Variant report

Variant	rs370652093
Chromosome Location	chr12:117386175-117386176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
2	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
2	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117366600-117388400	Weak transcription	K562	blood
5	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
6	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
7	chr12:117381200-117390200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:117381400-117387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:117381400-117389600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:117381600-117386200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:117381600-117387200	Weak transcription	Fetal Brain Female	brain
13	chr12:117381600-117388000	Strong transcription	Fetal Intestine Large	intestine
14	chr12:117381600-117388600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:117381600-117390200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:117381600-117390400	Strong transcription	Primary T cells from cord blood	blood
17	chr12:117381600-117390800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:117381800-117386200	Strong transcription	A549	lung
19	chr12:117381800-117387200	Weak transcription	HMEC	breast
20	chr12:117381800-117387800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:117381800-117387800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:117381800-117389200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:117381800-117390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:117381800-117390200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:117381800-117390400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:117381800-117391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:117382000-117387600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:117382000-117388000	Strong transcription	Osteobl	bone
30	chr12:117382000-117388400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:117382000-117388600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:117382000-117391400	Strong transcription	Fetal Stomach	stomach
33	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
34	chr12:117382200-117387800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:117382400-117387800	Strong transcription	Fetal Intestine Small	intestine
36	chr12:117382400-117389400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:117382400-117390400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:117382400-117390600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:117382800-117386200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:117382800-117390200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:117383000-117387800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:117383000-117387800	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:117383000-117388200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:117383000-117389800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:117383000-117390200	Strong transcription	Adipose Nuclei	Adipose
47	chr12:117383000-117391000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:117383000-117391200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:117383000-117391400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:117383200-117386200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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