Variant report

Variant	rs12231760
Chromosome Location	chr12:122905862-122905863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122905165..122906940-chr12:122983858..122986344,2	MCF-7	breast:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
4	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
5	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
6	chr12:122905706..122906639-chr8:59465457..59466042,2	Hela-S3	cervix:
7	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
8	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
9	chr12:122903628..122906130-chr12:122965497..122967386,2	K562	blood:
10	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
11	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
12	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000137575	Chromatin interaction
ENSG00000257097	Chromatin interaction

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

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3406745	chr12:122905624-122908172	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122885200-122906000	Weak transcription	Ovary	ovary
2	chr12:122887200-122906200	Weak transcription	Lung	lung
3	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
4	chr12:122904600-122906000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:122904800-122906000	Flanking Active TSS	Hela-S3	cervix
6	chr12:122904800-122906400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:122904800-122906400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:122905000-122906000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:122905000-122906000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122905000-122906000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:122905000-122906000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:122905000-122906000	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:122905000-122906000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr12:122905000-122906000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:122905000-122906000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:122905000-122906000	Enhancers	Spleen	Spleen
17	chr12:122905000-122906000	Flanking Active TSS	A549	lung
18	chr12:122905000-122906200	Flanking Active TSS	Liver	Liver
19	chr12:122905000-122906200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
21	chr12:122905200-122906000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:122905200-122906000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:122905200-122906000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:122905200-122906000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:122905200-122906000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122905200-122906000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122905200-122906000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:122905200-122906200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122905400-122906000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:122905400-122906000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:122905400-122906000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:122905400-122906000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr12:122905400-122906000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:122905400-122906000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:122905400-122906000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr12:122905400-122906000	Flanking Active TSS	HMEC	breast
37	chr12:122905400-122906000	Flanking Active TSS	NHEK	skin
38	chr12:122905400-122906000	Flanking Active TSS	Osteobl	bone
39	chr12:122905400-122906200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:122905400-122906200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:122905400-122906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:122905400-122906200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:122905400-122906200	Flanking Active TSS	Dnd41	blood
44	chr12:122905400-122906200	Flanking Active TSS	HUVEC	blood vessel
45	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:122905400-122906400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:122905600-122906000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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