Variant report

Variant	rs12543605
Chromosome Location	chr8:95415699-95415700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95414969..95418997-chr8:95420056..95423397,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3136405	0.92[AMR][1000 genomes]
rs57108375	0.81[AMR][1000 genomes]
rs60894328	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
4	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
5	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
9	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:95392600-95417400	Weak transcription	Osteobl	bone
15	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
16	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95393200-95447000	Weak transcription	K562	blood
19	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
20	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:95402800-95417000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:95404000-95416600	Weak transcription	Brain Germinal Matrix	brain
25	chr8:95404000-95418400	Weak transcription	NH-A	brain
26	chr8:95404200-95416400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:95406400-95416200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:95407800-95418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:95408200-95416000	Weak transcription	HSMM	muscle
33	chr8:95408400-95416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:95408600-95429000	Weak transcription	HMEC	breast
35	chr8:95409400-95415800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:95409400-95417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:95410600-95417200	Strong transcription	Dnd41	blood
40	chr8:95410600-95419200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:95412000-95419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
43	chr8:95412400-95418600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:95412600-95416400	Weak transcription	HepG2	liver
46	chr8:95412800-95416200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:95413000-95421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:95414200-95416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:95414400-95416600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:95414600-95415800	Strong transcription	A549	lung

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