Variant report

Variant	rs10962812
Chromosome Location	chr9:17005380-17005381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:17004932..17007249-chr9:17011274..17013104,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10511632	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962796	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962797	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962798	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962801	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962811	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10962813	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10962814	0.98[ASN][1000 genomes]
rs10962819	0.84[EUR][1000 genomes]
rs12236468	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236482	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1487498	0.86[ASN][1000 genomes]
rs1487499	0.86[ASN][1000 genomes]
rs1487503	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16935232	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935239	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16935253	0.86[ASN][1000 genomes]
rs392302	0.93[EUR][1000 genomes]
rs4961519	0.86[ASN][1000 genomes]
rs55814049	0.86[AFR][1000 genomes]
rs57076691	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv613692	chr9:16963863-17070633	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17003400-17005400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:17003600-17005400	Enhancers	HSMM	muscle
3	chr9:17003800-17005800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:17004000-17005800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:17004000-17005800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:17004000-17006200	Enhancers	Fetal Lung	lung
7	chr9:17004400-17005600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr9:17004400-17005600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:17004400-17005600	Enhancers	NHLF	lung
10	chr9:17004400-17005800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:17004600-17005600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:17004600-17005600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr9:17004600-17006200	Enhancers	HepG2	liver
14	chr9:17004800-17005400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:17004800-17005600	Flanking Active TSS	Fetal Kidney	kidney
16	chr9:17004800-17005800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:17005000-17005400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:17005000-17005400	Active TSS	Duodenum Mucosa	Duodenum
19	chr9:17005000-17005400	Flanking Active TSS	A549	lung
20	chr9:17005000-17005600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:17005000-17005600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:17005000-17005600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:17005000-17005600	Active TSS	Aorta	Aorta
24	chr9:17005000-17005600	Active TSS	Brain Hippocampus Middle	brain
25	chr9:17005000-17005600	Active TSS	Fetal Muscle Leg	muscle
26	chr9:17005000-17005600	Active TSS	Ovary	ovary
27	chr9:17005000-17005600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr9:17005000-17005600	Active TSS	Right Atrium	heart
29	chr9:17005000-17005600	Active TSS	Stomach Smooth Muscle	stomach
30	chr9:17005000-17005600	Active TSS	NH-A	brain
31	chr9:17005000-17005600	Flanking Active TSS	NHEK	skin
32	chr9:17005000-17005800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr9:17005000-17005800	Flanking Active TSS	Osteobl	bone
34	chr9:17005200-17005400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:17005200-17005400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:17005200-17005400	Active TSS	Adipose Nuclei	Adipose
37	chr9:17005200-17005400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr9:17005200-17005400	Active TSS	Rectal Smooth Muscle	rectum
39	chr9:17005200-17005600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:17005200-17005600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:17005200-17005600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:17005200-17005600	Active TSS	Colon Smooth Muscle	Colon
43	chr9:17005200-17005600	Active TSS	Fetal Intestine Large	intestine
44	chr9:17005200-17005600	Active TSS	Fetal Intestine Small	intestine
45	chr9:17005200-17005600	Active TSS	Psoas Muscle	Psoas
46	chr9:17005200-17005600	Active TSS	HSMMtube	muscle
47	chr9:17005200-17005600	Flanking Active TSS	HUVEC	blood vessel
48	chr9:17005200-17005600	Active TSS	NHDF-Ad	bronchial
49	chr9:17005200-17006400	Enhancers	Stomach Mucosa	stomach

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