Variant report

Variant	rs2670891
Chromosome Location	chr8:131280703-131280704
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:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089819	0.83[ASN][1000 genomes]
rs10091450	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100892	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031474	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1031475	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956512	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679149	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1426101	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2554369	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2670885	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2670888	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2670890	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2791338	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791342	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2791343	0.85[ASN][1000 genomes]
rs2791350	0.88[EUR][1000 genomes]
rs28495072	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2943086	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3057	0.80[AFR][1000 genomes]
rs6415510	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470801	0.85[ASN][1000 genomes]
rs6470804	0.85[ASN][1000 genomes]
rs6984963	0.80[AFR][1000 genomes]
rs7003309	0.83[ASN][1000 genomes]
rs7004884	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7008507	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839523	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7846376	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9297805	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:131270600-131291200	Weak transcription	Liver	Liver
9	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
10	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:131275400-131281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:131275600-131281200	Enhancers	Osteobl	bone
14	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:131275800-131281200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:131276400-131281200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131276400-131281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
20	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
21	chr8:131277000-131281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:131277000-131281000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:131277000-131281200	Weak transcription	Fetal Kidney	kidney
24	chr8:131277000-131281400	Weak transcription	Aorta	Aorta
25	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:131277000-131288200	Weak transcription	K562	blood
27	chr8:131277200-131280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:131277400-131281000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:131277400-131281000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
31	chr8:131277600-131281400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:131277600-131282200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:131278200-131281000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
36	chr8:131278400-131280800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:131278400-131281000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:131278400-131281000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:131278400-131281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:131278400-131281400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:131278400-131281400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:131278400-131281400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:131278400-131281400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
45	chr8:131278600-131281000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:131278600-131281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:131278600-131281200	Weak transcription	Right Ventricle	heart
48	chr8:131278600-131281200	Weak transcription	GM12878-XiMat	blood
49	chr8:131278600-131281200	Weak transcription	HepG2	liver
50	chr8:131278600-131281400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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