Variant report

Variant	rs16830964
Chromosome Location	chr2:153208493-153208494
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10497096	0.82[CEU][hapmap]
rs10497100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931062	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185697	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614451	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs13004494	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005848	0.87[ASN][1000 genomes]
rs13008702	0.82[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs13022422	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13023506	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023659	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029981	0.87[ASN][1000 genomes]
rs16830853	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16830878	0.87[ASN][1000 genomes]
rs16830885	0.87[ASN][1000 genomes]
rs16830971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831007	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16831009	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16831018	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs16831034	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs2345902	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs34104978	0.87[ASN][1000 genomes]
rs34288092	0.91[ASN][1000 genomes]
rs34581620	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34635752	0.92[EUR][1000 genomes]
rs35403838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589946	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771051	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35886923	0.87[ASN][1000 genomes]
rs35937195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664101	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664107	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs4664571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664576	0.81[AMR][1000 genomes]
rs57720755	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417219	0.87[EUR][1000 genomes]
rs71417220	0.85[EUR][1000 genomes]
rs73967829	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73967831	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73970604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573890	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574699	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7588008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602756	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
3	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:153194600-153214600	Weak transcription	Gastric	stomach
6	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
8	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
10	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
12	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:153200600-153210400	Weak transcription	Ovary	ovary
15	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:153200800-153209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:153200800-153210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:153200800-153210400	Weak transcription	NHDF-Ad	bronchial
19	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
20	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
23	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
25	chr2:153202400-153211000	Weak transcription	NHEK	skin
26	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
27	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
29	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:153204400-153209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:153205200-153209600	Weak transcription	A549	lung
32	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:153205200-153210600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:153205200-153211400	Weak transcription	Adipose Nuclei	Adipose
35	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:153205400-153210200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:153205400-153223800	Weak transcription	HMEC	breast
38	chr2:153206200-153208600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:153206400-153210800	Weak transcription	Fetal Brain Female	brain
40	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
41	chr2:153206800-153210600	Weak transcription	Fetal Brain Male	brain
42	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
43	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:153207000-153209200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:153207000-153214400	Weak transcription	Lung	lung
46	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:153207200-153208600	Weak transcription	Brain Anterior Caudate	brain
48	chr2:153207200-153209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:153207200-153209800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:153207200-153210200	Enhancers	HepG2	liver

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