Variant report

Variant	rs2436951
Chromosome Location	chr8:103628262-103628263
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103625983..103628633-chr8:103638163..103641004,2	MCF-7	breast:
2	chr8:103627950..103630144-chr8:103642209..103643784,2	MCF-7	breast:
3	chr8:103304970..103307206-chr8:103625919..103628714,2	MCF-7	breast:
4	chr8:103627646..103630769-chr8:103644453..103646931,3	MCF-7	breast:
5	chr8:103622570..103626040-chr8:103626583..103631374,6	MCF-7	breast:
6	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
7	chr8:103627127..103628766-chr8:103799309..103800855,2	MCF-7	breast:
8	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
9	chr8:103627845..103629493-chr8:103639298..103641445,3	K562	blood:
10	chr8:103622538..103626629-chr8:103626817..103631339,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2436928	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436955	0.94[ASN][1000 genomes]
rs2436956	0.93[ASN][1000 genomes]
rs2436957	0.93[ASN][1000 genomes]
rs2436958	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436959	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436960	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2436962	0.85[ASN][1000 genomes]
rs2436963	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2436964	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2436965	0.89[ASN][1000 genomes]
rs2436967	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2436969	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2511656	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511659	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2511661	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511663	0.93[ASN][1000 genomes]
rs2511666	0.98[ASN][1000 genomes]
rs2511722	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs66485119	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6981411	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs7840069	0.85[ASN][1000 genomes]
rs873780	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103622800-103628600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
3	chr8:103623800-103630400	Enhancers	Primary B cells from cord blood	blood
4	chr8:103624800-103628400	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:103624800-103628800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:103625000-103629200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:103626200-103630600	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:103626400-103628800	Weak transcription	Liver	Liver
9	chr8:103626400-103629000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:103626600-103628600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:103626600-103628600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:103626600-103628600	Weak transcription	HSMM	muscle
13	chr8:103626600-103628800	Weak transcription	Osteobl	bone
14	chr8:103626600-103629000	Weak transcription	GM12878-XiMat	blood
15	chr8:103626600-103629800	Weak transcription	NHLF	lung
16	chr8:103626800-103628400	Weak transcription	K562	blood
17	chr8:103626800-103628600	Weak transcription	HSMMtube	muscle
18	chr8:103626800-103628800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:103626800-103629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103627200-103628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:103627200-103628600	Weak transcription	Fetal Kidney	kidney
22	chr8:103627800-103628400	Enhancers	Hela-S3	cervix
23	chr8:103627800-103631200	Enhancers	Placenta	Placenta
24	chr8:103628000-103629600	Enhancers	Fetal Stomach	stomach
25	chr8:103628000-103631200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:103628200-103628400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:103628200-103628600	Enhancers	A549	lung
28	chr8:103628200-103628800	Enhancers	Fetal Lung	lung
29	chr8:103628200-103629600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103628200-103630000	Enhancers	Rectal Mucosa Donor 31	rectum

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