Variant report

Variant	rs12208423
Chromosome Location	chr6:37100698-37100699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37098264..37100378-chr6:37100579..37103118,2	K562	blood:
2	chr6:37071011..37072656-chr6:37100071..37101969,2	MCF-7	breast:
3	chr6:37097868..37100736-chr6:37102286..37104277,4	MCF-7	breast:
4	chr6:37100437..37107412-chr6:37134497..37140712,18	MCF-7	breast:
5	chr6:37082845..37084683-chr6:37099143..37101033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10947659	0.88[ASN][1000 genomes]
rs12196469	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12208425	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12210148	0.94[ASN][1000 genomes]
rs1224288	0.82[ASN][1000 genomes]
rs2395668	0.94[ASN][1000 genomes]
rs6918039	0.82[ASN][1000 genomes]
rs7757939	0.88[ASN][1000 genomes]
rs9462263	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9462264	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9462265	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470488	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9470489	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9470491	0.94[ASN][1000 genomes]
rs9470505	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37092800-37102000	Weak transcription	Pancreas	Pancrea
2	chr6:37096800-37104800	Weak transcription	Right Ventricle	heart
3	chr6:37098600-37104600	Weak transcription	GM12878-XiMat	blood
4	chr6:37099400-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:37099400-37101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:37099400-37101800	Weak transcription	Gastric	stomach
7	chr6:37099400-37102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:37099600-37101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:37099600-37101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:37099600-37101600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:37099600-37101600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:37099600-37101800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:37099600-37101800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:37099600-37101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:37099600-37101800	Weak transcription	Esophagus	oesophagus
16	chr6:37099600-37101800	Weak transcription	Fetal Brain Female	brain
17	chr6:37099600-37102000	Weak transcription	Liver	Liver
18	chr6:37099600-37102200	Weak transcription	Brain Germinal Matrix	brain
19	chr6:37099600-37102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:37099600-37102400	Weak transcription	Brain Angular Gyrus	brain
21	chr6:37099600-37103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:37099600-37105200	Weak transcription	Ovary	ovary
23	chr6:37099800-37101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:37099800-37101400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:37099800-37101400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:37099800-37101400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:37099800-37101400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:37099800-37101400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:37099800-37101400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:37099800-37101400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:37099800-37101400	Weak transcription	Placenta	Placenta
32	chr6:37099800-37101400	Weak transcription	Fetal Stomach	stomach
33	chr6:37099800-37101400	Weak transcription	NHDF-Ad	bronchial
34	chr6:37099800-37101600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:37099800-37101600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:37099800-37101600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:37099800-37101600	Weak transcription	Adipose Nuclei	Adipose
38	chr6:37099800-37101600	Weak transcription	Colonic Mucosa	Colon
39	chr6:37099800-37101600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:37099800-37101600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:37099800-37101600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:37099800-37101600	Weak transcription	NHEK	skin
43	chr6:37099800-37101600	Weak transcription	NHLF	lung
44	chr6:37099800-37101600	Weak transcription	Osteobl	bone
45	chr6:37099800-37101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:37099800-37101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:37099800-37101800	Weak transcription	Lung	lung
48	chr6:37099800-37101800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:37099800-37101800	Weak transcription	Spleen	Spleen
50	chr6:37099800-37102000	Weak transcription	Psoas Muscle	Psoas

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