-54837800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chrX:54836200-54838200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chrX:54836200-54838200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chrX:54836200-54839200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chrX:54836200-54842200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chrX:54836200-54843000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chrX:54836200-54843200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chrX:54836200-54843200	Strong transcription	Fetal Thymus	thymus
19	chrX:54836200-54850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chrX:54836400-54837400	Genic enhancers	Brain Angular Gyrus	brain
21	chrX:54836400-54838000	Genic enhancers	Fetal Stomach	stomach
22	chrX:54836400-54838800	Weak transcription	Esophagus	oesophagus
23	chrX:54836400-54841800	Strong transcription	Colon Smooth Muscle	Colon
24	chrX:54836400-54842200	Strong transcription	Aorta	Aorta
25	chrX:54836400-54842600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chrX:54836400-54842800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chrX:54836400-54843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chrX:54836400-54843200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chrX:54836400-54843200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chrX:54836400-54843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chrX:54836400-54843200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chrX:54836400-54844000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chrX:54836600-54837400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chrX:54836600-54837600	Genic enhancers	Placenta	Placenta
35	chrX:54836600-54837800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chrX:54836600-54837800	Strong transcription	Stomach Smooth Muscle	stomach
37	chrX:54836600-54838200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chrX:54836600-54838400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chrX:54836600-54838600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chrX:54836600-54838600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chrX:54836600-54838800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chrX:54836600-54839000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chrX:54836600-54839800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chrX:54836600-54841600	Weak transcription	K562	blood
45	chrX:54836600-54841800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chrX:54836600-54842000	Strong transcription	Brain Substantia Nigra	brain
47	chrX:54836600-54842200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chrX:54836600-54842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chrX:54836600-54842200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chrX:54836600-54842200	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links