Variant report

Variant	rs16897573
Chromosome Location	chr8:100713439-100713440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100711733..100714570-chr8:100716914..100719775,2	MCF-7	breast:
2	chr8:100712738..100714435-chr8:100716061..100717614,2	K562	blood:
3	chr8:100707994..100711168-chr8:100711657..100714977,4	K562	blood:
4	chr8:100708369..100711314-chr8:100713303..100715085,2	MCF-7	breast:
5	chr8:100707994..100711279-chr8:100711487..100714977,4	K562	blood:

Variant related genes	Relation type
ENSG00000235683	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10504992	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs1449786	0.94[ASN][1000 genomes]
rs1449791	0.83[ASN][1000 genomes]
rs16892266	0.91[YRI][hapmap]
rs16897410	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs16897424	0.83[YRI][hapmap]
rs16897438	0.83[YRI][hapmap]
rs16897439	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs16897581	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897612	0.83[YRI][hapmap]
rs16897621	0.91[YRI][hapmap]
rs16897708	1.00[CHB][hapmap]
rs16897713	1.00[CHB][hapmap]
rs16897718	0.91[YRI][hapmap]
rs16897726	0.89[ASW][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[LWK][hapmap];0.91[YRI][hapmap]
rs16897728	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs1979115	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs1979116	0.91[YRI][hapmap]
rs1979117	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs2067529	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs2084554	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2084555	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2100220	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2871953	0.82[ASN][1000 genomes]
rs4734435	0.97[ASN][1000 genomes]
rs4734436	0.94[ASN][1000 genomes]
rs4734437	1.00[CHB][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4735632	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4735633	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735634	0.97[ASN][1000 genomes]
rs4735635	0.97[ASN][1000 genomes]
rs4735636	0.86[ASN][1000 genomes]
rs4735639	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4735642	0.81[AFR][1000 genomes]
rs4735646	1.00[CHB][hapmap]
rs61753724	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7832916	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7833256	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7833870	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs896008	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	nsv523290	chr8:100708595-100717925	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:100698000-100716000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:100698200-100714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:100698400-100714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:100699000-100718000	Weak transcription	K562	blood
7	chr8:100699400-100714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:100699600-100714600	Weak transcription	Ovary	ovary
9	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:100700000-100714600	Weak transcription	Aorta	Aorta
12	chr8:100700000-100714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:100700000-100716000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:100709200-100716000	Weak transcription	Esophagus	oesophagus
18	chr8:100709400-100716200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:100709600-100713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:100709600-100714600	Weak transcription	HSMMtube	muscle
21	chr8:100709600-100715000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:100710000-100716600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:100710000-100717000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:100710200-100714600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:100710200-100739800	Weak transcription	Psoas Muscle	Psoas
26	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:100710400-100714800	Weak transcription	GM12878-XiMat	blood
28	chr8:100710600-100717200	Weak transcription	Liver	Liver
29	chr8:100710800-100714400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:100711000-100717800	Weak transcription	NH-A	brain
31	chr8:100711200-100714600	Enhancers	Primary T cells from cord blood	blood
32	chr8:100711400-100713600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:100711400-100713600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:100711400-100713600	Enhancers	Thymus	Thymus
35	chr8:100711400-100714200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:100711400-100714600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:100711600-100714600	Weak transcription	Right Atrium	heart
38	chr8:100711600-100714800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:100711800-100713800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:100711800-100713800	Weak transcription	NHDF-Ad	bronchial
41	chr8:100711800-100714600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:100711800-100714600	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:100712000-100714000	Enhancers	Colon Smooth Muscle	Colon
44	chr8:100712000-100714600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:100712000-100714600	Weak transcription	NHLF	lung
46	chr8:100712000-100720200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:100712200-100714400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:100712400-100713600	Enhancers	Fetal Lung	lung
49	chr8:100712400-100714800	Enhancers	Fetal Heart	heart
50	chr8:100712400-100718800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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