Variant report

Variant	rs2511662
Chromosome Location	chr8:103640433-103640434
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: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	chr8:103638875..103641204-chr8:103798891..103801842,3	MCF-7	breast:
2	chr8:103638730..103642072-chr8:103644705..103647673,4	MCF-7	breast:
3	chr8:103625983..103628633-chr8:103638163..103641004,2	MCF-7	breast:
4	chr8:103635452..103642989-chr8:103815632..103824530,15	MCF-7	breast:
5	chr8:103640384..103642627-chr8:103667013..103669617,2	K562	blood:
6	chr8:103639826..103643166-chr8:103658941..103661983,3	K562	blood:
7	chr8:103589874..103592222-chr8:103638978..103641450,2	K562	blood:
8	chr8:103602402..103604318-chr8:103640333..103643151,2	K562	blood:
9	chr8:103630411..103632954-chr8:103639327..103641054,2	MCF-7	breast:
10	chr8:103627845..103629493-chr8:103639298..103641445,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11552577	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1434278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1991934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2033563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2436966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2436968	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2511670	0.89[JPT][hapmap]
rs2511671	0.89[JPT][hapmap]
rs3133287	0.89[JPT][hapmap]
rs7816388	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
2	chr8:103635000-103646600	Weak transcription	Right Atrium	heart
3	chr8:103637200-103642400	Enhancers	Placenta	Placenta
4	chr8:103638000-103641400	Enhancers	HepG2	liver
5	chr8:103639000-103641400	Enhancers	K562	blood
6	chr8:103639400-103640800	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:103639400-103641000	Enhancers	A549	lung
8	chr8:103639600-103640600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103639600-103640800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:103639600-103640800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:103639600-103641200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:103639600-103641200	Enhancers	Left Ventricle	heart
13	chr8:103639600-103641200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:103639600-103641600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:103639800-103640600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:103639800-103640800	Enhancers	Fetal Stomach	stomach
17	chr8:103639800-103641200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:103639800-103641600	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:103640000-103640600	Weak transcription	Right Ventricle	heart
20	chr8:103640000-103646600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:103640200-103640600	Enhancers	Liver	Liver
22	chr8:103640200-103640800	Enhancers	Colonic Mucosa	Colon
23	chr8:103640200-103640800	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:103640200-103641200	Enhancers	Pancreas	Pancrea
25	chr8:103640200-103641600	Enhancers	Fetal Intestine Large	intestine
26	chr8:103640200-103641600	Enhancers	Fetal Intestine Small	intestine
27	chr8:103640200-103645200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:103640400-103641000	Weak transcription	Aorta	Aorta
29	chr8:103640400-103641200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:103640400-103641400	Enhancers	Stomach Mucosa	stomach
31	chr8:103640400-103641400	Enhancers	Hela-S3	cervix
32	chr8:103640400-103642200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:103640400-103642400	Enhancers	Fetal Heart	heart

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