Variant report

Variant	rs58309134
Chromosome Location	chr12:121668796-121668797
allele	-/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121664973..121666491-chr12:121668545..121670113,2	K562	blood:
2	chr12:121666090..121669827-chr12:121670263..121674205,6	K562	blood:
3	chr12:121568885..121570905-chr12:121668306..121669817,2	MCF-7	breast:
4	chr12:121647335..121649645-chr12:121667084..121670803,3	MCF-7	breast:
5	chr12:121666865..121669227-chr12:121676180..121679076,2	MCF-7	breast:
6	chr12:121668796..121670934-chr12:121675457..121678613,3	MCF-7	breast:
7	chr12:121666946..121669221-chr12:121671524..121675627,4	K562	blood:
8	chr12:121552705..121555604-chr12:121668224..121669822,2	MCF-7	breast:
9	chr12:121664133..121666878-chr12:121668504..121670264,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction
ENSG00000089041	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
8	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
9	chr12:121653400-121673600	Weak transcription	Osteobl	bone
10	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
12	chr12:121653600-121670200	Weak transcription	NHDF-Ad	bronchial
13	chr12:121654800-121675200	Strong transcription	Fetal Stomach	stomach
14	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
15	chr12:121657000-121671600	Weak transcription	HUVEC	blood vessel
16	chr12:121657000-121676200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:121658200-121673600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:121658800-121671600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121661600-121675800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:121661600-121675800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:121661800-121671000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:121662000-121671000	Weak transcription	Aorta	Aorta
23	chr12:121662000-121673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:121662000-121673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:121662000-121676800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:121662000-121679000	Weak transcription	K562	blood
27	chr12:121662400-121676400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:121662600-121673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
30	chr12:121663200-121675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:121663600-121675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121664000-121676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121664400-121672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:121664400-121673600	Weak transcription	Fetal Lung	lung
35	chr12:121665400-121670800	Weak transcription	Small Intestine	intestine
36	chr12:121665600-121669800	Weak transcription	GM12878-XiMat	blood
37	chr12:121665600-121676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:121665800-121670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:121665800-121675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:121665800-121678600	Weak transcription	NH-A	brain
42	chr12:121666000-121676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:121666200-121672200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:121666400-121669200	Genic enhancers	Fetal Intestine Large	intestine
45	chr12:121666400-121669400	Genic enhancers	Placenta	Placenta
46	chr12:121666400-121675200	Strong transcription	Colonic Mucosa	Colon
47	chr12:121666400-121676200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:121666600-121679200	Strong transcription	Lung	lung
49	chr12:121667000-121672200	Strong transcription	Pancreas	Pancrea
50	chr12:121667000-121675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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