Variant report

Variant	rs2791343
Chromosome Location	chr8:131316030-131316031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131313445..131319102-chr8:131321325..131324984,6	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10089819	0.91[CEU][hapmap]
rs10091450	0.87[CEU][hapmap];0.82[ASN][1000 genomes]
rs10100892	0.83[CEU][hapmap];0.82[ASN][1000 genomes]
rs10956512	0.81[ASN][1000 genomes]
rs1426101	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs2554369	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2554372	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2670885	0.84[CEU][hapmap];0.85[ASN][1000 genomes]
rs2670888	0.84[CEU][hapmap];0.84[ASN][1000 genomes]
rs2670890	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2670891	0.85[ASN][1000 genomes]
rs2791338	0.84[CEU][hapmap];0.86[ASN][1000 genomes]
rs2791342	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2791350	0.84[CEU][hapmap];0.90[ASN][1000 genomes]
rs28495072	0.83[ASN][1000 genomes]
rs2943086	0.83[CEU][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415510	0.80[CEU][hapmap];0.82[ASN][1000 genomes]
rs6470801	0.87[CEU][hapmap]
rs6470804	0.88[CEU][hapmap]
rs7817803	0.81[ASN][1000 genomes]
rs7846376	0.96[CEU][hapmap]
rs9297805	0.87[CEU][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
5	chr8:131310600-131316400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:131310800-131317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:131310800-131328200	Weak transcription	Lung	lung
8	chr8:131311600-131317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:131311600-131319200	Enhancers	NHDF-Ad	bronchial
10	chr8:131311600-131321600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:131312200-131317800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:131312200-131318400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:131312400-131316400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:131312600-131316400	Enhancers	NHLF	lung
15	chr8:131312600-131320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:131313000-131316200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:131313000-131316200	Enhancers	Psoas Muscle	Psoas
18	chr8:131313000-131316600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:131313000-131316800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131313200-131317000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:131313200-131320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:131313200-131321200	Weak transcription	GM12878-XiMat	blood
23	chr8:131313400-131317000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:131313400-131319600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
26	chr8:131313800-131317000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:131314000-131316400	Enhancers	HMEC	breast
28	chr8:131314200-131316200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:131314200-131316200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:131314200-131316400	Enhancers	Osteobl	bone
31	chr8:131314200-131317400	Enhancers	Liver	Liver
32	chr8:131314600-131316200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:131314600-131316200	Enhancers	NHEK	skin
34	chr8:131314600-131316400	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:131314800-131316200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:131315000-131318000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:131315000-131318200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131315000-131321000	Weak transcription	Spleen	Spleen
39	chr8:131315200-131316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:131315200-131318800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:131315400-131316200	Enhancers	Primary T cells from cord blood	blood
42	chr8:131315400-131316200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:131315400-131316600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:131315400-131316600	Weak transcription	Left Ventricle	heart
45	chr8:131315400-131316600	Weak transcription	HSMM	muscle
46	chr8:131315400-131316800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:131315400-131317200	Weak transcription	Ovary	ovary
48	chr8:131315400-131317200	Enhancers	A549	lung
49	chr8:131315400-131317200	Weak transcription	HSMMtube	muscle
50	chr8:131315400-131317600	Weak transcription	Right Ventricle	heart

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