Variant report

Variant	rs62396384
Chromosome Location	chr6:38657728-38657729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38656830..38658689-chr6:38669303..38670813,2	MCF-7	breast:
2	chr6:38656860..38659853-chr6:38666153..38668324,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1616723	0.91[ASN][1000 genomes]
rs1781716	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455773	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2894415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2894416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778443	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62396382	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62396385	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9791292	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:38641600-38668000	Weak transcription	NHLF	lung
3	chr6:38642400-38660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:38642400-38665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:38642800-38658000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:38642800-38669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:38646000-38670000	Weak transcription	A549	lung
8	chr6:38646600-38663400	Weak transcription	Esophagus	oesophagus
9	chr6:38646800-38668200	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38647200-38659000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:38648800-38669800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:38650200-38663400	Weak transcription	HUVEC	blood vessel
13	chr6:38650200-38666600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:38650800-38666400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:38651000-38667800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:38651200-38665800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:38651200-38667800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:38651200-38668000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:38651200-38668000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:38651200-38669800	Weak transcription	HSMM	muscle
21	chr6:38651200-38670000	Weak transcription	Fetal Kidney	kidney
22	chr6:38651400-38659000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:38651400-38669400	Weak transcription	Osteobl	bone
24	chr6:38652000-38666600	Weak transcription	Fetal Intestine Small	intestine
25	chr6:38652000-38668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:38652200-38662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:38652400-38668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:38653000-38668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:38653000-38670000	Weak transcription	NHDF-Ad	bronchial
30	chr6:38653600-38663200	Weak transcription	HMEC	breast
31	chr6:38653600-38669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:38653800-38663200	Weak transcription	Dnd41	blood
33	chr6:38654000-38657800	Enhancers	Liver	Liver
34	chr6:38654000-38663600	Weak transcription	K562	blood
35	chr6:38654400-38669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:38654600-38668000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:38654600-38668000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:38654600-38668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:38654600-38669400	Weak transcription	Hela-S3	cervix
40	chr6:38655200-38662000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:38655200-38665000	Weak transcription	NHEK	skin
42	chr6:38655200-38666600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:38655200-38667400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:38655200-38669800	Weak transcription	Pancreas	Pancrea
45	chr6:38655200-38670000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:38655400-38668000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:38655600-38658800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:38655600-38662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:38655600-38668000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:38656400-38658000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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