Variant report

Variant	rs12319948
Chromosome Location	chr12:57655470-57655471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57655251..57655989-chr12:57846287..57846981,2	MCF-7	breast:
2	chr12:57655062..57656842-chr12:57848026..57849924,2	K562	blood:
3	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:
4	chr12:57654094..57657253-chr12:57855291..57857912,3	K562	blood:
5	chr12:57655342..57658281-chr12:57847434..57849924,2	K562	blood:

Variant related genes	Relation type
ENSG00000139269	Chromatin interaction
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2229277	1.00[CHB][hapmap]
rs7974137	1.00[CHB][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
2	chr12:57645200-57655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:57646000-57667600	Strong transcription	Thymus	Thymus
4	chr12:57646200-57657000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:57647000-57655800	Strong transcription	Fetal Intestine Small	intestine
6	chr12:57647000-57657000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:57647000-57657200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57647200-57655600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:57647200-57656600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:57647200-57657000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr12:57647200-57657200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:57647200-57657200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:57647200-57657400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:57647200-57657800	Strong transcription	Fetal Thymus	thymus
15	chr12:57647200-57668200	Strong transcription	Fetal Stomach	stomach
16	chr12:57648000-57657200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:57648000-57657200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:57648000-57657400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:57648000-57657400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:57648200-57655800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:57648200-57657400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:57648200-57657400	Strong transcription	Primary T cells from cord blood	blood
23	chr12:57648400-57656200	Strong transcription	Spleen	Spleen
24	chr12:57648400-57656600	Strong transcription	Colonic Mucosa	Colon
25	chr12:57648400-57656600	Strong transcription	Lung	lung
26	chr12:57648400-57656800	Strong transcription	Primary B cells from cord blood	blood
27	chr12:57648400-57656800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:57648400-57656800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:57648400-57656800	Strong transcription	NHLF	lung
30	chr12:57648400-57657000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:57648400-57657000	Strong transcription	Adipose Nuclei	Adipose
32	chr12:57648400-57657000	Strong transcription	Colon Smooth Muscle	Colon
33	chr12:57648400-57657200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:57648400-57657200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:57648400-57657200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:57648400-57657200	Strong transcription	Placenta	Placenta
37	chr12:57648400-57661600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:57648600-57656800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:57648600-57657200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:57648800-57655800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:57648800-57657000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:57649200-57656800	Strong transcription	Fetal Lung	lung
43	chr12:57649400-57656600	Strong transcription	Ovary	ovary
44	chr12:57649600-57656600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:57649800-57656200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:57651200-57656800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr12:57651200-57657200	Strong transcription	NHDF-Ad	bronchial
48	chr12:57651400-57656200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:57652000-57662000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:57652000-57662000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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