Variant report

Variant	rs62425730
Chromosome Location	chr6:128798025-128798026
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	chr6:128796277..128798062-chr6:128801450..128803253,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1012629	1.00[ASN][1000 genomes]
rs11756545	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17459694	1.00[ASN][1000 genomes]
rs17460765	1.00[ASN][1000 genomes]
rs17460940	1.00[ASN][1000 genomes]
rs17461178	1.00[ASN][1000 genomes]
rs1935130	1.00[ASN][1000 genomes]
rs62425728	1.00[ASN][1000 genomes]
rs62425732	1.00[ASN][1000 genomes]
rs62425734	1.00[ASN][1000 genomes]
rs62425736	1.00[ASN][1000 genomes]
rs9482886	1.00[ASN][1000 genomes]
rs9491959	1.00[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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128787600-128799200	Weak transcription	HepG2	liver
2	chr6:128788000-128799000	Weak transcription	Liver	Liver
3	chr6:128791200-128800000	Weak transcription	Aorta	Aorta
4	chr6:128793000-128799400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:128793400-128799000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:128793400-128799400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:128793400-128803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:128793600-128799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:128794400-128798200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:128794400-128799200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:128795400-128799000	Weak transcription	Right Ventricle	heart
12	chr6:128795400-128799200	Enhancers	Brain Substantia Nigra	brain
13	chr6:128795400-128811600	Weak transcription	HSMMtube	muscle
14	chr6:128795600-128799200	Enhancers	NHDF-Ad	bronchial
15	chr6:128795600-128801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:128795800-128799400	Weak transcription	A549	lung
17	chr6:128796000-128799000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:128796000-128799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:128796000-128803800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:128796000-128811400	Weak transcription	HSMM	muscle
21	chr6:128796200-128799200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:128796200-128801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:128796400-128799200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:128796400-128799400	Weak transcription	Gastric	stomach
25	chr6:128796400-128799400	Weak transcription	Pancreas	Pancrea
26	chr6:128796400-128799400	Weak transcription	Small Intestine	intestine
27	chr6:128796400-128799400	Weak transcription	Osteobl	bone
28	chr6:128796600-128799400	Weak transcription	Left Ventricle	heart
29	chr6:128796600-128803600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:128796800-128799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:128796800-128799200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:128796800-128799200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:128796800-128799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:128796800-128803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:128797000-128799000	Weak transcription	Stomach Mucosa	stomach
36	chr6:128797000-128799200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:128797000-128799400	Weak transcription	Psoas Muscle	Psoas
38	chr6:128797200-128799200	Weak transcription	Fetal Intestine Large	intestine
39	chr6:128797200-128811600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:128797400-128798600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:128797400-128799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:128797400-128799200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:128797400-128799400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:128797400-128799400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:128797400-128799400	Weak transcription	HMEC	breast
46	chr6:128797400-128799400	Weak transcription	NHLF	lung
47	chr6:128797400-128800000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:128797400-128804800	Weak transcription	Fetal Heart	heart
49	chr6:128797400-128808200	Weak transcription	NH-A	brain
50	chr6:128797400-128822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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