Variant report

Variant	rs72674646
Chromosome Location	chr8:100561877-100561878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100560158..100563558-chr8:100564572..100567827,4	K562	blood:
2	chr8:100558748..100564214-chr8:100565274..100568136,5	MCF-7	breast:
3	chr8:100553009..100554706-chr8:100561096..100563189,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61753722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674641	0.83[AMR][1000 genomes]
rs72674662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	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
13	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	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
15	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100508400-100574000	Weak transcription	Gastric	stomach
2	chr8:100516400-100589000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:100533800-100569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:100534800-100595800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:100535800-100573200	Weak transcription	Pancreas	Pancrea
6	chr8:100536000-100567200	Weak transcription	Aorta	Aorta
7	chr8:100536200-100596000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:100536600-100569600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:100537200-100564600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:100537200-100568600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:100537200-100568800	Weak transcription	Primary B cells from cord blood	blood
12	chr8:100537200-100570200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:100546600-100576600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:100550200-100568600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:100550400-100563800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:100550400-100569400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:100550400-100569400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:100550400-100596000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:100550400-100597600	Weak transcription	Dnd41	blood
20	chr8:100552800-100565000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:100555200-100564200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:100555200-100572200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:100555400-100588200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:100559400-100596000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:100560000-100596000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:100560200-100567400	Weak transcription	Small Intestine	intestine
27	chr8:100560200-100572600	Weak transcription	HSMM	muscle
28	chr8:100560200-100576200	Weak transcription	K562	blood
29	chr8:100560200-100580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:100560200-100596000	Weak transcription	Fetal Intestine Large	intestine
31	chr8:100560400-100564200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:100560400-100565200	Weak transcription	Stomach Mucosa	stomach
33	chr8:100560400-100576400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:100560400-100581400	Weak transcription	NHDF-Ad	bronchial
35	chr8:100560400-100582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:100560400-100583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:100560400-100583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:100560400-100596600	Weak transcription	Fetal Lung	lung
39	chr8:100560400-100619600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:100560600-100588000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:100560800-100565000	Weak transcription	Fetal Kidney	kidney
42	chr8:100561200-100562000	Enhancers	Primary T cells from cord blood	blood
43	chr8:100561800-100562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:100561800-100562000	Enhancers	Left Ventricle	heart
45	chr8:100561800-100562200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:100561800-100562200	Enhancers	Fetal Thymus	thymus
47	chr8:100561800-100562200	Enhancers	Ovary	ovary
48	chr8:100561800-100562400	Enhancers	Thymus	Thymus
49	chr8:100561800-100562600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:100561800-100568400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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