Variant report

Variant	rs2699906
Chromosome Location	chr3:178875136-178875137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178872310..178876129-chr3:178876945..178878643,3	MCF-7	breast:
2	chr3:178873426..178875261-chr3:178876713..178879813,4	K562	blood:
3	chr3:178869977..178872315-chr3:178873899..178875807,3	K562	blood:
4	chr3:178873426..178876051-chr3:178876789..178878414,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13082485	1.00[ASN][1000 genomes]
rs13099856	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517586	0.91[ASN][1000 genomes]
rs2542298	0.88[ASN][1000 genomes]
rs2677763	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677764	1.00[ASN][1000 genomes]
rs2677770	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2699887	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2699891	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2699893	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2699905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4955801	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6784495	0.91[ASN][1000 genomes]
rs73187259	1.00[ASN][1000 genomes]
rs9968179	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867200-178878200	Weak transcription	Gastric	stomach
2	chr3:178867600-178878200	Weak transcription	Pancreas	Pancrea
3	chr3:178867600-178882400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:178867600-178883400	Weak transcription	Stomach Mucosa	stomach
5	chr3:178867800-178878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:178867800-178878200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:178867800-178878200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:178868000-178878200	Weak transcription	Right Atrium	heart
10	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:178868400-178876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:178868600-178876200	Weak transcription	NHDF-Ad	bronchial
13	chr3:178868600-178881400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
15	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
17	chr3:178869800-178875800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:178869800-178877400	Weak transcription	Right Ventricle	heart
19	chr3:178869800-178877800	Weak transcription	Ovary	ovary
20	chr3:178869800-178878200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:178869800-178883400	Weak transcription	Liver	Liver
22	chr3:178870000-178880600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:178870600-178876000	Weak transcription	Fetal Heart	heart
24	chr3:178870800-178875200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:178870800-178876000	Weak transcription	GM12878-XiMat	blood
26	chr3:178870800-178896400	Weak transcription	K562	blood
27	chr3:178872000-178876200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:178872400-178876000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:178872400-178876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:178872400-178878200	Weak transcription	Left Ventricle	heart
31	chr3:178872400-178883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:178872800-178877600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:178873600-178876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:178873800-178875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:178873800-178879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:178874000-178876200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:178874000-178877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:178874000-178877800	Enhancers	Primary T cells from cord blood	blood
39	chr3:178874000-178880400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr3:178874400-178880200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:178874400-178880600	Weak transcription	HSMM	muscle
42	chr3:178874600-178875600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:178874600-178876000	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:178874600-178883000	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:178874800-178876000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:178874800-178877800	Weak transcription	Psoas Muscle	Psoas
47	chr3:178874800-178878200	Weak transcription	Adipose Nuclei	Adipose
48	chr3:178874800-178878200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:178874800-178878800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:178874800-178878800	Weak transcription	NHEK	skin

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