Variant report

Variant	rs715817
Chromosome Location	chr12:56230313-56230314
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: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	chr12:56211866..56213582-chr12:56229114..56231288,2	K562	blood:
2	chr12:56222332..56225809-chr12:56227507..56233140,8	K562	blood:
3	chr12:56227995..56231797-chr12:56232325..56238270,7	K562	blood:
4	chr12:56228843..56232382-chr12:56234016..56237333,4	K562	blood:
5	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
6	chr12:56229943..56232528-chr12:56333269..56336105,2	MCF-7	breast:
7	chr12:56229625..56231267-chr12:56332527..56334225,2	MCF-7	breast:
8	chr12:56225850..56228600-chr12:56228941..56231576,4	K562	blood:
9	chr12:56211186..56213582-chr12:56228063..56231288,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123342	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123353	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11834873	1.00[CHD][hapmap]
rs13020	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17117863	1.00[CHB][hapmap]
rs17117976	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17844785	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17844786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17844787	1.00[CHD][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2231467	1.00[ASN][1000 genomes]
rs2640568	1.00[CHD][hapmap]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs705697	1.00[CHD][hapmap]
rs772255	1.00[CHB][hapmap]
rs772258	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs772464	1.00[CHD][hapmap]
rs7975037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225200-56232000	Weak transcription	Aorta	Aorta
2	chr12:56225400-56230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:56225400-56236000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:56225400-56236000	Weak transcription	NHEK	skin
5	chr12:56225400-56236600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56225400-56237000	Weak transcription	GM12878-XiMat	blood
7	chr12:56225600-56235200	Weak transcription	NHDF-Ad	bronchial
8	chr12:56225600-56235400	Weak transcription	HSMMtube	muscle
9	chr12:56225600-56235800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:56225600-56236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:56225600-56236000	Weak transcription	NH-A	brain
12	chr12:56225800-56236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:56226000-56230400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:56226000-56230400	Weak transcription	HSMM	muscle
16	chr12:56226000-56235600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:56226000-56236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:56226200-56231200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:56226200-56231600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:56226200-56232200	Weak transcription	Placenta	Placenta
21	chr12:56226200-56233200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:56226200-56233200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:56226200-56234000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:56226200-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:56226200-56236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:56226200-56236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:56226400-56230400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:56226400-56231200	Strong transcription	Fetal Intestine Small	intestine
29	chr12:56226400-56233400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:56226400-56234800	Weak transcription	Colonic Mucosa	Colon
31	chr12:56226800-56234800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:56226800-56235800	Weak transcription	Fetal Lung	lung
33	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:56227000-56232200	Weak transcription	Pancreas	Pancrea
35	chr12:56227000-56233200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:56227000-56236000	Weak transcription	Right Ventricle	heart
37	chr12:56227000-56236200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:56227200-56233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:56227400-56230400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:56227400-56232000	Weak transcription	Gastric	stomach
41	chr12:56227400-56232200	Weak transcription	Lung	lung
42	chr12:56227400-56232600	Weak transcription	Fetal Brain Female	brain
43	chr12:56227400-56235400	Weak transcription	Right Atrium	heart
44	chr12:56227400-56236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:56227400-56236000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:56227400-56236000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:56227400-56236200	Weak transcription	Esophagus	oesophagus
48	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:56228000-56235000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:56228200-56231000	Strong transcription	Brain Germinal Matrix	brain

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