Variant report

Variant	rs538191939
Chromosome Location	chr12:42537840-42537841
allele	C/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42536520..42538445-chr12:42636169..42638853,2	MCF-7	breast:
2	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
3	chr12:42537136..42539433-chr12:42719521..42721782,2	K562	blood:
4	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
5	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
6	chr12:42531594..42533278-chr12:42535914..42538108,2	K562	blood:
7	chr12:42537704..42540061-chr12:42725418..42727107,2	K562	blood:
8	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
9	chr12:42526307..42529075-chr12:42536491..42538067,2	K562	blood:
10	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
11	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
12	chr12:42536329..42538308-chr12:42715319..42718014,2	K562	blood:
13	chr12:42526307..42530299-chr12:42534078..42537991,4	K562	blood:
14	chr12:42537508..42540547-chr12:42555328..42558210,3	MCF-7	breast:
15	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000139168	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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3327626	chr12:42537735-42540233	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42534600-42538800	Active TSS	GM12878-XiMat	blood
2	chr12:42536800-42539000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42536800-42539400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:42537000-42538000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr12:42537000-42538000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:42537000-42538000	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr12:42537000-42538000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr12:42537000-42538000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:42537000-42538200	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr12:42537000-42539000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:42537000-42539000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:42537000-42539000	Active TSS	NHLF	lung
15	chr12:42537000-42539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:42537000-42539200	Active TSS	Lung	lung
17	chr12:42537000-42539400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:42537000-42539600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:42537200-42538000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr12:42537200-42538000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr12:42537200-42538000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr12:42537200-42538000	Flanking Active TSS	Liver	Liver
23	chr12:42537200-42538000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:42537200-42538200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:42537200-42539000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:42537200-42539000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:42537200-42539200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:42537200-42539200	Active TSS	A549	lung
29	chr12:42537200-42539200	Active TSS	HSMMtube	muscle
30	chr12:42537200-42539400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:42537200-42539400	Active TSS	Left Ventricle	heart
32	chr12:42537200-42539400	Active TSS	Right Atrium	heart
33	chr12:42537400-42538000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:42537400-42538000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:42537400-42538200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:42537400-42538200	Bivalent/Poised TSS	HepG2	liver
37	chr12:42537400-42538800	Active TSS	HMEC	breast
38	chr12:42537400-42538800	Active TSS	NHDF-Ad	bronchial
39	chr12:42537400-42539000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:42537400-42539000	Active TSS	Fetal Intestine Small	intestine
41	chr12:42537400-42539000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:42537400-42539000	Active TSS	NHEK	skin
43	chr12:42537400-42539200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:42537400-42539200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:42537400-42539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:42537400-42539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:42537400-42539200	Active TSS	Aorta	Aorta
48	chr12:42537400-42539200	Active TSS	Esophagus	oesophagus
49	chr12:42537400-42539200	Active TSS	Ovary	ovary
50	chr12:42537400-42539200	Active TSS	Pancreas	Pancrea

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