Variant report

Variant	rs62512594
Chromosome Location	chr8:67434630-67434631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67433495..67435860-chr8:67695282..67696829,2	MCF-7	breast:
2	chr8:67347890..67350478-chr8:67432607..67434929,2	MCF-7	breast:
3	chr8:67429586..67437602-chr8:67518154..67525527,12	MCF-7	breast:
4	chr8:67351396..67355206-chr8:67431500..67436030,5	MCF-7	breast:
5	chr8:67433149..67436882-chr8:67628847..67631461,4	MCF-7	breast:
6	chr8:67434405..67435275-chr8:67626102..67627054,4	MCF-7	breast:
7	chr8:67431908..67437032-chr8:67623228..67628487,25	MCF-7	breast:
8	chr8:67433417..67436264-chr8:67835728..67838496,2	MCF-7	breast:
9	chr8:67434471..67435022-chr8:67653759..67654613,2	MCF-7	breast:
10	chr8:67424158..67425815-chr8:67434087..67435662,5	MCF-7	breast:
11	chr8:67370490..67380541-chr8:67430312..67436911,14	MCF-7	breast:
12	chr8:67434342..67437408-chr8:67468671..67471528,4	MCF-7	breast:
13	chr8:67341328..67344655-chr8:67433119..67436042,3	MCF-7	breast:
14	chr22:38143170..38145086-chr8:67433990..67435706,2	MCF-7	breast:
15	chr8:67433177..67435997-chr8:67507206..67509731,2	MCF-7	breast:
16	chr16:718519..721412-chr8:67433401..67435564,2	MCF-7	breast:
17	chr8:67424259..67425739-chr8:67434384..67435598,12	MCF-7	breast:
18	chr8:67433470..67435372-chr8:68649660..68651470,2	MCF-7	breast:
19	chr8:67429685..67437301-chr8:67452387..67457412,12	MCF-7	breast:
20	chr8:67434410..67435385-chr8:67625937..67627020,20	MCF-7	breast:
21	chr8:67434113..67435625-chr8:67503056..67505311,2	MCF-7	breast:
22	chr8:67383628..67386349-chr8:67433941..67437160,3	MCF-7	breast:
23	chr8:67340281..67342191-chr8:67431745..67435252,3	MCF-7	breast:
24	chr8:67432990..67435189-chr8:67574408..67576343,3	MCF-7	breast:
25	chr8:67434396..67436549-chr8:67480425..67483702,3	MCF-7	breast:
26	chr8:67434031..67436716-chr8:67485719..67488817,3	MCF-7	breast:
27	chr8:67432728..67435417-chr8:67831392..67833767,2	MCF-7	breast:
28	chr8:67434257..67436722-chr8:67439607..67442471,2	K562	blood:
29	chr12:125400332..125402647-chr8:67433130..67435300,2	MCF-7	breast:
30	chr8:67365575..67367889-chr8:67434479..67436578,2	MCF-7	breast:
31	chr8:67434437..67435280-chr8:67454628..67455146,2	MCF-7	breast:
32	chr8:67432986..67435790-chr8:67687234..67689856,2	MCF-7	breast:
33	chr8:67434410..67435385-chr8:67624931..67626939,17	MCF-7	breast:
34	chr8:67424552..67425654-chr8:67434384..67435380,10	MCF-7	breast:
35	chr8:67433260..67436043-chr8:67481600..67483401,2	MCF-7	breast:
36	chr8:67429729..67439141-chr8:67513957..67529788,42	MCF-7	breast:
37	chr8:67424716..67425333-chr8:67434436..67435290,5	MCF-7	breast:
38	chr8:67433067..67435793-chr8:67623489..67626372,3	MCF-7	breast:
39	chr8:67400231..67403065-chr8:67433723..67435649,2	MCF-7	breast:
40	chr8:67434399..67435255-chr8:67625653..67626504,4	MCF-7	breast:
41	chr3:32489011..32489531-chr8:67434447..67435295,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000140983	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000150991	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11985608	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11995298	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547831	0.98[ASN][1000 genomes]
rs16932954	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34346108	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34949628	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512590	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512592	0.97[ASN][1000 genomes]
rs62512597	0.99[ASN][1000 genomes]
rs62512598	0.99[ASN][1000 genomes]
rs6982757	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997318	1.00[ASN][1000 genomes]
rs6998821	0.99[ASN][1000 genomes]
rs7008801	0.99[ASN][1000 genomes]
rs7011235	1.00[ASN][1000 genomes]
rs73259750	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823762	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832611	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839827	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67429600-67435200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:67430000-67437800	Enhancers	Psoas Muscle	Psoas
3	chr8:67430400-67436200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67430800-67436400	Enhancers	Left Ventricle	heart
5	chr8:67430800-67436600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:67431000-67435200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:67431000-67435600	Enhancers	Right Atrium	heart
8	chr8:67431000-67436000	Enhancers	Lung	lung
9	chr8:67431000-67436600	Enhancers	Brain Angular Gyrus	brain
10	chr8:67432400-67436000	Enhancers	Esophagus	oesophagus
11	chr8:67432400-67436000	Enhancers	Placenta	Placenta
12	chr8:67432600-67434800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:67432600-67435400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:67432600-67436200	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:67432600-67436400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:67432600-67437800	Enhancers	Fetal Muscle Leg	muscle
17	chr8:67432800-67436000	Enhancers	Fetal Brain Male	brain
18	chr8:67433200-67435400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:67433200-67435600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:67433200-67435800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:67433200-67435800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:67433200-67435800	Enhancers	Pancreas	Pancrea
23	chr8:67433200-67436200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:67433200-67436600	Enhancers	Brain Substantia Nigra	brain
25	chr8:67433200-67440600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:67433400-67435400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:67433400-67435800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:67433400-67436000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:67433400-67436000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:67433400-67436000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:67433400-67436200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:67433400-67436200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:67433400-67438200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:67433600-67435400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:67433600-67435400	Enhancers	Colonic Mucosa	Colon
36	chr8:67433600-67435600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:67433600-67435600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr8:67433600-67435800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:67433600-67435800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:67433600-67436000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:67433600-67436000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:67433600-67436000	Enhancers	Adipose Nuclei	Adipose
43	chr8:67433600-67436200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:67433600-67436200	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:67433600-67436200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:67433600-67436200	Enhancers	HUVEC	blood vessel
47	chr8:67433600-67438000	Enhancers	Aorta	Aorta
48	chr8:67433800-67435000	Enhancers	Fetal Intestine Small	intestine
49	chr8:67433800-67435200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:67433800-67435400	Enhancers	Stomach Mucosa	stomach

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