Variant report

Variant	rs142978469
Chromosome Location	chr12:120281188-120281189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120274242..120277869-chr12:120277898..120281203,3	K562	blood:

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	nsv975612	chr12:120279837-120287876	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:81 , 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	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
5	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120247200-120285800	Weak transcription	NHLF	lung
9	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
13	chr12:120259200-120311800	Strong transcription	Dnd41	blood
14	chr12:120260600-120285800	Weak transcription	NH-A	brain
15	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
16	chr12:120265200-120301800	Weak transcription	Osteobl	bone
17	chr12:120266400-120289200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
20	chr12:120272200-120306800	Weak transcription	HSMM	muscle
21	chr12:120272400-120285400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:120274600-120281200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:120275600-120285800	Weak transcription	NHEK	skin
26	chr12:120275600-120288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:120275800-120288000	Weak transcription	HMEC	breast
28	chr12:120275800-120290400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:120276200-120283200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:120276400-120284800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:120276400-120291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:120276400-120292000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:120276600-120281800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:120276600-120297400	Strong transcription	Thymus	Thymus
38	chr12:120277000-120288400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120277000-120291200	Strong transcription	Fetal Thymus	thymus
40	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
42	chr12:120277200-120285800	Weak transcription	Hela-S3	cervix
43	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:120278000-120281400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:120278600-120283800	Weak transcription	GM12878-XiMat	blood
48	chr12:120278600-120284800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
50	chr12:120279000-120281200	Strong transcription	K562	blood

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