Variant report

Variant	rs142239176
Chromosome Location	chr12:120304212-120304213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120302350..120306271-chr12:120306775..120309464,5	K562	blood:
2	chr12:120302511..120304719-chr12:120314276..120316054,2	MCF-7	breast:
3	chr12:120302681..120304881-chr12:120306791..120311781,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122966	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120259200-120311800	Strong transcription	Dnd41	blood
4	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:120272200-120306800	Weak transcription	HSMM	muscle
6	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
11	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
14	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
20	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:120289400-120305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:120289400-120305600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:120289400-120307600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:120289800-120304600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120293400-120313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:120293600-120313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:120294800-120314200	Weak transcription	Primary T cells from cord blood	blood
30	chr12:120295200-120314200	Weak transcription	Fetal Kidney	kidney
31	chr12:120295600-120305200	Weak transcription	HepG2	liver
32	chr12:120296000-120310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:120297400-120312200	Strong transcription	Fetal Stomach	stomach
34	chr12:120299200-120313400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:120299400-120312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:120299400-120313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:120300800-120311400	Strong transcription	Thymus	Thymus
38	chr12:120300800-120312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:120301000-120308200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:120301600-120307400	Strong transcription	A549	lung
41	chr12:120301600-120308200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:120301600-120308200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:120301600-120312400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:120301600-120313200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:120301600-120314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:120301800-120306400	Strong transcription	Osteobl	bone
47	chr12:120301800-120309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:120301800-120313400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:120301800-120314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:120302000-120313600	Strong transcription	Fetal Thymus	thymus

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