Variant report

Variant	rs10845551
Chromosome Location	chr12:12614495-12614496
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	chr12:12612821..12616513-chr12:12617624..12619681,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1019340	0.89[CHB][hapmap]
rs1030069	0.94[CHB][hapmap]
rs10459098	0.89[CHB][hapmap]
rs10772566	0.89[CHB][hapmap]
rs10772567	0.88[CHB][hapmap]
rs10845539	0.89[CHB][hapmap]
rs10845544	0.87[CHB][hapmap]
rs10845545	0.89[CHB][hapmap]
rs10845546	0.83[CHB][hapmap]
rs11561172	0.86[CHB][hapmap]
rs11609375	0.95[CHB][hapmap]
rs2160586	0.89[CHB][hapmap]
rs2216264	0.89[CHB][hapmap]
rs3751261	0.94[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3925170	0.89[CHB][hapmap]
rs4763825	0.89[CHB][hapmap]
rs4763829	0.89[CHB][hapmap]
rs4763830	0.95[CHB][hapmap]
rs7132512	0.89[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[ASN][1000 genomes]
rs7295080	0.89[CHB][hapmap]
rs7309503	0.89[CHB][hapmap]
rs7311364	0.89[CHB][hapmap]
rs7312010	0.96[ASN][1000 genomes]
rs7313825	0.95[CHB][hapmap]
rs7953025	0.89[CHB][hapmap]
rs7967111	0.89[CHB][hapmap]
rs7967466	0.89[CHB][hapmap]
rs7969849	0.89[CHB][hapmap]
rs888200	0.84[CHB][hapmap]
rs9412	0.89[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10845551	ETV6	cis	cerebellum	SCAN
rs10845551	ATF7IP	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:12596000-12620200	Weak transcription	HSMM	muscle
5	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12596800-12618200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:12596800-12618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:12597000-12617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12597400-12618200	Weak transcription	Gastric	stomach
11	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12599000-12618600	Weak transcription	Left Ventricle	heart
13	chr12:12600600-12616800	Weak transcription	Fetal Stomach	stomach
14	chr12:12601000-12620200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:12603200-12618400	Weak transcription	Esophagus	oesophagus
16	chr12:12603400-12618600	Weak transcription	Pancreas	Pancrea
17	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
19	chr12:12604600-12618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:12605200-12618400	Weak transcription	Liver	Liver
21	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
22	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:12609000-12623400	Weak transcription	A549	lung
25	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:12609800-12628400	Weak transcription	NHLF	lung
27	chr12:12610000-12618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:12610200-12618600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:12610200-12620200	Weak transcription	Osteobl	bone
30	chr12:12610400-12618400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:12610800-12622000	Weak transcription	NHEK	skin
32	chr12:12610800-12623000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:12610800-12623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
35	chr12:12611000-12618400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:12611000-12618600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:12611000-12619400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:12611000-12621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:12611000-12627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:12611000-12628600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:12611200-12617200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:12611200-12618200	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:12611200-12620200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:12611200-12622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:12611200-12627400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:12611200-12629000	Weak transcription	Hela-S3	cervix
47	chr12:12611400-12614600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:12611400-12618400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:12611400-12619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:12611400-12619200	Weak transcription	Adipose Nuclei	Adipose

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