Variant report

Variant	rs139285718
Chromosome Location	chr12:120260007-120260008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120259219..120262251-chr12:120264646..120267569,3	K562	blood:
2	chr12:120254533..120258231-chr12:120258539..120262358,3	MCF-7	breast:
3	chr12:120255241..120258410-chr12:120258603..120261965,3	K562	blood:

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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120242600-120260200	Weak transcription	HUVEC	blood vessel
5	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
11	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:120245200-120273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:120245200-120276400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:120247000-120274600	Weak transcription	HMEC	breast
17	chr12:120247200-120274400	Weak transcription	NHEK	skin
18	chr12:120247200-120285800	Weak transcription	NHLF	lung
19	chr12:120247400-120264400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:120247800-120272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:120252000-120261600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:120253400-120266000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120253600-120266800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:120253800-120272400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:120254000-120261200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:120255800-120264600	Weak transcription	Osteobl	bone
30	chr12:120256000-120261200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:120256400-120263000	Weak transcription	Hela-S3	cervix
32	chr12:120256600-120268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
34	chr12:120257200-120260200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:120257200-120265800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:120257200-120270400	Weak transcription	Fetal Stomach	stomach
37	chr12:120257400-120263000	Weak transcription	GM12878-XiMat	blood
38	chr12:120257400-120277800	Weak transcription	Fetal Brain Female	brain
39	chr12:120257800-120260400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:120257800-120263000	Weak transcription	Thymus	Thymus
41	chr12:120257800-120270400	Weak transcription	HepG2	liver
42	chr12:120257800-120275000	Weak transcription	K562	blood
43	chr12:120258000-120260200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:120258000-120276600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:120258400-120261000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120258600-120261400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:120258600-120261400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:120258800-120263400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:120259000-120261400	Strong transcription	A549	lung
50	chr12:120259000-120273600	Strong transcription	Monocytes-CD14+_RO01746	blood

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