Variant report

Variant	rs16897612
Chromosome Location	chr8:100728370-100728371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:100728187-100728425	K562	blood:	n/a	chr8:100728285-100728299 chr8:100728286-100728299 chr8:100728287-100728301 chr8:100728286-100728297 chr8:100728287-100728297 chr8:100728285-100728296 chr8:100728285-100728305 chr8:100728286-100728299 chr8:100728286-100728300 chr8:100728286-100728299 chr8:100728286-100728299 chr8:100728283-100728297
2	CEBPB	chr8:100727702-100728764	Hela-S3	cervix:	n/a	chr8:100727937-100727948
3	TCF7L2	chr8:100728361-100728750	Hela-S3	cervix:	n/a	chr8:100728537-100728551

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100727442..100729999-chr8:100733297..100735869,2	K562	blood:

Variant related genes	Relation type
VPS13B	TF binding region

Extended variants
information (count: 32 )
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];0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs16897424	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap]
rs16897438	0.83[YRI][hapmap]
rs16897555	0.86[AFR][1000 genomes]
rs16897573	0.83[YRI][hapmap]
rs16897575	0.97[AFR][1000 genomes]
rs16897584	1.00[AFR][1000 genomes]
rs16897587	1.00[AFR][1000 genomes]
rs16897589	1.00[AFR][1000 genomes]
rs16897595	1.00[AFR][1000 genomes]
rs16897617	1.00[AFR][1000 genomes]
rs16897621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs16897638	1.00[AFR][1000 genomes]
rs16897642	1.00[AFR][1000 genomes]
rs16897651	0.95[AFR][1000 genomes]
rs16897718	1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes]
rs16897726	0.91[YRI][hapmap]
rs1979115	0.91[YRI][hapmap]
rs1979116	0.91[YRI][hapmap];0.97[AFR][1000 genomes]
rs2187191	1.00[AFR][1000 genomes]
rs4734437	0.91[YRI][hapmap]
rs57286336	0.88[AFR][1000 genomes]
rs57560513	1.00[AFR][1000 genomes]
rs57905511	1.00[AFR][1000 genomes]
rs59060675	1.00[AFR][1000 genomes]
rs896008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:65 , 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	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:100710200-100739800	Weak transcription	Psoas Muscle	Psoas
7	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:100712800-100729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:100713000-100732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:100713000-100733200	Weak transcription	Left Ventricle	heart
11	chr8:100713200-100732800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:100713200-100746800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:100713400-100729400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:100715200-100737400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:100716400-100739000	Weak transcription	Fetal Kidney	kidney
16	chr8:100716800-100744400	Weak transcription	Aorta	Aorta
17	chr8:100717400-100736600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:100718200-100733200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:100718600-100732600	Weak transcription	Ovary	ovary
20	chr8:100719600-100732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:100719600-100750600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:100720000-100737000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:100721600-100729600	Weak transcription	Primary B cells from cord blood	blood
24	chr8:100725600-100779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:100726000-100740200	Weak transcription	HSMMtube	muscle
26	chr8:100726400-100728600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:100726600-100728600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:100726600-100728800	Enhancers	Primary T cells from cord blood	blood
29	chr8:100726600-100728800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:100726600-100728800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:100726800-100728400	Enhancers	GM12878-XiMat	blood
32	chr8:100727000-100729600	Enhancers	Colon Smooth Muscle	Colon
33	chr8:100727000-100779000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:100727200-100728600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:100727200-100729600	Enhancers	Fetal Lung	lung
36	chr8:100727400-100729200	Enhancers	Hela-S3	cervix
37	chr8:100727600-100728400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:100727600-100728600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:100727600-100729000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:100727600-100731600	Weak transcription	Fetal Thymus	thymus
41	chr8:100727600-100732800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:100727600-100733000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:100727600-100733200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:100727600-100733200	Weak transcription	NHDF-Ad	bronchial
45	chr8:100727600-100735200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:100727600-100735800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:100727600-100736000	Weak transcription	Thymus	Thymus
48	chr8:100727600-100737600	Weak transcription	Gastric	stomach
49	chr8:100727600-100739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:100727600-100740200	Weak transcription	NHLF	lung

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