Variant report

Variant	rs319942
Chromosome Location	chr12:51326005-51326006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51325611..51327602-chr12:51338374..51340609,2	K562	blood:
2	chr12:51322696..51325064-chr12:51325952..51327620,2	K562	blood:
3	chr12:51325288..51327339-chr12:51334095..51336282,2	K562	blood:
4	chr12:51325095..51327824-chr12:51330132..51332828,3	K562	blood:
5	chr12:51320246..51322142-chr12:51323288..51326015,3	K562	blood:
6	chr12:51325095..51328187-chr12:51330132..51332748,3	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6580769	1.00[JPT][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319200-51326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51319800-51326200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51320400-51328600	Weak transcription	HSMM	muscle
6	chr12:51320600-51327400	Weak transcription	Placenta	Placenta
7	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:51322200-51326400	Weak transcription	Hela-S3	cervix
9	chr12:51322200-51326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:51322200-51327200	Weak transcription	Fetal Heart	heart
11	chr12:51322200-51327200	Weak transcription	NHDF-Ad	bronchial
12	chr12:51322200-51327400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:51322200-51327400	Weak transcription	HSMMtube	muscle
14	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
15	chr12:51322400-51327200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:51322400-51327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:51322400-51327200	Weak transcription	Esophagus	oesophagus
18	chr12:51322400-51327600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:51322400-51327800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:51322600-51326400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:51322600-51326600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:51322600-51326600	Weak transcription	HMEC	breast
24	chr12:51322600-51326800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:51322600-51327200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:51322800-51326800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:51322800-51327600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:51322800-51328200	Weak transcription	NHEK	skin
29	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:51323000-51327200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:51323000-51327200	Weak transcription	Right Atrium	heart
32	chr12:51323000-51327800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:51323000-51331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
35	chr12:51323200-51328000	Weak transcription	NHLF	lung
36	chr12:51323400-51326200	Genic enhancers	HepG2	liver
37	chr12:51323400-51327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:51323400-51327200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:51323400-51327600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:51323400-51327600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:51323400-51330000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:51323400-51330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:51323400-51330800	Weak transcription	Brain Germinal Matrix	brain
44	chr12:51323400-51330800	Weak transcription	Fetal Brain Female	brain
45	chr12:51323600-51326600	Weak transcription	Brain Substantia Nigra	brain
46	chr12:51323600-51326600	Weak transcription	Dnd41	blood
47	chr12:51323600-51327200	Weak transcription	Brain Anterior Caudate	brain
48	chr12:51323600-51328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:51323600-51328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:51323800-51326200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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