Variant report

Variant	rs3134276
Chromosome Location	chr8:104457686-104457687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104452860..104455515-chr8:104457283..104461152,3	MCF-7	breast:
2	chr8:104427774..104429306-chr8:104457033..104459237,2	MCF-7	breast:
3	chr8:104426151..104429283-chr8:104456389..104461513,4	K562	blood:
4	chr8:104453549..104455380-chr8:104457133..104459742,2	K562	blood:
5	chr8:104310712..104312768-chr8:104456343..104459530,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17228576	1.00[JPT][hapmap]
rs2917546	1.00[JPT][hapmap]
rs2917548	1.00[JPT][hapmap]
rs3098226	1.00[JPT][hapmap]
rs3134257	1.00[JPT][hapmap]
rs3134260	1.00[JPT][hapmap]
rs3134263	1.00[JPT][hapmap]
rs3134269	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104428800-104460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:104429000-104457800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:104429000-104458600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:104429000-104459000	Weak transcription	Brain Angular Gyrus	brain
7	chr8:104429000-104459000	Weak transcription	Gastric	stomach
8	chr8:104429000-104461400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:104429200-104458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:104429400-104458600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:104430600-104461200	Weak transcription	Pancreas	Pancrea
12	chr8:104432000-104460600	Weak transcription	Small Intestine	intestine
13	chr8:104433000-104458000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:104434400-104466600	Weak transcription	Psoas Muscle	Psoas
15	chr8:104434600-104459400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:104434800-104462000	Weak transcription	Spleen	Spleen
17	chr8:104440600-104459000	Weak transcription	Lung	lung
18	chr8:104441800-104458800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:104441800-104461200	Weak transcription	Esophagus	oesophagus
20	chr8:104441800-104462800	Weak transcription	Aorta	Aorta
21	chr8:104448400-104459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:104449400-104458000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:104449600-104459000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:104449800-104459000	Weak transcription	NHLF	lung
25	chr8:104451600-104459200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:104452000-104458000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:104452600-104458000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:104453200-104457800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:104453600-104459800	Weak transcription	Fetal Lung	lung
30	chr8:104453600-104460800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:104453800-104458800	Weak transcription	Colonic Mucosa	Colon
32	chr8:104453800-104461200	Weak transcription	Fetal Brain Female	brain
33	chr8:104454000-104458800	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:104454000-104459000	Weak transcription	Right Ventricle	heart
35	chr8:104454000-104462800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:104454400-104457800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:104454400-104457800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:104454400-104460200	Weak transcription	K562	blood
39	chr8:104454800-104458600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:104455200-104457800	Weak transcription	NHDF-Ad	bronchial
41	chr8:104455200-104458800	Weak transcription	HepG2	liver
42	chr8:104455200-104459000	Strong transcription	Primary B cells from cord blood	blood
43	chr8:104455600-104457800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:104456000-104458000	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:104456400-104458000	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:104456600-104459600	Strong transcription	HSMM	muscle
47	chr8:104456800-104458200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:104456800-104458400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:104456800-104458600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:104457000-104457800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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