Variant report

Variant	rs16867114
Chromosome Location	chr2:180811840-180811841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180810446..180815338-chr2:180815849..180820323,6	K562	blood:
2	chr2:180808241..180810462-chr2:180810582..180812457,2	MCF-7	breast:
3	chr2:180810995..180812628-chr2:180815849..180818711,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1046356	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497555	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs12613483	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618422	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621365	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12623020	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693216	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16823586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867119	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	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16867133	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867136	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16867140	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs259808	0.95[ASN][1000 genomes]
rs262279	0.91[ASN][1000 genomes]
rs3738943	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3768837	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3768839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3845695	0.95[ASN][1000 genomes]
rs3845697	0.97[ASN][1000 genomes]
rs3845702	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3907347	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3912257	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3914458	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4893886	0.96[ASN][1000 genomes]
rs56213876	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6433822	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6726846	0.93[ASN][1000 genomes]
rs72958832	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72958838	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72958887	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72960663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960669	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72960671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72960679	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs818659	0.88[ASN][1000 genomes]
rs9989852	0.95[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
2	chr2:180796400-180815000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:180797000-180815800	Weak transcription	Right Ventricle	heart
4	chr2:180797400-180815200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
6	chr2:180798000-180813800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:180798000-180814200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:180798000-180816200	Weak transcription	Pancreas	Pancrea
9	chr2:180798200-180815000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:180798600-180816000	Weak transcription	Fetal Heart	heart
11	chr2:180799600-180813400	Weak transcription	HMEC	breast
12	chr2:180800000-180812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:180800200-180816200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:180801000-180813600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
16	chr2:180802000-180813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:180802000-180814400	Weak transcription	Fetal Brain Female	brain
18	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
19	chr2:180804000-180815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:180804200-180816200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:180805000-180816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:180805600-180812600	Weak transcription	NHEK	skin
23	chr2:180805600-180831800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:180806600-180813800	Weak transcription	Brain Germinal Matrix	brain
25	chr2:180807000-180819400	Strong transcription	Primary B cells from cord blood	blood
26	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:180807200-180816200	Weak transcription	Lung	lung
28	chr2:180807200-180816200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:180807400-180814000	Weak transcription	Hela-S3	cervix
30	chr2:180807400-180819200	Strong transcription	Adipose Nuclei	Adipose
31	chr2:180807800-180816000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:180807800-180820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:180807800-180820600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:180808200-180818200	Weak transcription	Colonic Mucosa	Colon
37	chr2:180808200-180840000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:180808400-180812400	Weak transcription	A549	lung
40	chr2:180808400-180812600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:180808400-180812800	Strong transcription	Liver	Liver
42	chr2:180808400-180813200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:180808400-180813800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:180808400-180816400	Weak transcription	Gastric	stomach
45	chr2:180808400-180819800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:180808400-180820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:180808400-180820800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:180808600-180816200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:180808600-180816200	Weak transcription	Small Intestine	intestine
50	chr2:180808600-180819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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