Variant report

Variant	rs545565124
Chromosome Location	chr12:42538104-42538105
allele	A/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr10:74927339..74927965-chr12:42538056..42538844,2	Hela-S3	cervix:
5	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
6	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
7	chr12:42537869..42538573-chr7:7221502..7222431,2	Hela-S3	cervix:
8	chr12:42537957..42540928-chr12:42622624..42625244,2	MCF-7	breast:
9	chr12:42531594..42533278-chr12:42535914..42538108,2	K562	blood:
10	chr12:42537704..42540061-chr12:42725418..42727107,2	K562	blood:
11	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
12	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
13	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
14	chr12:42536329..42538308-chr12:42715319..42718014,2	K562	blood:
15	chr12:42537508..42540547-chr12:42555328..42558210,3	MCF-7	breast:
16	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139168	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000269367	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000138286	Chromatin interaction
ENSG00000122882	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	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:42537000-42538200	Flanking Bivalent TSS/Enh	Dnd41	blood
7	chr12:42537000-42539000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:42537000-42539000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:42537000-42539000	Active TSS	NHLF	lung
10	chr12:42537000-42539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:42537000-42539200	Active TSS	Lung	lung
12	chr12:42537000-42539400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:42537000-42539600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:42537200-42538200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr12:42537200-42539000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:42537200-42539000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:42537200-42539200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:42537200-42539200	Active TSS	A549	lung
19	chr12:42537200-42539200	Active TSS	HSMMtube	muscle
20	chr12:42537200-42539400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:42537200-42539400	Active TSS	Left Ventricle	heart
22	chr12:42537200-42539400	Active TSS	Right Atrium	heart
23	chr12:42537400-42538200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:42537400-42538200	Bivalent/Poised TSS	HepG2	liver
25	chr12:42537400-42538800	Active TSS	HMEC	breast
26	chr12:42537400-42538800	Active TSS	NHDF-Ad	bronchial
27	chr12:42537400-42539000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:42537400-42539000	Active TSS	Fetal Intestine Small	intestine
29	chr12:42537400-42539000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr12:42537400-42539000	Active TSS	NHEK	skin
31	chr12:42537400-42539200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:42537400-42539200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:42537400-42539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:42537400-42539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:42537400-42539200	Active TSS	Aorta	Aorta
36	chr12:42537400-42539200	Active TSS	Esophagus	oesophagus
37	chr12:42537400-42539200	Active TSS	Ovary	ovary
38	chr12:42537400-42539200	Active TSS	Pancreas	Pancrea
39	chr12:42537400-42539400	Active TSS	Fetal Muscle Trunk	muscle
40	chr12:42537400-42539600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:42537400-42539600	Active TSS	Colonic Mucosa	Colon
42	chr12:42537400-42540000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:42537600-42538200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr12:42537600-42538400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:42537600-42538800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:42537600-42538800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:42537600-42539000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr12:42537600-42539000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42537600-42539000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:42537600-42539000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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