Variant report

Variant	rs16897575
Chromosome Location	chr8:100717824-100717825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100717456..100719730-chr8:100748168..100750293,2	MCF-7	breast:
2	chr8:100711733..100714570-chr8:100716914..100719775,2	MCF-7	breast:
3	chr8:100714775..100716428-chr8:100716613..100718329,2	MCF-7	breast:
4	chr8:100715769..100720445-chr8:100721674..100725414,4	MCF-7	breast:
5	chr8:100717025..100719851-chr8:100729723..100732279,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16892266	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16897424	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]
rs16897438	0.91[YRI][hapmap]
rs16897555	0.84[AFR][1000 genomes]
rs16897573	0.91[YRI][hapmap]
rs16897584	0.97[AFR][1000 genomes]
rs16897587	0.97[AFR][1000 genomes]
rs16897589	0.97[AFR][1000 genomes]
rs16897595	0.97[AFR][1000 genomes]
rs16897612	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes]
rs16897617	0.97[AFR][1000 genomes]
rs16897621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16897638	0.97[AFR][1000 genomes]
rs16897642	0.97[AFR][1000 genomes]
rs16897651	0.93[AFR][1000 genomes]
rs16897718	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16897726	1.00[YRI][hapmap]
rs1979115	1.00[YRI][hapmap]
rs1979116	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2187191	0.97[AFR][1000 genomes]
rs4734437	1.00[YRI][hapmap]
rs57286336	0.86[AFR][1000 genomes]
rs57560513	0.97[AFR][1000 genomes]
rs57905511	0.97[AFR][1000 genomes]
rs59060675	0.97[AFR][1000 genomes]
rs896008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]

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:56 , 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	chr8:100699000-100718000	Weak transcription	K562	blood
3	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:100710200-100739800	Weak transcription	Psoas Muscle	Psoas
9	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:100712000-100720200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:100712400-100718800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:100712800-100729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:100713000-100718400	Weak transcription	Small Intestine	intestine
14	chr8:100713000-100732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:100713000-100733200	Weak transcription	Left Ventricle	heart
16	chr8:100713200-100718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:100713200-100720000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:100713200-100732800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:100713200-100746800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:100713400-100729400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:100715000-100718200	Weak transcription	Ovary	ovary
22	chr8:100715000-100719400	Enhancers	Rectal Smooth Muscle	rectum
23	chr8:100715000-100725600	Weak transcription	HSMMtube	muscle
24	chr8:100715200-100719400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:100715200-100719400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:100715200-100727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:100715200-100737400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:100715400-100719000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:100715600-100718800	Enhancers	Primary T cells from cord blood	blood
30	chr8:100715800-100718600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:100716200-100719600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:100716200-100719600	Enhancers	HMEC	breast
33	chr8:100716400-100720200	Enhancers	Colon Smooth Muscle	Colon
34	chr8:100716400-100720400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr8:100716400-100739000	Weak transcription	Fetal Kidney	kidney
36	chr8:100716600-100719000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:100716800-100718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:100716800-100719000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:100716800-100726800	Weak transcription	Thymus	Thymus
40	chr8:100716800-100744400	Weak transcription	Aorta	Aorta
41	chr8:100717000-100718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:100717200-100718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:100717200-100718200	Weak transcription	Fetal Stomach	stomach
44	chr8:100717400-100718000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:100717400-100718200	Weak transcription	NHLF	lung
46	chr8:100717400-100736600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:100717600-100719000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:100717600-100720000	Enhancers	Hela-S3	cervix
49	chr8:100717600-100727000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:100717800-100718200	Enhancers	Rectal Mucosa Donor 29	rectum

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