Variant report

Variant	rs2791342
Chromosome Location	chr8:131314429-131314430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131219409..131220512-chr8:131314320..131315369,4	MCF-7	breast:
2	chr8:131313445..131319102-chr8:131321325..131324984,6	MCF-7	breast:
3	chr8:131305468..131307636-chr8:131313126..131315652,2	K562	blood:
4	chr8:131141533..131142136-chr8:131314383..131315223,2	MCF-7	breast:
5	chr8:131305468..131308042-chr8:131311655..131315652,3	K562	blood:
6	chr8:131278240..131280307-chr8:131313127..131315525,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10089819	0.83[CEU][hapmap];0.93[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs10091450	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10100892	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.82[ASN][1000 genomes]
rs10103280	1.00[CHB][hapmap]
rs10956512	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1158570	0.84[MEX][hapmap]
rs11775292	0.81[CHD][hapmap]
rs12679149	0.81[ASN][1000 genomes]
rs1340022	0.91[CHD][hapmap]
rs1426101	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904259	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2554369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2554372	0.82[CHB][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs2554373	0.82[CHD][hapmap]
rs2670885	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2670888	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2670890	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670891	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2791338	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2791343	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2791350	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]
rs28495072	0.84[ASN][1000 genomes]
rs2943086	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3057	0.81[LWK][hapmap];0.88[MEX][hapmap]
rs6415510	0.87[CEU][hapmap];0.84[ASN][1000 genomes]
rs6470801	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.80[ASN][1000 genomes]
rs6470802	0.81[CHD][hapmap]
rs6470804	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7004884	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs7460225	0.81[LWK][hapmap];0.88[MEX][hapmap]
rs7817803	0.81[LWK][hapmap];0.88[MEX][hapmap];0.90[YRI][hapmap]
rs7839523	0.88[MEX][hapmap]
rs7846376	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap]
rs9297805	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs966185	0.86[CHD][hapmap]

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131300400-131314800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:131302800-131315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131304400-131315600	Enhancers	Brain Hippocampus Middle	brain
6	chr8:131305200-131315400	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:131305800-131315400	Enhancers	Stomach Smooth Muscle	stomach
8	chr8:131306000-131314600	Weak transcription	Placenta	Placenta
9	chr8:131306000-131314800	Weak transcription	Fetal Brain Female	brain
10	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:131306200-131314600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:131306200-131314600	Weak transcription	Fetal Thymus	thymus
14	chr8:131306200-131315000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:131306800-131314800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
17	chr8:131308400-131314600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:131308400-131315600	Enhancers	Adipose Nuclei	Adipose
19	chr8:131308800-131314600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131309400-131314600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:131309400-131315400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:131309400-131315400	Enhancers	Brain Substantia Nigra	brain
23	chr8:131309800-131315400	Enhancers	Ovary	ovary
24	chr8:131309800-131315800	Enhancers	Fetal Heart	heart
25	chr8:131310000-131314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131310000-131315400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:131310000-131316000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:131310200-131314600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:131310200-131314600	Weak transcription	Thymus	Thymus
30	chr8:131310200-131314800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:131310400-131314600	Weak transcription	K562	blood
32	chr8:131310600-131316400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr8:131310800-131317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:131310800-131328200	Weak transcription	Lung	lung
35	chr8:131311200-131314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:131311400-131314600	Weak transcription	NHEK	skin
37	chr8:131311600-131316000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:131311600-131317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:131311600-131319200	Enhancers	NHDF-Ad	bronchial
40	chr8:131311600-131321600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:131311800-131315200	Enhancers	Brain Germinal Matrix	brain
42	chr8:131312000-131315600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:131312200-131315400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:131312200-131315600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:131312200-131315600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:131312200-131315800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:131312200-131315800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:131312200-131317800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:131312200-131318400	Weak transcription	Primary B cells from cord blood	blood
50	chr8:131312400-131315000	Enhancers	Fetal Muscle Leg	muscle

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