Variant report

Variant	rs6746113
Chromosome Location	chr2:178192560-178192561
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr2:178192548-178193280	K562	blood:	n/a	n/a
2	GATA1	chr2:178192558-178193793	PBDE	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127296..178131076-chr2:178188144..178194179,6	MCF-7	breast:
2	chr2:178129430..178133287-chr2:178190685..178195050,5	K562	blood:
3	chr2:178092578..178094284-chr2:178190511..178193072,2	K562	blood:
4	chr2:178118014..178120377-chr2:178191439..178193485,2	K562	blood:
5	chr2:178187336..178189064-chr2:178191251..178194155,2	K562	blood:
6	chr2:178135429..178137464-chr2:178191123..178193752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213963	TF binding region
ENSG00000225808	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10166244	0.81[ASN][1000 genomes]
rs10175252	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10175660	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10175662	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10176950	0.81[ASN][1000 genomes]
rs10179975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10184488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10187221	0.82[EUR][1000 genomes]
rs10187323	0.82[EUR][1000 genomes]
rs10190306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10198518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10207495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10207932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
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]
rs10930783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
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];0.81[ASN][1000 genomes]
rs11692099	0.81[ASN][1000 genomes]
rs11692146	0.81[ASN][1000 genomes]
rs12104688	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12987686	0.81[ASN][1000 genomes]
rs13002088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13011915	0.81[ASN][1000 genomes]
rs13017003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13017227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13392350	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13394038	1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs13426818	1.00[EUR][1000 genomes];0.95[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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1453375	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16865148	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16865163	1.00[GIH][hapmap];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]
rs16865322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1867905	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	0.84[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];0.81[ASN][1000 genomes]
rs2364851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602534	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602535	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2706142	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2706159	0.90[GIH][hapmap]
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];0.81[ASN][1000 genomes]
rs4243389	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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56174568	0.82[EUR][1000 genomes]
rs56181372	0.82[EUR][1000 genomes]
rs56806189	1.00[EUR][1000 genomes]
rs57010642	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58583364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59549243	0.82[EUR][1000 genomes]
rs60703179	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6414095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6433660	1.00[GIH][hapmap]
rs6433666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6720934	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6720970	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6740092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744247	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73035181	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73035188	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73035190	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73035193	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73039071	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73039075	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
rs7566319	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566974	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7570297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7575328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7578962	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7581364	0.82[EUR][1000 genomes]
rs7585952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588049	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];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7604668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178160800-178196200	Weak transcription	Ovary	ovary
2	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178179200-178196600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:178179800-178196800	Weak transcription	Fetal Brain Female	brain
5	chr2:178179800-178196800	Weak transcription	Osteobl	bone
6	chr2:178180400-178196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:178180800-178196400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:178182400-178196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:178182800-178196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178184000-178196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:178184400-178196600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:178184800-178196800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:178185600-178192600	Weak transcription	Right Ventricle	heart
14	chr2:178187000-178192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:178187000-178194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:178187200-178193000	Enhancers	Stomach Mucosa	stomach
17	chr2:178187400-178196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:178187400-178196800	Weak transcription	Esophagus	oesophagus
19	chr2:178187600-178193200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:178187600-178195000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:178187600-178196400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:178187600-178196800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:178187800-178192600	Weak transcription	Spleen	Spleen
25	chr2:178187800-178196600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:178187800-178196600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:178187800-178196600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:178187800-178196600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:178187800-178196800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
31	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:178188000-178192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:178188000-178193400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:178188000-178194400	Weak transcription	Gastric	stomach
35	chr2:178188000-178196400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:178188000-178196400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:178188000-178196600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:178188000-178196600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:178188000-178196600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:178188000-178196800	Weak transcription	Primary B cells from cord blood	blood
41	chr2:178188000-178196800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:178188000-178196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:178188000-178196800	Weak transcription	Fetal Stomach	stomach
44	chr2:178188000-178196800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:178188200-178196400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:178188200-178196600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:178189400-178192800	Enhancers	Placenta	Placenta
48	chr2:178190400-178193200	Enhancers	NHEK	skin
49	chr2:178190400-178194000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial

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