Variant report

Variant	rs12189826
Chromosome Location	chr6:146870177-146870178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146863064..146866628-chr6:146868587..146870728,3	K562	blood:
2	chr6:146863630..146867069-chr6:146868251..146871373,4	MCF-7	breast:
3	chr6:146869556..146872424-chr6:146874913..146877464,2	K562	blood:

Variant related genes	Relation type
ENSG00000118508	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11155475	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804286	0.94[EUR][1000 genomes]
rs3804288	0.81[EUR][1000 genomes]
rs3804289	0.81[EUR][1000 genomes]
rs6918907	0.81[EUR][1000 genomes]
rs6939108	0.81[EUR][1000 genomes]
rs7773384	0.92[EUR][1000 genomes]
rs9373498	0.94[EUR][1000 genomes]
rs9377003	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9377004	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390393	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399580	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033913	chr6:146572989-147092365	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538466	chr6:146572989-147092365	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv886749	chr6:146679735-147123699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	14 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	chr6:146864200-146870600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:146865800-146877400	Weak transcription	Placenta	Placenta
3	chr6:146865800-146878200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:146866000-146870600	Weak transcription	Ovary	ovary
5	chr6:146866400-146881800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:146866600-146870600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:146866600-146870600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:146866600-146870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:146866600-146871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:146866600-146875800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:146866600-146876200	Weak transcription	Psoas Muscle	Psoas
12	chr6:146866600-146877800	Weak transcription	Gastric	stomach
13	chr6:146866600-146877800	Weak transcription	Lung	lung
14	chr6:146866600-146883800	Weak transcription	Small Intestine	intestine
15	chr6:146866600-146885800	Weak transcription	Pancreas	Pancrea
16	chr6:146866800-146870600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:146866800-146877600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:146866800-146878000	Weak transcription	Brain Substantia Nigra	brain
19	chr6:146867000-146872400	Weak transcription	Left Ventricle	heart
20	chr6:146867000-146876000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:146867000-146877200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:146867000-146877800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:146867000-146880600	Weak transcription	Right Ventricle	heart
24	chr6:146867200-146870600	Weak transcription	Thymus	Thymus
25	chr6:146867200-146870800	Weak transcription	Fetal Kidney	kidney
26	chr6:146867200-146870800	Weak transcription	Fetal Thymus	thymus
27	chr6:146867200-146871400	Weak transcription	Fetal Stomach	stomach
28	chr6:146867200-146871600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:146867200-146875600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:146867200-146875600	Weak transcription	Colonic Mucosa	Colon
31	chr6:146867200-146877800	Weak transcription	Primary T cells from cord blood	blood
32	chr6:146867400-146870600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:146867400-146870600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:146867400-146875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:146867400-146875800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:146867400-146877400	Weak transcription	Fetal Intestine Small	intestine
37	chr6:146867600-146870600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:146867800-146870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:146867800-146870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:146867800-146875200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:146868000-146870600	Weak transcription	Fetal Intestine Large	intestine
42	chr6:146868000-146873800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:146868200-146870400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:146868200-146870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:146868200-146870600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:146868200-146870600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:146868200-146870600	Weak transcription	Fetal Lung	lung
48	chr6:146868200-146870600	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:146868200-146876800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:146868400-146870600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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