Variant report

Variant	rs1973482
Chromosome Location	chr6:74512154-74512155
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74511500..74515522-chr6:74517572..74520976,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10455097	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10805980	0.91[EUR][1000 genomes]
rs10943126	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs10943130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10943131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11757360	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12209909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660627	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12663597	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12663978	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1973483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351311	0.92[CEU][hapmap]
rs4706554	0.91[CHB][hapmap]
rs4708084	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708087	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453696	0.83[EUR][1000 genomes]
rs6903575	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6907989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6908109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6909201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6918540	0.85[EUR][1000 genomes]
rs6924739	0.84[CEU][hapmap]
rs6925924	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939653	0.90[CHB][hapmap]
rs71309314	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7745364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749499	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7751343	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7751523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7751558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7751669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7751758	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7762920	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7763030	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763254	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769064	0.86[EUR][1000 genomes]
rs7772434	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7773872	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7775539	0.91[CHB][hapmap]
rs9293942	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9293944	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343072	0.83[EUR][1000 genomes]
rs9343075	0.84[EUR][1000 genomes]
rs9343078	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs9350507	0.84[EUR][1000 genomes]
rs9442968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9447004	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9447013	0.82[EUR][1000 genomes]
rs9447030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs997765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs997767	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74477400-74543400	Weak transcription	Lung	lung
5	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
6	chr6:74484800-74512600	Weak transcription	HSMM	muscle
7	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
8	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
10	chr6:74496800-74528800	Weak transcription	Dnd41	blood
11	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
12	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:74499200-74520200	Weak transcription	NHEK	skin
14	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
21	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:74503600-74520800	Weak transcription	Adipose Nuclei	Adipose
23	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:74506200-74513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:74508600-74513600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:74508600-74514000	Weak transcription	HMEC	breast
27	chr6:74508600-74516400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:74508600-74533000	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:74508800-74512600	Weak transcription	Hela-S3	cervix
30	chr6:74508800-74512600	Weak transcription	NH-A	brain
31	chr6:74509000-74516600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:74509800-74513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:74510000-74512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:74510000-74513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:74510000-74513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:74510000-74513600	Weak transcription	Placenta	Placenta
37	chr6:74510200-74512400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:74510200-74514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:74510400-74512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:74510600-74514200	Enhancers	Liver	Liver
41	chr6:74510600-74514400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:74510800-74514000	Enhancers	A549	lung
43	chr6:74510800-74514200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:74510800-74514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:74511000-74512600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:74511000-74527200	Weak transcription	Fetal Lung	lung
47	chr6:74511200-74512600	Weak transcription	HUVEC	blood vessel
48	chr6:74511200-74512800	Enhancers	NHDF-Ad	bronchial
49	chr6:74511400-74514400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:74511600-74514400	Enhancers	Osteobl	bone

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