Variant report

Variant	rs2511671
Chromosome Location	chr8:103629522-103629523
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103627950..103630144-chr8:103642209..103643784,2	MCF-7	breast:
2	chr8:103628414..103630902-chr8:103665776..103668447,2	MCF-7	breast:
3	chr8:103627646..103630769-chr8:103644453..103646931,3	MCF-7	breast:
4	chr8:103622570..103626040-chr8:103626583..103631374,6	MCF-7	breast:
5	chr8:103613018..103613763-chr8:103628959..103629939,2	MCF-7	breast:
6	chr8:103612945..103613788-chr8:103628939..103629933,3	MCF-7	breast:
7	chr8:103424239..103426883-chr8:103628638..103630837,2	MCF-7	breast:
8	chr8:103628443..103630638-chr8:103668451..103670102,2	MCF-7	breast:
9	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
10	chr8:103628534..103630201-chr8:103632702..103634900,2	MCF-7	breast:
11	chr8:103622538..103626629-chr8:103626817..103631339,6	K562	blood:
12	chr8:103622636..103626514-chr8:103628433..103631339,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253382	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10505031	0.81[CHB][hapmap]
rs12681683	0.81[ASN][1000 genomes]
rs1434278	0.90[JPT][hapmap]
rs1991934	0.90[JPT][hapmap]
rs2033563	0.90[JPT][hapmap];0.81[LWK][hapmap]
rs2436932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436966	0.90[JPT][hapmap];0.81[LWK][hapmap]
rs2511657	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511662	0.89[JPT][hapmap]
rs2511670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018452	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57376184	0.81[ASN][1000 genomes]
rs919957	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
2	chr8:103623800-103630400	Enhancers	Primary B cells from cord blood	blood
3	chr8:103626200-103630600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:103626600-103629800	Weak transcription	NHLF	lung
5	chr8:103627800-103631200	Enhancers	Placenta	Placenta
6	chr8:103628000-103629600	Enhancers	Fetal Stomach	stomach
7	chr8:103628000-103631200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:103628200-103629600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:103628200-103630000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:103628400-103630200	Enhancers	Colon Smooth Muscle	Colon
11	chr8:103628600-103630000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:103628600-103630200	Enhancers	HSMMtube	muscle
13	chr8:103628800-103630000	Enhancers	Fetal Muscle Leg	muscle
14	chr8:103628800-103630000	Enhancers	Stomach Mucosa	stomach
15	chr8:103629000-103634000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:103629200-103629600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:103629200-103629600	Active TSS	A549	lung
18	chr8:103629200-103629600	Weak transcription	GM12878-XiMat	blood
19	chr8:103629200-103629600	Weak transcription	K562	blood
20	chr8:103629200-103629800	Active TSS	Hela-S3	cervix
21	chr8:103629200-103630000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:103629400-103630000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:103629400-103630000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:103629400-103630000	Enhancers	Osteobl	bone

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