Variant report

Variant	rs17594309
Chromosome Location	chr2:33702506-33702507
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11695726	1.00[ASW][hapmap]
rs17013095	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4280440	0.82[MEX][hapmap]
rs4528735	0.82[EUR][1000 genomes]
rs4670574	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33700600-33702600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:33700600-33702600	Active TSS	Fetal Muscle Trunk	muscle
3	chr2:33700600-33702600	Active TSS	Left Ventricle	heart
4	chr2:33700600-33702600	Active TSS	Psoas Muscle	Psoas
5	chr2:33700600-33702800	Flanking Active TSS	HUVEC	blood vessel
6	chr2:33700600-33703000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:33700600-33703000	Active TSS	Right Atrium	heart
8	chr2:33700600-33703200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:33700600-33703400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr2:33700600-33703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:33700600-33703400	Active TSS	Right Ventricle	heart
12	chr2:33700800-33702600	Active TSS	Brain Hippocampus Middle	brain
13	chr2:33700800-33702600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:33700800-33702800	Active TSS	Brain Anterior Caudate	brain
15	chr2:33700800-33702800	Active TSS	Brain Substantia Nigra	brain
16	chr2:33700800-33702800	Active TSS	Placenta	Placenta
17	chr2:33700800-33703000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:33700800-33703200	Active TSS	Brain Angular Gyrus	brain
19	chr2:33700800-33703400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:33700800-33703400	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:33700800-33705600	Active TSS	GM12878-XiMat	blood
22	chr2:33701000-33702800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:33701000-33702800	Active TSS	Pancreas	Pancrea
24	chr2:33701000-33703000	Active TSS	Primary B cells from peripheral blood	blood
25	chr2:33701000-33703000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:33701200-33704000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:33701600-33702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:33701800-33702600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:33701800-33702600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:33701800-33702600	Weak transcription	Spleen	Spleen
31	chr2:33701800-33702800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:33701800-33702800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:33701800-33702800	Flanking Active TSS	Dnd41	blood
34	chr2:33701800-33703400	Flanking Active TSS	Fetal Heart	heart
35	chr2:33701800-33703400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr2:33701800-33703400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:33701800-33704800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr2:33702000-33702600	Weak transcription	Esophagus	oesophagus
39	chr2:33702000-33702600	Weak transcription	Lung	lung
40	chr2:33702000-33702800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:33702000-33702800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:33702000-33702800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:33702000-33702800	Bivalent Enhancer	HepG2	liver
44	chr2:33702000-33703000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:33702000-33703000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr2:33702000-33703000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:33702000-33703200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:33702000-33704400	Weak transcription	Gastric	stomach
49	chr2:33702200-33702600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:33702200-33702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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