Variant report

Variant	rs16831660
Chromosome Location	chr3:120506033-120506034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16831597	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16831695	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2220254	1.00[MEX][hapmap]
rs55866013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6799109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
4	chr3:120491600-120511000	Weak transcription	HMEC	breast
5	chr3:120492400-120510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:120494400-120511000	Weak transcription	K562	blood
7	chr3:120495400-120510200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:120496200-120510200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:120496600-120506200	Weak transcription	Fetal Brain Female	brain
10	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:120499600-120511000	Weak transcription	Hela-S3	cervix
12	chr3:120500200-120509200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:120500200-120511000	Weak transcription	NHLF	lung
14	chr3:120500400-120509200	Weak transcription	Ovary	ovary
15	chr3:120500400-120510600	Weak transcription	NHDF-Ad	bronchial
16	chr3:120500400-120511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:120500400-120511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:120500600-120509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:120500600-120509600	Weak transcription	Thymus	Thymus
20	chr3:120500600-120509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:120500600-120510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:120500600-120510800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:120500600-120510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:120500600-120511000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:120500600-120511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:120500600-120513000	Weak transcription	HepG2	liver
27	chr3:120501000-120513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:120501200-120511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:120501400-120510200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:120501400-120510200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:120501400-120510800	Weak transcription	HSMM	muscle
32	chr3:120501400-120511000	Weak transcription	NHEK	skin
33	chr3:120501400-120513800	Weak transcription	A549	lung
34	chr3:120501400-120514400	Weak transcription	Fetal Intestine Large	intestine
35	chr3:120501600-120506800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:120501600-120507600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:120501600-120508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:120501600-120508800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:120501600-120509600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:120501600-120510000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:120501600-120510000	Weak transcription	Primary T cells from cord blood	blood
42	chr3:120501600-120510200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:120501600-120510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:120501600-120511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:120501600-120513800	Weak transcription	Liver	Liver
46	chr3:120501800-120509800	Weak transcription	HUVEC	blood vessel
47	chr3:120501800-120510000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:120501800-120510800	Weak transcription	Osteobl	bone
49	chr3:120501800-120511000	Weak transcription	HSMMtube	muscle
50	chr3:120502200-120512000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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