Variant report

Variant	rs829564
Chromosome Location	chr2:30694846-30694847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30672724..30675685-chr2:30694165..30695792,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs10865520	0.82[EUR][1000 genomes]
rs1096109	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11127278	0.82[AMR][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12468064	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252640	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1252651	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252654	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1525062	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1662946	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1869423	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs1869424	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1975555	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2123753	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2177698	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2593440	0.86[AMR][1000 genomes]
rs2593442	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2593443	0.89[AMR][1000 genomes]
rs2593448	0.89[AMR][1000 genomes]
rs2593455	0.85[AMR][1000 genomes]
rs2593474	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs2602767	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2602806	0.86[AMR][1000 genomes]
rs2602807	0.86[AMR][1000 genomes]
rs2602808	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs2609917	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2609924	0.89[AMR][1000 genomes]
rs2609925	0.89[AMR][1000 genomes]
rs2609926	0.83[AMR][1000 genomes]
rs2609943	0.89[AMR][1000 genomes]
rs2609945	0.93[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs3862977	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6731031	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6740440	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7566983	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7583211	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7591110	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs7592355	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7605994	0.81[EUR][1000 genomes]
rs829563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829565	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.82[EUR][1000 genomes]
rs829617	0.82[EUR][1000 genomes]
rs829618	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829619	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829620	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829622	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829630	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.82[EUR][1000 genomes]
rs829637	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829639	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829641	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829642	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829646	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.82[EUR][1000 genomes]
rs829661	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829664	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs829669	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829671	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829672	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829673	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829675	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829677	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829679	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829680	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829681	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829694	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829695	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829696	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829699	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs829700	0.90[ASN][1000 genomes]
rs829701	0.84[ASN][1000 genomes]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs866680	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs895665	0.86[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:30678400-30704200	Weak transcription	Fetal Stomach	stomach
4	chr2:30678600-30703800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:30678600-30710600	Weak transcription	NHLF	lung
6	chr2:30682400-30704400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:30688200-30697600	Weak transcription	Thymus	Thymus
8	chr2:30688200-30703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:30688400-30697200	Weak transcription	Right Ventricle	heart
10	chr2:30688400-30703400	Weak transcription	K562	blood
11	chr2:30688400-30703800	Weak transcription	Left Ventricle	heart
12	chr2:30688400-30704200	Weak transcription	Aorta	Aorta
13	chr2:30688400-30704600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:30688600-30695000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:30688600-30695200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:30688600-30710000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:30688800-30695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30691600-30695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:30693000-30697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:30693200-30695000	Weak transcription	Ovary	ovary
21	chr2:30693200-30697800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:30693200-30702000	Weak transcription	Fetal Intestine Small	intestine
23	chr2:30693200-30702200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:30693400-30695200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:30693600-30695000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:30693600-30704000	Weak transcription	A549	lung
27	chr2:30693600-30704000	Weak transcription	HepG2	liver
28	chr2:30693800-30695000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:30694200-30695800	Enhancers	Primary B cells from cord blood	blood
30	chr2:30694400-30695200	Enhancers	Fetal Heart	heart
31	chr2:30694400-30695600	Enhancers	GM12878-XiMat	blood
32	chr2:30694600-30695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:30694600-30695800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:30694600-30695800	Enhancers	NHDF-Ad	bronchial
35	chr2:30694800-30695000	Enhancers	Fetal Kidney	kidney
36	chr2:30694800-30695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:30694800-30695800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:30694800-30696000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:30694800-30696000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:30694800-30696000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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