Variant report

Variant	rs17844785
Chromosome Location	chr12:56237663-56237664
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
2	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:
3	chr12:56237364..56240273-chr12:56321044..56322840,2	K562	blood:
4	chr12:56235299..56237964-chr12:56318777..56323177,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065357	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000205323	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13020	1.00[ASN][1000 genomes]
rs17117976	1.00[ASN][1000 genomes]
rs17844786	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17844787	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2231467	1.00[ASN][1000 genomes]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[ASN][1000 genomes]
rs715817	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs772258	1.00[ASN][1000 genomes]
rs7975037	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:56226800-56241400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56227600-56241200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:56229000-56240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:56230400-56241000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:56232400-56241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:56233600-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:56233600-56242400	Weak transcription	Spleen	Spleen
9	chr12:56236600-56241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:56236800-56238000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:56236800-56238000	Enhancers	Fetal Thymus	thymus
12	chr12:56236800-56239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56236800-56239200	Weak transcription	Esophagus	oesophagus
14	chr12:56236800-56240800	Weak transcription	Left Ventricle	heart
15	chr12:56236800-56241000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:56236800-56241200	Weak transcription	Gastric	stomach
17	chr12:56236800-56241400	Weak transcription	Aorta	Aorta
18	chr12:56236800-56242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:56236800-56242400	Weak transcription	Right Ventricle	heart
20	chr12:56236800-56242600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:56237000-56239400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:56237000-56240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:56237000-56240800	Weak transcription	A549	lung
24	chr12:56237000-56241000	Weak transcription	Ovary	ovary
25	chr12:56237000-56241400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:56237000-56241400	Weak transcription	Fetal Lung	lung
27	chr12:56237200-56238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:56237200-56238800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:56237200-56239000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:56237200-56239000	Weak transcription	NHDF-Ad	bronchial
31	chr12:56237200-56239200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:56237200-56239200	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:56237200-56239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:56237200-56240000	Weak transcription	Right Atrium	heart
35	chr12:56237200-56240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:56237200-56240800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:56237200-56240800	Weak transcription	Lung	lung
38	chr12:56237200-56240800	Weak transcription	HMEC	breast
39	chr12:56237200-56240800	Weak transcription	HSMMtube	muscle
40	chr12:56237200-56240800	Weak transcription	HUVEC	blood vessel
41	chr12:56237200-56241000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:56237200-56241200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:56237200-56241200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:56237200-56241400	Weak transcription	Hela-S3	cervix
45	chr12:56237200-56241600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:56237200-56241600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:56237200-56244000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:56237400-56237800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:56237400-56237800	Weak transcription	HSMM	muscle
50	chr12:56237400-56238800	Weak transcription	Muscle Satellite Cultured Cells	--

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