Variant report

Variant	rs16866620
Chromosome Location	chr2:179914347-179914348
allele	A/G
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]
rs12620792	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12624252	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16823537	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16866607	0.92[ASN][1000 genomes]
rs16866619	0.95[ASN][1000 genomes]
rs16866650	1.00[CEU][hapmap]
rs2084222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894074	0.92[ASN][1000 genomes]
rs4894075	0.92[ASN][1000 genomes]
rs57240597	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57472904	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57581066	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57845968	0.92[ASN][1000 genomes]
rs60302921	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60580993	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60680232	0.91[ASN][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr2:179909400-179916000	Weak transcription	Spleen	Spleen
2	chr2:179909600-179916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:179910800-179915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:179911200-179914400	Weak transcription	Dnd41	blood
5	chr2:179911400-179914400	Weak transcription	Aorta	Aorta
6	chr2:179911600-179914800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179912000-179915200	Active TSS	Right Atrium	heart
8	chr2:179912400-179915400	Active TSS	Fetal Heart	heart
9	chr2:179912600-179914600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:179912600-179915000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:179912600-179915200	Active TSS	Right Ventricle	heart
12	chr2:179912600-179915600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:179912600-179915600	Active TSS	HSMMtube	muscle
14	chr2:179912600-179916200	Enhancers	Fetal Kidney	kidney
15	chr2:179912800-179914800	Active TSS	Left Ventricle	heart
16	chr2:179912800-179915000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:179912800-179915200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr2:179912800-179916000	Active TSS	Fetal Muscle Trunk	muscle
19	chr2:179913200-179914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:179913200-179915000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:179913200-179915200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:179913200-179915200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr2:179913400-179914400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr2:179913400-179914400	Weak transcription	Stomach Mucosa	stomach
25	chr2:179913400-179914800	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:179913400-179915000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:179913400-179916400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:179913400-179916400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:179913600-179914400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:179913600-179914800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:179913600-179915000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:179913600-179915000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:179913600-179915200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:179913600-179917000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:179913800-179914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:179913800-179914800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:179913800-179915000	Active TSS	Primary T cells fromperipheralblood	blood
38	chr2:179913800-179915000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr2:179913800-179915000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:179913800-179915200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:179913800-179915200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:179913800-179915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:179913800-179916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:179913800-179916200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:179913800-179916200	Enhancers	Fetal Lung	lung
46	chr2:179914000-179914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:179914000-179914400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:179914000-179914400	Active TSS	Adipose Nuclei	Adipose
49	chr2:179914000-179914400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:179914000-179914600	Active TSS	Rectal Mucosa Donor 31	rectum

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