Variant report

Variant	rs6720970
Chromosome Location	chr2:178179208-178179209
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	chr2:178178804-178179210	K562	blood:	n/a	n/a
2	STAT3	chr2:178179015-178179238	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:178178945-178179260	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr2:178178981-178179282	Hela-S3	cervix:	n/a	n/a
5	ARID3A	chr2:178179005-178179224	K562	blood:	n/a	n/a
6	MAFK	chr2:178179007-178179225	HepG2	liver:	n/a	chr2:178179096-178179111
7	FOS	chr2:178178937-178179270	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr2:178178991-178179290	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:178178975-178179315	IMR90	lung:	n/a	n/a
10	MAFK	chr2:178178912-178179282	IMR90	lung:	n/a	chr2:178179096-178179111
11	STAT3	chr2:178179060-178179214	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr2:178178953-178179303	Hela-S3	cervix:	n/a	n/a
13	FOS	chr2:178178940-178179257	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr2:178178175-178179271	HEK293	kidney:	n/a	n/a
15	KAP1	chr2:178178243-178179338	U2OS	brain:	n/a	n/a
16	FOS	chr2:178178938-178179284	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr2:178179203-178179370	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr2:178179110-178179289	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFK	chr2:178178939-178179279	Hela-S3	cervix:	n/a	chr2:178179096-178179111
20	FOS	chr2:178178991-178179260	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178179058..178181036-chr2:178187493..178189731,3	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: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10175252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187221	0.82[EUR][1000 genomes]
rs10187323	0.82[EUR][1000 genomes]
rs10198518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104688	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13392350	0.96[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[AFR][1000 genomes]
rs13426818	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429924	0.82[EUR][1000 genomes]
rs1453374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865143	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16865148	1.00[ASN][1000 genomes]
rs16865163	0.82[EUR][1000 genomes]
rs2246448	0.89[ASN][1000 genomes]
rs2602534	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602535	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2706142	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55848656	0.98[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	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57010642	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58583364	1.00[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	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6414095	0.82[ASN][1000 genomes]
rs6720934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724177	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744247	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746113	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73035181	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73035188	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035190	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035193	0.89[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	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7578962	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581364	0.82[EUR][1000 genomes]
rs7602451	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs935948	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs935949	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:70 , 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	chr2:178172400-178187200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:178173800-178179600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178175200-178185000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:178175200-178187000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:178175400-178185200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:178175400-178186600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:178175600-178185200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:178175600-178191200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:178175600-178191600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:178175600-178191800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:178175800-178184600	Weak transcription	Primary T cells from cord blood	blood
24	chr2:178175800-178187000	Weak transcription	Dnd41	blood
25	chr2:178175800-178191000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:178176200-178191600	Weak transcription	Thymus	Thymus
27	chr2:178176400-178191400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:178177600-178180400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:178177800-178179400	Enhancers	HepG2	liver
30	chr2:178177800-178179800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:178177800-178180400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:178177800-178180600	Enhancers	HMEC	breast
33	chr2:178177800-178180800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:178177800-178183600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:178178000-178179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:178178000-178180600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:178178000-178180600	Enhancers	NHEK	skin
38	chr2:178178000-178183200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:178178200-178179800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:178178200-178179800	Enhancers	Osteobl	bone
41	chr2:178178200-178180000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:178178200-178180600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:178178200-178180600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:178178400-178179400	Enhancers	Fetal Intestine Small	intestine
45	chr2:178178400-178179800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:178178400-178179800	Enhancers	Hela-S3	cervix
47	chr2:178178400-178179800	Enhancers	K562	blood
48	chr2:178178400-178180400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:178178400-178180600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:178178400-178180600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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