Variant report

Variant	rs16861323
Chromosome Location	chr2:174054568-174054569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12465665	1.00[EUR][1000 genomes]
rs16861266	0.81[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.94[EUR][1000 genomes]
rs16861269	0.94[EUR][1000 genomes]
rs16861279	0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs16861295	1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861304	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2053964	1.00[GIH][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs2119123	0.80[JPT][hapmap]
rs2119124	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289395	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739103	0.82[AMR][1000 genomes]
rs3754738	0.82[AMR][1000 genomes]
rs3769155	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769164	1.00[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769166	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3769175	0.85[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769176	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769179	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3769183	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769190	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3769206	0.94[EUR][1000 genomes]
rs3769208	0.94[EUR][1000 genomes]
rs3820832	0.82[AMR][1000 genomes]
rs4632313	0.82[CHD][hapmap];0.94[EUR][1000 genomes]
rs56676752	0.89[EUR][1000 genomes]
rs58407376	1.00[ASN][1000 genomes]
rs59935415	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61032750	0.94[EUR][1000 genomes]
rs61183795	0.96[ASN][1000 genomes]
rs6717067	0.99[ASN][1000 genomes]
rs6753354	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs73971702	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566222	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7571788	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:174046600-174055800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:174047600-174056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
12	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
14	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
17	chr2:174049400-174054800	Weak transcription	Dnd41	blood
18	chr2:174049400-174055800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:174049400-174056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:174049400-174058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:174049400-174060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:174049400-174060800	Weak transcription	Lung	lung
23	chr2:174049400-174060800	Weak transcription	Right Ventricle	heart
24	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
25	chr2:174049600-174056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:174049600-174056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:174049600-174062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
29	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:174049800-174062600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:174050000-174054600	Weak transcription	Psoas Muscle	Psoas
32	chr2:174050200-174062800	Weak transcription	HepG2	liver
33	chr2:174051000-174054600	Weak transcription	Fetal Thymus	thymus
34	chr2:174051600-174065200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:174052000-174056200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:174052000-174059600	Weak transcription	Aorta	Aorta
37	chr2:174052000-174063000	Weak transcription	Placenta	Placenta
38	chr2:174052200-174056000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:174052200-174056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:174052400-174055800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:174052400-174056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:174052800-174058600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:174052800-174063200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:174053000-174056400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:174053000-174057400	Strong transcription	Hela-S3	cervix
46	chr2:174053000-174065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:174053200-174054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:174053200-174055800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:174053200-174055800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:174053200-174058400	Weak transcription	HSMM	muscle

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