Variant report

Variant	rs10930783
Chromosome Location	chr2:178178361-178178362
allele	G/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	chr2:178177310-178178579	K562	blood:	n/a	n/a
2	KAP1	chr2:178178175-178179271	HEK293	kidney:	n/a	n/a
3	KAP1	chr2:178178243-178179338	U2OS	brain:	n/a	n/a
4	POLR2A	chr2:178177553-178178734	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178177013..178178941-chr2:178181297..178183451,2	K562	blood:
2	chr2:178177109..178180632-chr2:178187493..178191533,6	K562	blood:

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000213963	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10175252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175660	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10184488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10187221	0.82[EUR][1000 genomes]
rs10187323	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs10190306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10198518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11681133	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12104688	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13002088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13017003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13017227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392350	1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394038	0.82[EUR][1000 genomes]
rs13410559	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs13426818	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429924	0.82[EUR][1000 genomes]
rs1374438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16865148	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16865163	0.82[EUR][1000 genomes]
rs16865187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1901823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2167902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2218575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2246448	0.89[ASN][1000 genomes]
rs2272529	1.00[JPT][hapmap]
rs2364733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602534	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602535	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2706142	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4130304	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4402804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4585065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893955	1.00[CHB][hapmap]
rs55848656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56174568	0.82[EUR][1000 genomes]
rs56181372	0.82[EUR][1000 genomes]
rs56806189	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57010642	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58583364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59549243	0.82[EUR][1000 genomes]
rs60703179	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6414095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6433666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6720934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6732250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6735504	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73035181	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73035188	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035190	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035193	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73039071	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73039075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73979713	0.82[EUR][1000 genomes]
rs73979718	0.82[EUR][1000 genomes]
rs73979722	0.82[EUR][1000 genomes]
rs73979724	0.82[EUR][1000 genomes]
rs73979728	0.82[EUR][1000 genomes]
rs7563082	0.82[ASN][1000 genomes]
rs7566319	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566974	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7570297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7575328	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7578962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581364	0.82[EUR][1000 genomes]
rs7585952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7594073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7601132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs935426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs935949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178146600-178180400	Weak transcription	Esophagus	oesophagus
2	chr2:178147800-178187000	Weak transcription	HSMM	muscle
3	chr2:178147800-178190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:178151400-178179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:178155800-178185200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:178160400-178187200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:178160800-178186000	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178160800-178196200	Weak transcription	Ovary	ovary
9	chr2:178165800-178187200	Weak transcription	Spleen	Spleen
10	chr2:178166600-178187000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:178167600-178187000	Weak transcription	Left Ventricle	heart
12	chr2:178168600-178178400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:178172400-178187200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:178173800-178179600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:178174200-178178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:178175200-178185000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:178175200-178187000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:178175400-178185200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:178175400-178186600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:178175600-178185200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:178175600-178191200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:178175600-178191600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:178175600-178191800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:178175800-178184600	Weak transcription	Primary T cells from cord blood	blood
26	chr2:178175800-178187000	Weak transcription	Dnd41	blood
27	chr2:178175800-178191000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:178176200-178191600	Weak transcription	Thymus	Thymus
29	chr2:178176400-178191400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:178177600-178178600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:178177600-178180400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:178177800-178179400	Enhancers	HepG2	liver
33	chr2:178177800-178179800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:178177800-178180400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:178177800-178180600	Enhancers	HMEC	breast
36	chr2:178177800-178180800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:178177800-178183600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:178178000-178179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:178178000-178180600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:178178000-178180600	Enhancers	NHEK	skin
41	chr2:178178000-178183200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:178178200-178178400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:178178200-178178600	Enhancers	Aorta	Aorta
44	chr2:178178200-178178600	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:178178200-178178600	Enhancers	Gastric	stomach
46	chr2:178178200-178178600	Enhancers	Right Atrium	heart
47	chr2:178178200-178178800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:178178200-178178800	Enhancers	Psoas Muscle	Psoas
49	chr2:178178200-178179200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:178178200-178179800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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