Variant report

Variant	rs16894945
Chromosome Location	chr6:34824107-34824108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1125342	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12173920	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12175621	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12176092	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16894102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16894995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16895362	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16895467	0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16896235	0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs2236392	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273007	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2764199	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs2814950	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs2814965	0.84[ASN][1000 genomes]
rs2814998	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs2815003	0.94[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap]
rs3734260	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3734263	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3736896	0.85[ASN][1000 genomes]
rs3756857	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3756858	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3777751	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798349	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798351	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800447	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800449	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3800455	0.88[EUR][1000 genomes]
rs41438444	0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs4646923	0.87[ASN][1000 genomes]
rs56825685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56842618	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56987113	0.84[EUR][1000 genomes]
rs57338415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57608318	0.81[ASN][1000 genomes]
rs57637041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57645599	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57916801	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58643640	0.84[EUR][1000 genomes]
rs58654146	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58817410	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58833137	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59014029	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59851773	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59884600	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59952325	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60410089	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60439875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60509690	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60754257	0.82[EUR][1000 genomes]
rs6932930	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs6939345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs73413893	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73415706	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415742	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73415758	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415760	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415779	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415781	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73417752	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73417786	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73419615	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73419643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73419650	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73419656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73419658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73419660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73419689	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73421513	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73421527	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73421528	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs847849	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9348952	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9348954	0.83[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap]
rs9348955	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs9348956	0.93[CHB][hapmap];0.82[YRI][hapmap]
rs9348957	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs9357186	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9357189	0.93[CHB][hapmap]
rs9366871	1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9366873	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9368840	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9368842	0.94[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs9380471	0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9380472	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9394253	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9394257	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9394258	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9394259	0.83[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs9394265	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs9394267	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1016703	chr6:34784801-34827693	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
18	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34779400-34841000	Weak transcription	NH-A	brain
2	chr6:34786600-34838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34788200-34831800	Weak transcription	HUVEC	blood vessel
4	chr6:34788400-34826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:34788400-34826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:34788400-34830800	Weak transcription	Fetal Heart	heart
7	chr6:34790000-34825000	Weak transcription	Stomach Mucosa	stomach
8	chr6:34797400-34824600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:34800800-34825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:34803800-34824200	Weak transcription	Fetal Brain Male	brain
11	chr6:34804200-34824200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:34804400-34824800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:34804600-34826600	Weak transcription	NHEK	skin
14	chr6:34808000-34824200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:34808000-34824400	Weak transcription	A549	lung
16	chr6:34816800-34853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:34817400-34851200	Strong transcription	Fetal Thymus	thymus
18	chr6:34818200-34829600	Strong transcription	HepG2	liver
19	chr6:34818600-34832800	Strong transcription	Fetal Stomach	stomach
20	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:34818800-34829000	Strong transcription	Fetal Muscle Leg	muscle
22	chr6:34819000-34829400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:34819000-34832000	Strong transcription	Fetal Intestine Large	intestine
24	chr6:34819000-34833000	Strong transcription	Liver	Liver
25	chr6:34819000-34842600	Strong transcription	Fetal Intestine Small	intestine
26	chr6:34819200-34833400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr6:34819400-34831400	Weak transcription	Right Atrium	heart
28	chr6:34819800-34824200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:34819800-34825200	Weak transcription	Psoas Muscle	Psoas
30	chr6:34820000-34824200	Weak transcription	Pancreas	Pancrea
31	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:34820600-34825000	Weak transcription	NHLF	lung
33	chr6:34821000-34824200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:34822200-34829400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:34822400-34824200	Weak transcription	NHDF-Ad	bronchial
37	chr6:34822400-34826400	Strong transcription	K562	blood
38	chr6:34822400-34828800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:34822400-34829800	Strong transcription	Dnd41	blood
40	chr6:34822400-34831400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:34822600-34828600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:34822600-34829800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:34822600-34829800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr6:34822800-34828600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:34822800-34829000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:34822800-34829600	Strong transcription	Lung	lung
47	chr6:34822800-34829800	Strong transcription	Placenta	Placenta
48	chr6:34822800-34830000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr6:34822800-34833600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:34822800-34849400	Strong transcription	Monocytes-CD14+_RO01746	blood

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