Variant report

Variant	rs60283689
Chromosome Location	chr3:67646660-67646661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:67646494..67648769-chr3:67650220..67652674,2	MCF-7	breast:
2	chr3:67639021..67641563-chr3:67644439..67647690,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10510965	0.82[EUR][1000 genomes]
rs11127657	0.87[EUR][1000 genomes]
rs11924268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046587	0.83[EUR][1000 genomes]
rs17046684	0.90[AFR][1000 genomes]
rs17046689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076913	0.92[EUR][1000 genomes]
rs2363091	0.87[EUR][1000 genomes]
rs2885692	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662797	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55706427	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55780245	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55811928	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55871518	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55933747	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56149443	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56162614	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56291937	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56317125	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56341400	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56369665	0.83[EUR][1000 genomes]
rs56411806	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57450793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637570	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59742261	0.87[EUR][1000 genomes]
rs60954711	0.83[EUR][1000 genomes]
rs6765734	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767025	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6798438	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806897	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6810139	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72929333	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72929346	0.85[AFR][1000 genomes]
rs9683084	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9809720	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9824641	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830311	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9871141	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9882327	0.95[ASN][1000 genomes]
rs9882828	0.82[EUR][1000 genomes];0.95[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	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
2	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
3	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
7	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:67618600-67655600	Weak transcription	NH-A	brain
9	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
10	chr3:67621400-67650400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
12	chr3:67622000-67648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:67622400-67647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:67623400-67650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:67624400-67649200	Weak transcription	Fetal Intestine Large	intestine
17	chr3:67624800-67649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:67624800-67651000	Weak transcription	Adipose Nuclei	Adipose
19	chr3:67624800-67658200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:67627200-67655400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:67627600-67649000	Weak transcription	NHEK	skin
22	chr3:67628400-67655000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:67629200-67654800	Weak transcription	Fetal Kidney	kidney
24	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:67629400-67648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:67629400-67649200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:67629400-67649400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:67629400-67658000	Weak transcription	Right Ventricle	heart
29	chr3:67629600-67655600	Weak transcription	HUVEC	blood vessel
30	chr3:67631400-67700200	Weak transcription	K562	blood
31	chr3:67631800-67664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:67634800-67649200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:67635200-67646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:67636400-67649400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:67638000-67647000	Weak transcription	Aorta	Aorta
36	chr3:67638000-67650400	Weak transcription	Fetal Lung	lung
37	chr3:67638000-67650800	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:67638000-67651200	Weak transcription	Ovary	ovary
39	chr3:67638000-67657200	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:67638000-67657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:67638600-67655400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:67638600-67655600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:67638800-67653200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:67639000-67662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:67639200-67658600	Weak transcription	Colonic Mucosa	Colon
46	chr3:67640200-67656000	Weak transcription	Left Ventricle	heart
47	chr3:67640200-67656200	Weak transcription	Lung	lung
48	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
49	chr3:67640400-67658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:67640800-67657200	Weak transcription	Stomach Smooth Muscle	stomach

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