Variant report

Variant	rs9373248
Chromosome Location	chr6:140081302-140081303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140078058..140080357-chr6:140080533..140082586,2	K562	blood:
2	chr6:140081301..140083675-chr6:140083815..140085974,2	MCF-7	breast:
3	chr6:139694366..139696950-chr6:140079710..140081435,3	MCF-7	breast:
4	chr6:139695523..139697647-chr6:140080550..140082396,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10499213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499214	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11962730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963532	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12055436	0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12055472	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12055843	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12662206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069206	0.86[JPT][hapmap]
rs17069225	0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1936210	0.89[ASN][1000 genomes]
rs1936214	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2096283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2185923	0.88[ASN][1000 genomes]
rs2327993	0.88[ASN][1000 genomes]
rs4520026	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4535566	0.86[ASN][1000 genomes]
rs55764205	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs55966840	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60350063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60758082	0.88[ASN][1000 genomes]
rs6570372	0.89[ASN][1000 genomes]
rs6570373	0.90[ASN][1000 genomes]
rs6570374	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6901783	0.93[JPT][hapmap]
rs6905478	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6933318	0.93[JPT][hapmap]
rs73556090	0.88[ASN][1000 genomes]
rs73558032	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743796	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7752001	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7752323	0.89[ASN][1000 genomes]
rs7756866	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7769567	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7774968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9321752	0.88[ASN][1000 genomes]
rs9373246	0.83[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs9373247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376452	0.86[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs9376457	0.89[ASN][1000 genomes]
rs9376466	0.81[EUR][1000 genomes]
rs9385874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9385875	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9385876	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9389715	0.89[ASN][1000 genomes]
rs9389717	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9399292	0.86[JPT][hapmap]
rs9403113	0.88[ASN][1000 genomes]
rs9403114	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9403115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9403116	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv464065	chr6:140027836-140085873	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604766	chr6:140027836-140085873	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140070200-140085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:140073000-140089400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:140075000-140083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:140075000-140085400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:140075200-140083800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:140076000-140085200	Weak transcription	Left Ventricle	heart
7	chr6:140076400-140081800	Weak transcription	Right Atrium	heart
8	chr6:140076400-140082200	Weak transcription	K562	blood
9	chr6:140076400-140085000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:140076400-140085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:140076800-140081800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:140076800-140083200	Weak transcription	Fetal Lung	lung
13	chr6:140076800-140083400	Weak transcription	HSMMtube	muscle
14	chr6:140076800-140085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:140076800-140085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:140077000-140083400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:140077000-140085000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:140077000-140085800	Weak transcription	Fetal Kidney	kidney
19	chr6:140077200-140085000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:140077400-140085800	Weak transcription	Pancreas	Pancrea
21	chr6:140078000-140082000	Enhancers	Adipose Nuclei	Adipose
22	chr6:140078200-140083600	Weak transcription	HUVEC	blood vessel
23	chr6:140079000-140081800	Weak transcription	Psoas Muscle	Psoas
24	chr6:140079400-140083600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:140079400-140085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:140079600-140081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:140079600-140083200	Weak transcription	Fetal Heart	heart
28	chr6:140079600-140083200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:140079600-140083800	Weak transcription	NHLF	lung
30	chr6:140079600-140085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:140079600-140085400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:140079800-140083000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:140079800-140083200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:140079800-140083200	Weak transcription	NHDF-Ad	bronchial
35	chr6:140079800-140083400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:140079800-140084000	Weak transcription	A549	lung
37	chr6:140079800-140085000	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:140079800-140090400	Weak transcription	Aorta	Aorta
39	chr6:140080000-140082000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:140080000-140083200	Weak transcription	HSMM	muscle
41	chr6:140080000-140083400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:140080000-140083600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:140080200-140083200	Weak transcription	Osteobl	bone
44	chr6:140080800-140083800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:140081000-140081400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:140081000-140081400	Enhancers	Ovary	ovary
47	chr6:140081200-140082400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:140081200-140085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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