Variant report

Variant	rs4921648
Chromosome Location	chr8:19333013-19333014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19328304..19330762-chr8:19331773..19333660,2	MCF-7	breast:
2	chr8:19329451..19331430-chr8:19331849..19333988,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10105097	0.89[JPT][hapmap]
rs10503653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10888165	0.89[JPT][hapmap]
rs11204044	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11204046	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11204047	0.89[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs11204048	0.81[ASN][1000 genomes]
rs11204049	0.83[ASN][1000 genomes]
rs11204050	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11777566	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778734	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11783263	0.89[JPT][hapmap]
rs11786904	0.88[ASN][1000 genomes]
rs12682196	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13250181	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13261442	0.89[JPT][hapmap]
rs13261732	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13265751	0.94[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13266857	0.89[JPT][hapmap]
rs13267265	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13267569	0.87[ASN][1000 genomes]
rs13267801	0.88[ASN][1000 genomes]
rs13275706	0.88[ASN][1000 genomes]
rs13276417	0.89[JPT][hapmap]
rs17128525	0.89[JPT][hapmap]
rs17479777	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3185	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3923920	0.89[JPT][hapmap]
rs4072131	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4244451	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4244452	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4244453	0.89[JPT][hapmap]
rs4292704	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4311666	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4317590	0.89[JPT][hapmap]
rs4319111	0.89[JPT][hapmap]
rs4391455	0.85[ASN][1000 genomes]
rs4409408	0.81[CHB][hapmap]
rs4413788	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4442162	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4442163	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4455848	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4483172	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4484715	0.89[JPT][hapmap]
rs4513991	0.83[ASN][1000 genomes]
rs4524812	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540423	0.81[EUR][1000 genomes]
rs4554481	0.89[JPT][hapmap]
rs4599829	0.89[JPT][hapmap]
rs4614013	0.83[ASN][1000 genomes]
rs4631482	0.84[ASN][1000 genomes]
rs4921646	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4921647	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4921649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921651	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4921652	0.85[ASN][1000 genomes]
rs4921653	0.89[JPT][hapmap]
rs4921654	0.89[JPT][hapmap]
rs4921656	0.89[JPT][hapmap]
rs4921657	0.89[JPT][hapmap]
rs4922030	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4922034	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4922035	0.88[ASN][1000 genomes]
rs4922036	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4922037	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922038	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922039	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922041	0.83[ASN][1000 genomes]
rs4922044	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922045	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4922046	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4922047	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4922048	0.89[JPT][hapmap]
rs4922049	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs5013219	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586836	1.00[ASN][1000 genomes]
rs6586837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586838	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586839	0.89[JPT][hapmap]
rs6586840	0.89[JPT][hapmap]
rs6984449	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6984644	0.89[JPT][hapmap]
rs6986388	0.88[ASN][1000 genomes]
rs6991941	0.89[JPT][hapmap]
rs6994352	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998334	0.89[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs6999542	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7002357	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7005075	0.89[JPT][hapmap]
rs7006155	0.88[ASN][1000 genomes]
rs7011587	0.81[ASN][1000 genomes]
rs7017776	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7460541	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464357	0.84[ASN][1000 genomes]
rs7464358	0.84[ASN][1000 genomes]
rs7816777	0.89[JPT][hapmap]
rs7818691	0.83[ASN][1000 genomes]
rs7828025	0.81[CHB][hapmap]
rs7830404	0.89[JPT][hapmap]
rs7836239	0.86[ASN][1000 genomes]
rs7839041	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9644631	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19316200-19339200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
4	chr8:19324400-19334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:19325400-19335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:19325800-19335800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:19326800-19335000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:19328000-19337800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:19328200-19334000	Weak transcription	Right Atrium	heart
10	chr8:19328200-19334200	Weak transcription	Left Ventricle	heart
11	chr8:19329000-19334800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:19329000-19335000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:19329000-19335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:19329000-19335400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:19329000-19335400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:19329000-19335600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:19329000-19335600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:19330000-19334000	Weak transcription	NHLF	lung
19	chr8:19330000-19336200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:19330000-19338200	Weak transcription	Placenta	Placenta
21	chr8:19330400-19335000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:19330800-19334800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:19331000-19334000	Weak transcription	HSMM	muscle
24	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:19331800-19334200	Enhancers	Fetal Thymus	thymus
26	chr8:19332400-19333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:19332400-19334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:19332600-19333200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:19332600-19333200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:19332600-19333200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:19332600-19333400	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:19332600-19333600	Enhancers	Thymus	Thymus
33	chr8:19332600-19335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:19332600-19335000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:19332600-19335000	Genic enhancers	A549	lung
36	chr8:19332800-19333200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:19332800-19335000	Enhancers	Hela-S3	cervix
38	chr8:19333000-19333400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:19333000-19334000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:19333000-19334000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:19333000-19335200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:19333000-19337000	Enhancers	NHDF-Ad	bronchial
43	chr8:19333000-19339400	Enhancers	Primary T cells from cord blood	blood

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