Variant report

Variant	rs12549394
Chromosome Location	chr8:104343607-104343608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104341563..104343824-chr8:104362835..104365347,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12543397	1.00[AFR][1000 genomes]
rs12546452	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12682141	1.00[EUR][1000 genomes]
rs3098216	1.00[EUR][1000 genomes]
rs3133812	1.00[EUR][1000 genomes]
rs3134268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
2	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
3	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
4	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
6	chr8:104312400-104350000	Weak transcription	Lung	lung
7	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
13	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:104322800-104350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:104324800-104348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:104327800-104344800	Weak transcription	A549	lung
18	chr8:104328200-104344600	Weak transcription	HepG2	liver
19	chr8:104328200-104355800	Weak transcription	Gastric	stomach
20	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
21	chr8:104328800-104345600	Weak transcription	Fetal Heart	heart
22	chr8:104330400-104350200	Weak transcription	Psoas Muscle	Psoas
23	chr8:104331800-104347200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:104331800-104352000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:104332000-104348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:104333000-104344800	Weak transcription	Fetal Stomach	stomach
27	chr8:104334200-104347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:104334200-104348800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:104335800-104347800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:104336600-104348400	Weak transcription	GM12878-XiMat	blood
31	chr8:104337400-104344400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:104337400-104344400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:104337600-104348600	Weak transcription	HSMMtube	muscle
34	chr8:104337800-104350200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:104337800-104351800	Weak transcription	Aorta	Aorta
36	chr8:104338000-104345200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:104338000-104350000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:104338200-104348400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:104338600-104348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:104340200-104346000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:104340200-104347200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:104340400-104344000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:104340600-104348400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:104340600-104349000	Weak transcription	Fetal Kidney	kidney
45	chr8:104340800-104346200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:104340800-104350000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:104341800-104343800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:104341800-104343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:104341800-104343800	Strong transcription	NHEK	skin
50	chr8:104341800-104344000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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