Variant report

Variant	rs2791350
Chromosome Location	chr8:131351353-131351354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131348745..131350255-chr8:131350268..131351932,2	K562	blood:
2	chr8:131340148..131342762-chr8:131349307..131352128,2	K562	blood:
3	chr8:131350003..131352344-chr8:131352418..131355673,3	K562	blood:
4	chr8:131349905..131352242-chr8:131352418..131356221,3	K562	blood:
5	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
6	chr8:131340635..131342968-chr8:131350699..131352695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10089819	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10091450	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10100892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10103280	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10956512	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1426101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16904259	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs2185366	0.80[ASN][1000 genomes]
rs2554369	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2554372	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2670885	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2670888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2670890	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2670891	0.88[EUR][1000 genomes]
rs2791338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2791342	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2791343	0.84[CEU][hapmap];0.90[ASN][1000 genomes]
rs28495072	0.81[EUR][1000 genomes]
rs2943086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6415510	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs72724494	0.84[EUR][1000 genomes]
rs7460225	0.81[ASN][1000 genomes]
rs7817803	0.90[YRI][hapmap]
rs7846376	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9297805	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
3	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
4	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
8	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
11	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
13	chr8:131346400-131353400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131346600-131352200	Weak transcription	Fetal Thymus	thymus
16	chr8:131347200-131351400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:131347400-131353800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:131347600-131352000	Weak transcription	Primary B cells from cord blood	blood
19	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:131347800-131353000	Weak transcription	Placenta	Placenta
22	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
23	chr8:131348000-131351400	Weak transcription	HSMM	muscle
24	chr8:131348000-131351800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:131348000-131352000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:131348000-131352000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:131348000-131352000	Weak transcription	Right Ventricle	heart
28	chr8:131348000-131352200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:131348000-131352400	Weak transcription	Adipose Nuclei	Adipose
30	chr8:131348000-131352600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:131348000-131353200	Weak transcription	Fetal Stomach	stomach
32	chr8:131348000-131354400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:131348000-131354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
35	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:131348200-131354400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:131348400-131352200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:131348600-131353200	Weak transcription	K562	blood
39	chr8:131348600-131354200	Weak transcription	Brain Substantia Nigra	brain
40	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:131348600-131358800	Weak transcription	Gastric	stomach
43	chr8:131348800-131354400	Weak transcription	Brain Angular Gyrus	brain
44	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:131349000-131353600	Weak transcription	Liver	Liver
46	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:131349200-131352600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:131349200-131354600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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