Variant report

Variant	rs2071933
Chromosome Location	chrX:54838352-54838353
allele	A/C
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:54837475-54838387	HepG2	liver:	n/a	n/a
2	POLR2A	chrX:54838191-54838634	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:54835451..54837297-chrX:54837694..54840450,2	K562	blood:
2	chrX:54836915..54840513-chrX:54840777..54845146,5	K562	blood:
3	chrX:54835376..54839263-chrX:54839961..54843837,5	K562	blood:
4	chrX:54836601..54839243-chrX:54839526..54841397,2	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1043031	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]
rs1043034	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]
rs1043044	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]
rs12014660	0.84[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][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];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12858147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2005463	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs2071932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs2071934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2273138	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[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];0.86[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs4826364	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs4826365	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs5914241	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5960055	0.94[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[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];0.93[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap]
rs763183	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]
rs763184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2071933	TRO	cis	lymphoblastoid	seeQTL
rs2071933	TRO	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 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:54836000-54844000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chrX:54836000-54847400	Weak transcription	Psoas Muscle	Psoas
6	chrX:54836200-54839200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chrX:54836200-54842200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chrX:54836200-54843000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chrX:54836200-54843200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chrX:54836200-54843200	Strong transcription	Fetal Thymus	thymus
11	chrX:54836200-54850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chrX:54836400-54838800	Weak transcription	Esophagus	oesophagus
13	chrX:54836400-54841800	Strong transcription	Colon Smooth Muscle	Colon
14	chrX:54836400-54842200	Strong transcription	Aorta	Aorta
15	chrX:54836400-54842600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chrX:54836400-54842800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chrX:54836400-54843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chrX:54836400-54843200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chrX:54836400-54843200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chrX:54836400-54843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:54836400-54843200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chrX:54836400-54844000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chrX:54836600-54838400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chrX:54836600-54838600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chrX:54836600-54838600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chrX:54836600-54838800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chrX:54836600-54839000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chrX:54836600-54839800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chrX:54836600-54841600	Weak transcription	K562	blood
30	chrX:54836600-54841800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chrX:54836600-54842000	Strong transcription	Brain Substantia Nigra	brain
32	chrX:54836600-54842200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chrX:54836600-54842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chrX:54836600-54842200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chrX:54836600-54842200	Strong transcription	Fetal Intestine Small	intestine
36	chrX:54836600-54842400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:54836600-54842600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chrX:54836600-54842800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chrX:54836600-54842800	Strong transcription	Left Ventricle	heart
40	chrX:54836600-54842800	Strong transcription	Right Ventricle	heart
41	chrX:54836600-54843000	Strong transcription	Primary B cells from peripheral blood	blood
42	chrX:54836600-54843000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chrX:54836600-54843200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chrX:54836600-54843200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chrX:54836600-54843200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chrX:54836600-54843200	Strong transcription	Fetal Lung	lung
47	chrX:54836600-54843200	Strong transcription	Spleen	Spleen
48	chrX:54836600-54843400	Strong transcription	Fetal Intestine Large	intestine
49	chrX:54836800-54838800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chrX:54836800-54839000	Genic enhancers	Fetal Muscle Leg	muscle

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