Variant report

Variant	rs12815548
Chromosome Location	chr12:51651637-51651638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51651057..51653473-chr12:51663212..51665129,2	MCF-7	breast:
2	chr12:51564366..51566982-chr12:51651188..51653949,2	K562	blood:
3	chr12:51640213..51641815-chr12:51650624..51652609,2	K562	blood:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10431488	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11542510	1.00[CHD][hapmap]
rs17860312	1.00[LWK][hapmap]
rs17860313	1.00[CEU][hapmap]
rs7342309	1.00[CHD][hapmap]
rs747300	1.00[CHD][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
2	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
5	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
6	chr12:51640000-51656400	Weak transcription	A549	lung
7	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
8	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
10	chr12:51640400-51659000	Weak transcription	HMEC	breast
11	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:51640600-51656600	Weak transcription	NHDF-Ad	bronchial
13	chr12:51640600-51661800	Weak transcription	NH-A	brain
14	chr12:51641000-51656600	Weak transcription	Osteobl	bone
15	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:51641800-51656400	Weak transcription	Stomach Mucosa	stomach
17	chr12:51641800-51656400	Weak transcription	HUVEC	blood vessel
18	chr12:51642000-51662800	Weak transcription	NHLF	lung
19	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon
20	chr12:51642200-51662800	Weak transcription	Gastric	stomach
21	chr12:51642200-51662800	Weak transcription	Right Ventricle	heart
22	chr12:51642200-51663000	Weak transcription	Lung	lung
23	chr12:51642400-51659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:51642400-51662800	Weak transcription	Primary B cells from cord blood	blood
25	chr12:51642600-51658000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:51642600-51659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:51642600-51659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:51642600-51662600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:51642800-51658800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:51643000-51662600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:51643200-51656600	Weak transcription	Spleen	Spleen
32	chr12:51643200-51662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:51644800-51655200	Weak transcription	K562	blood
34	chr12:51644800-51659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:51645000-51656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:51645000-51656600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:51645000-51658800	Weak transcription	Dnd41	blood
38	chr12:51645200-51661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:51647600-51656600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:51647600-51657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:51647800-51659200	Weak transcription	Placenta	Placenta
42	chr12:51648000-51656600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:51648200-51652600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:51648400-51652200	Strong transcription	Fetal Intestine Small	intestine
45	chr12:51648800-51652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:51648800-51662600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:51649000-51656200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:51649400-51661400	Weak transcription	Esophagus	oesophagus
49	chr12:51649400-51662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:51649600-51652200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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