Variant report

Variant	rs191129375
Chromosome Location	chr12:122096856-122096857
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122086547..122088935-chr12:122095137..122096951,2	K562	blood:
2	chr12:122085089..122087408-chr12:122095683..122097284,2	K562	blood:
3	chr12:122096588..122098372-chr12:122100126..122101956,3	K562	blood:
4	chr12:122022812..122025052-chr12:122095729..122097350,2	K562	blood:
5	chr12:122095665..122097425-chr12:122100873..122103460,2	MCF-7	breast:
6	chr12:122017165..122019200-chr12:122095451..122098021,2	K562	blood:
7	chr12:122027393..122030554-chr12:122096277..122098532,3	K562	blood:
8	chr12:122062091..122065392-chr12:122094028..122098514,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256742	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000089094	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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122080400-122097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:122081000-122097000	Weak transcription	Fetal Lung	lung
3	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
5	chr12:122091200-122097000	Weak transcription	Lung	lung
6	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122095000-122097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:122095200-122097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:122095400-122102000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122095600-122097200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:122096000-122097800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:122096200-122098000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:122096400-122097400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr12:122096400-122097400	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:122096400-122097400	Flanking Active TSS	NHEK	skin
16	chr12:122096400-122097600	Flanking Active TSS	K562	blood
17	chr12:122096400-122097800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122096400-122097800	Enhancers	Stomach Mucosa	stomach
21	chr12:122096400-122098000	Flanking Active TSS	Dnd41	blood
22	chr12:122096600-122097000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:122096600-122097000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:122096600-122097000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:122096600-122097000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122096600-122097000	Active TSS	Colonic Mucosa	Colon
27	chr12:122096600-122097000	Flanking Active TSS	Esophagus	oesophagus
28	chr12:122096600-122097000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:122096600-122097200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:122096600-122097200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:122096600-122097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:122096600-122097200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr12:122096600-122097200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:122096600-122097200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:122096600-122097200	Active TSS	Brain Hippocampus Middle	brain
36	chr12:122096600-122097200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:122096600-122097200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:122096600-122097200	Enhancers	Fetal Intestine Large	intestine
39	chr12:122096600-122097200	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr12:122096600-122097200	Genic enhancers	Placenta	Placenta
41	chr12:122096600-122097200	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:122096600-122097200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:122096600-122097200	Enhancers	NH-A	brain
44	chr12:122096600-122097200	Flanking Active TSS	Osteobl	bone
45	chr12:122096600-122097400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:122096600-122097400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:122096600-122097400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122096600-122097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:122096600-122097400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:122096600-122097400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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