Variant report

Variant	rs12306616
Chromosome Location	chr12:106537690-106537691
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	chr12:106529676..106534447-chr12:106536082..106538981,4	K562	blood:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17038111	1.00[GIH][hapmap]
rs6539250	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7965127	1.00[TSI][hapmap]
rs7980872	1.00[GIH][hapmap];1.00[TSI][hapmap]

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	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106533800-106541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:106534600-106538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:106534600-106538200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:106534600-106538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:106534600-106538600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:106534600-106539000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:106534600-106539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:106534600-106539200	Weak transcription	Lung	lung
9	chr12:106534600-106539200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:106534600-106539600	Weak transcription	Aorta	Aorta
11	chr12:106534600-106541600	Weak transcription	HSMM	muscle
12	chr12:106534800-106538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:106534800-106539200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:106534800-106539200	Enhancers	Liver	Liver
15	chr12:106534800-106540000	Enhancers	Brain Substantia Nigra	brain
16	chr12:106534800-106542000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:106535000-106538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:106535000-106540000	Enhancers	HSMMtube	muscle
19	chr12:106535000-106540200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:106535200-106539200	Weak transcription	Fetal Kidney	kidney
21	chr12:106535400-106538000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:106535400-106538400	Weak transcription	NHEK	skin
23	chr12:106535400-106538400	Weak transcription	Osteobl	bone
24	chr12:106535400-106539200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:106535400-106539200	Weak transcription	Gastric	stomach
26	chr12:106535600-106537800	Weak transcription	HUVEC	blood vessel
27	chr12:106535600-106538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:106535600-106538400	Weak transcription	NH-A	brain
29	chr12:106535600-106538600	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:106535600-106538800	Weak transcription	NHDF-Ad	bronchial
31	chr12:106535600-106539000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:106535600-106539200	Weak transcription	Ovary	ovary
33	chr12:106535600-106539400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:106535600-106539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:106535600-106543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:106535800-106539600	Enhancers	Fetal Brain Female	brain
37	chr12:106536200-106537800	Weak transcription	Pancreas	Pancrea
38	chr12:106536200-106539200	Weak transcription	Right Atrium	heart
39	chr12:106536200-106539200	Weak transcription	Right Ventricle	heart
40	chr12:106536200-106539200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:106536200-106539400	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:106536400-106538000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:106536400-106538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:106536600-106537800	Enhancers	A549	lung
45	chr12:106536600-106538000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr12:106536600-106538000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:106536600-106538400	Enhancers	Brain Anterior Caudate	brain
48	chr12:106536600-106539200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:106536600-106539200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:106536800-106538000	Weak transcription	Brain Angular Gyrus	brain

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