Variant report

Variant	rs2450576
Chromosome Location	chr8:95369919-95369920
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95369732..95371787-chr8:95374692..95376567,2	MCF-7	breast:
2	chr8:94995005..94995988-chr8:95369058..95370213,3	MCF-7	breast:
3	chr8:95006752..95007561-chr8:95369323..95370262,4	MCF-7	breast:
4	chr8:95217922..95218880-chr8:95369574..95370256,2	MCF-7	breast:
5	chr8:95006655..95007631-chr8:95369017..95370554,8	MCF-7	breast:
6	chr8:94833038..94833863-chr8:95369776..95370398,2	K562	blood:
7	chr8:95003273..95004088-chr8:95369660..95370171,2	K562	blood:
8	chr8:95224589..95225412-chr8:95369113..95370095,2	MCF-7	breast:
9	chr8:94834677..94835228-chr8:95369672..95370440,2	MCF-7	breast:
10	chr8:95091715..95092919-chr8:95368889..95370253,5	MCF-7	breast:
11	chr8:95003190..95004202-chr8:95369017..95370691,18	MCF-7	breast:
12	chr8:95003317..95003890-chr8:95369077..95370310,3	MCF-7	breast:
13	chr8:95091650..95093095-chr8:95368964..95370356,24	MCF-7	breast:
14	chr8:95254047..95254705-chr8:95369510..95370184,2	K562	blood:
15	chr8:95284323..95284872-chr8:95369403..95370063,2	MCF-7	breast:
16	chr8:94706043..94706846-chr8:95369608..95370402,3	MCF-7	breast:
17	chr8:95091991..95093563-chr8:95368599..95370272,2	MCF-7	breast:
18	chr8:94834527..94835233-chr8:95369578..95370151,2	K562	blood:

No data

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10956912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11778733	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786007	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244209	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2263133	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2445698	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445701	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445713	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445727	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2448907	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2448914	0.86[ASN][1000 genomes]
rs2448915	0.98[ASN][1000 genomes]
rs2450248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450550	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450551	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450552	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450555	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2450560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450562	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450563	0.95[ASN][1000 genomes]
rs2450564	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450566	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450571	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450577	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2470727	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470729	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470730	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470734	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470738	0.83[ASN][1000 genomes]
rs2470741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470745	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515097	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515105	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515109	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515119	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515120	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515121	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515122	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515132	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515142	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515151	1.00[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515158	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515159	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515160	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515164	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515166	0.97[ASN][1000 genomes]
rs2515168	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28503419	0.89[ASN][1000 genomes]
rs3098702	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098704	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098727	0.89[EUR][1000 genomes]
rs3099402	0.89[EUR][1000 genomes]
rs3136400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136414	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56303696	0.89[ASN][1000 genomes]
rs7007534	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs882521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95365800-95378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:95365800-95385000	Weak transcription	NHEK	skin
4	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:95366000-95372400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:95366000-95375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:95369000-95370000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr8:95369000-95370000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:95369200-95370000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:95369200-95370000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:95369200-95370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:95369200-95370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:95369200-95370000	Enhancers	Fetal Intestine Large	intestine
14	chr8:95369200-95370000	Enhancers	A549	lung
15	chr8:95369200-95370200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:95369200-95370200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:95369200-95370200	Enhancers	Fetal Heart	heart
18	chr8:95369200-95370200	Enhancers	HMEC	breast
19	chr8:95369200-95370600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:95369200-95370600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:95369400-95370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:95369400-95370000	Enhancers	NHDF-Ad	bronchial
23	chr8:95369400-95370200	Enhancers	Osteobl	bone
24	chr8:95369400-95370400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95369400-95383600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:95369600-95370000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:95369600-95370000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:95369600-95370000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95369600-95370000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:95369600-95370000	Enhancers	HUVEC	blood vessel
31	chr8:95369600-95370000	Enhancers	NHLF	lung
32	chr8:95369600-95370200	Enhancers	NH-A	brain
33	chr8:95369600-95370600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:95369800-95370000	Enhancers	Brain Germinal Matrix	brain
35	chr8:95369800-95370000	Enhancers	HSMM	muscle

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