Variant report

Variant	rs2791339
Chromosome Location	chr8:131287934-131287935
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	chr8:131279813..131282288-chr8:131286775..131289036,2	MCF-7	breast:
2	chr8:131281505..131283976-chr8:131286919..131289472,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10098244	0.86[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10099820	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs10103052	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10104573	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10109827	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13267150	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13276034	0.94[EUR][1000 genomes]
rs16893265	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs16904203	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16904256	1.00[JPT][hapmap]
rs2395992	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2670876	1.00[JPT][hapmap]
rs2670881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2670882	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2670886	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2670887	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791346	1.00[JPT][hapmap]
rs2791354	1.00[JPT][hapmap]
rs28413707	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28736405	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28857237	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2994295	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2994296	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2994298	1.00[JPT][hapmap]
rs3924350	1.00[JPT][hapmap]
rs4498576	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs4733570	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6415509	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs66513387	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72722357	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7825499	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7838372	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9694314	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131291200	Weak transcription	Liver	Liver
4	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
6	chr8:131277000-131288200	Weak transcription	K562	blood
7	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
8	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
10	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
11	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:131281800-131288800	Weak transcription	GM12878-XiMat	blood
14	chr8:131282000-131288200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:131282000-131288600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:131282000-131288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:131282000-131288600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:131282000-131288600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:131282000-131288600	Weak transcription	Fetal Lung	lung
20	chr8:131282000-131289200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
24	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:131282200-131288800	Weak transcription	Osteobl	bone
26	chr8:131282200-131289800	Weak transcription	HepG2	liver
27	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
28	chr8:131282400-131288200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:131282400-131288400	Weak transcription	Fetal Stomach	stomach
30	chr8:131282400-131288600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:131282400-131288800	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:131282400-131288800	Weak transcription	Lung	lung
33	chr8:131282400-131288800	Weak transcription	Psoas Muscle	Psoas
34	chr8:131282400-131289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:131282400-131289200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:131282400-131314800	Weak transcription	Gastric	stomach
37	chr8:131282600-131288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:131282600-131288600	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:131283400-131288800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:131283400-131289200	Weak transcription	Aorta	Aorta
41	chr8:131283400-131289800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:131283400-131290600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:131283600-131288600	Weak transcription	Left Ventricle	heart
44	chr8:131283600-131289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:131283600-131289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:131283600-131289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:131283800-131288600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:131283800-131290000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:131284000-131288400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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