Variant report

Variant	rs3744453
Chromosome Location	chr17:45382870-45382871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45375988..45378357-chr17:45379217..45383019,3	K562	blood:
2	chr17:45382065..45383991-chr17:45399117..45400961,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10514928	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs11649785	0.86[ASN][1000 genomes]
rs11867589	1.00[YRI][hapmap]
rs11869487	1.00[YRI][hapmap]
rs11869768	1.00[YRI][hapmap]
rs11870948	1.00[YRI][hapmap]
rs11871031	1.00[YRI][hapmap]
rs11871477	1.00[YRI][hapmap]
rs12051702	1.00[YRI][hapmap]
rs12051709	1.00[YRI][hapmap]
rs16941768	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1806687	0.81[ASN][1000 genomes]
rs3956021	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs55845779	0.84[ASN][1000 genomes]
rs55846810	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56187467	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56194063	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56225350	0.82[ASN][1000 genomes]
rs57711420	0.83[ASN][1000 genomes]
rs58365772	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58568239	0.83[ASN][1000 genomes]
rs58611856	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58847127	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58875262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217214	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs72825640	0.83[ASN][1000 genomes]
rs72825642	0.83[ASN][1000 genomes]
rs72825645	0.83[ASN][1000 genomes]
rs72825648	0.83[ASN][1000 genomes]
rs73324412	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077042	0.81[ASN][1000 genomes]
rs884696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs951351	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs988684	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45383600	Weak transcription	Gastric	stomach
5	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
6	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
9	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:45377200-45383400	Weak transcription	Pancreas	Pancrea
12	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
13	chr17:45380200-45383000	Weak transcription	Fetal Lung	lung
14	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:45380400-45387800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:45381200-45383800	Enhancers	NHDF-Ad	bronchial
17	chr17:45381400-45383800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:45381400-45392600	Weak transcription	Liver	Liver
19	chr17:45381600-45383800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:45381600-45384000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45381600-45384400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:45381800-45384600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:45381800-45387400	Weak transcription	Placenta	Placenta
24	chr17:45381800-45387600	Weak transcription	Fetal Intestine Large	intestine
25	chr17:45381800-45392800	Weak transcription	Left Ventricle	heart
26	chr17:45382200-45383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:45382200-45384000	Enhancers	NHLF	lung
28	chr17:45382200-45385000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:45382200-45385200	Enhancers	Hela-S3	cervix
30	chr17:45382400-45383600	Enhancers	Rectal Smooth Muscle	rectum
31	chr17:45382400-45383600	Enhancers	GM12878-XiMat	blood
32	chr17:45382400-45383800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:45382400-45383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:45382400-45383800	Enhancers	Stomach Mucosa	stomach
35	chr17:45382400-45383800	Enhancers	HSMM	muscle
36	chr17:45382400-45383800	Enhancers	HSMMtube	muscle
37	chr17:45382400-45383800	Enhancers	Osteobl	bone
38	chr17:45382400-45384000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:45382400-45384000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr17:45382400-45384000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:45382400-45385000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:45382400-45385000	Enhancers	HMEC	breast
43	chr17:45382600-45383000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:45382600-45383000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:45382600-45383000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr17:45382600-45383000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr17:45382600-45383000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr17:45382600-45383000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:45382600-45383000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45382600-45383000	Genic enhancers	Fetal Muscle Leg	muscle

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