Variant report

Variant	rs16867119
Chromosome Location	chr2:180819978-180819979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180818336..180820804-chr2:180824627..180826999,2	K562	blood:
2	chr2:180819818..180820648-chr8:100810133..100810654,2	MCF-7	breast:
3	chr2:180810446..180815338-chr2:180815849..180820323,6	K562	blood:
4	chr2:180817808..180820267-chr2:180822152..180823709,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046356	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497555	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs12613483	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618422	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12621365	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623020	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12693216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16823586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867114	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867125	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16867133	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867136	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16867140	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259808	0.97[ASN][1000 genomes]
rs262279	0.89[ASN][1000 genomes]
rs3738943	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3768837	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3768839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3845695	0.97[ASN][1000 genomes]
rs3845697	0.95[ASN][1000 genomes]
rs3845702	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3907347	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3912257	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3914458	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4893886	0.98[ASN][1000 genomes]
rs56213876	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6433822	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6726846	0.91[ASN][1000 genomes]
rs72958832	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72958838	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72958887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960663	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72960669	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960671	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960679	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818659	0.87[ASN][1000 genomes]
rs9989852	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
2	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
3	chr2:180805600-180831800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:180807800-180820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180807800-180820600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:180808200-180840000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:180808400-180820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:180808400-180820800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:180808600-180831400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:180808800-180820200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
14	chr2:180809200-180820000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:180809200-180820400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:180809200-180823600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:180809200-180825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:180809600-180820000	Strong transcription	K562	blood
20	chr2:180809800-180820000	Strong transcription	Dnd41	blood
21	chr2:180810200-180830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:180810200-180830400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:180811200-180822200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:180811200-180856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:180811600-180820400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:180811600-180820600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:180812400-180820000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:180812400-180820400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:180812600-180820200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:180813400-180868200	Weak transcription	Stomach Mucosa	stomach
31	chr2:180813600-180820400	Strong transcription	Liver	Liver
32	chr2:180813800-180831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:180816000-180820200	Strong transcription	NHEK	skin
34	chr2:180816000-180820400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:180816600-180829000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:180816600-180847200	Weak transcription	Hela-S3	cervix
37	chr2:180816800-180829600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:180816800-180832000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:180816800-180835400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:180816800-180841800	Weak transcription	Small Intestine	intestine
41	chr2:180816800-180852800	Weak transcription	Lung	lung
42	chr2:180816800-180860400	Weak transcription	Right Ventricle	heart
43	chr2:180816800-180868400	Weak transcription	Pancreas	Pancrea
44	chr2:180816800-180869000	Weak transcription	Spleen	Spleen
45	chr2:180816800-180870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:180817000-180828600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:180817200-180822200	Weak transcription	Left Ventricle	heart
48	chr2:180817200-180822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:180817200-180828400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:180817200-180828800	Weak transcription	Thymus	Thymus

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