Variant report

Variant	rs530316778
Chromosome Location	chr12:56120358-56120359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56113532-56124497	U87	brain:	n/a	n/a
2	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:56120298-56122466	U87	brain:	n/a	n/a
4	SP1	chr12:56120351-56120802	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:56113243-56124503	U87	brain:	n/a	n/a
6	POLR2A	chr12:56120252-56122128	U87	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
2	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
3	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
4	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
5	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:
6	chr12:56120240..56124369-chr12:56508983..56513755,7	K562	blood:
7	chr12:56119392..56124555-chr12:56134719..56139155,10	MCF-7	breast:
8	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
9	chr12:56119684..56120517-chr7:23338542..23339053,2	NB4	blood:
10	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258056	TF binding region
CD63	TF binding region
ENSG00000257449	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000156928	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000197728	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv559005	chr12:56117570-56120934	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv559006	chr12:56118833-56120934	Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv559007	chr12:56118833-56121194	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv559008	chr12:56119594-56121194	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv559009	chr12:56119683-56121194	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56111200-56120400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:56112800-56120800	Weak transcription	Fetal Brain Male	brain
3	chr12:56112800-56121000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:56113200-56120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:56114400-56121000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:56115000-56120400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:56115400-56120400	Genic enhancers	Fetal Intestine Large	intestine
8	chr12:56115400-56120400	Strong transcription	Fetal Stomach	stomach
9	chr12:56115400-56120600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:56115400-56121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:56115400-56121200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:56115600-56120400	Strong transcription	Lung	lung
13	chr12:56115600-56120600	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr12:56115600-56120800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr12:56116000-56120600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:56116200-56120400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:56116400-56120400	Genic enhancers	Fetal Intestine Small	intestine
18	chr12:56116600-56120400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:56116600-56120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:56116600-56120400	Genic enhancers	Adipose Nuclei	Adipose
21	chr12:56116600-56120400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:56116600-56120600	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:56116600-56120800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:56116600-56121800	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr12:56116600-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:56116800-56120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:56116800-56120600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:56116800-56120600	Genic enhancers	A549	lung
29	chr12:56116800-56120800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:56116800-56120800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:56116800-56120800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:56116800-56120800	Genic enhancers	Left Ventricle	heart
33	chr12:56116800-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:56117000-56120600	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr12:56117000-56120800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:56117000-56121200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:56117200-56120400	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr12:56117200-56120600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:56117200-56120600	Weak transcription	Primary T cells from cord blood	blood
40	chr12:56117200-56121400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:56117400-56120400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:56117400-56120400	Genic enhancers	NH-A	brain
43	chr12:56117400-56120600	Strong transcription	HUVEC	blood vessel
44	chr12:56117400-56121200	Enhancers	Fetal Heart	heart
45	chr12:56117600-56120400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:56117600-56120400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:56117600-56120400	Strong transcription	Dnd41	blood
48	chr12:56117600-56120600	Genic enhancers	Colon Smooth Muscle	Colon
49	chr12:56117600-56120600	Genic enhancers	Pancreas	Pancrea
50	chr12:56117600-56120800	Genic enhancers	Gastric	stomach

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