Variant report

Variant	rs7588217
Chromosome Location	chr2:181988909-181988910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018326	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13010713	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1543177	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1568257	0.80[ASN][1000 genomes]
rs1949453	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4299301	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4508560	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4667083	0.92[ASN][1000 genomes]
rs56987708	0.92[ASN][1000 genomes]
rs6433894	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66912914	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6729509	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap]
rs6729682	0.85[ASN][1000 genomes]
rs6731186	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744620	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs908733	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3431632	chr2:181987257-181989255	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181985000-181990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:181986600-181989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:181987400-181989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr2:181988400-181989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:181988400-181989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:181988400-181989000	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:181988400-181989000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:181988400-181989000	Enhancers	HMEC	breast
9	chr2:181988400-181989200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:181988400-181989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:181988400-181989400	Active TSS	Primary T cells fromperipheralblood	blood
12	chr2:181988400-181989400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:181988400-181989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:181988400-181989600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:181988400-181989600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:181988400-181989600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:181988400-181989600	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:181988400-181989600	Enhancers	HUVEC	blood vessel
19	chr2:181988400-181989600	Enhancers	NH-A	brain
20	chr2:181988400-181989800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:181988400-181990200	Active TSS	Fetal Thymus	thymus
22	chr2:181988400-181991400	Flanking Active TSS	Dnd41	blood
23	chr2:181988400-181991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:181988600-181989000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:181988600-181989000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:181988600-181989000	Enhancers	NHEK	skin
27	chr2:181988600-181989000	Enhancers	NHLF	lung
28	chr2:181988600-181989200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:181988600-181989200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:181988600-181989400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:181988600-181989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:181988600-181989400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:181988600-181989600	Enhancers	HSMMtube	muscle
34	chr2:181988600-181989600	Enhancers	Osteobl	bone
35	chr2:181988600-181990200	Active TSS	Thymus	Thymus
36	chr2:181988600-181990400	Enhancers	HSMM	muscle
37	chr2:181988600-181990600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:181988600-181990800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:181988800-181989000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:181988800-181989200	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:181988800-181989600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:181988800-181989600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:181988800-181989600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:181988800-181991600	Flanking Active TSS	Primary T cells from cord blood	blood

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