Variant report

Variant	rs41264588
Chromosome Location	chr1:185097959-185097960
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185097589..185099200-chr1:185100580..185102267,2	K562	blood:
2	chr1:185093263..185096920-chr1:185097304..185100679,5	K562	blood:
3	chr1:185097360..185099907-chr1:185110020..185112748,3	K562	blood:
4	chr1:185093263..185095350-chr1:185097304..185099171,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1008502	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1046592	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489581	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10797998	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911673	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10911674	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10911676	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911686	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12022419	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12023744	0.85[EUR][1000 genomes]
rs12025995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12026000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12028809	0.86[EUR][1000 genomes]
rs12030778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12030967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12031837	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12035073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12035433	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12037466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12037692	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12038919	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12039541	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12039657	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12041374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12043427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12043495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12043561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12043617	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12044161	0.85[EUR][1000 genomes]
rs12044997	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12045772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12046095	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12046202	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12046801	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12049293	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12086086	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401293	0.93[EUR][1000 genomes]
rs12404644	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408279	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12408500	0.88[EUR][1000 genomes]
rs12409926	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1407554	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16823740	0.83[ASN][1000 genomes]
rs16865296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2273881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2378958	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3766720	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766723	0.87[AMR][1000 genomes]
rs3806243	0.88[EUR][1000 genomes]
rs41264590	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56107433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61125463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61495015	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724103	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72724108	0.86[EUR][1000 genomes]
rs72739693	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72739698	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72739699	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72741807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72741808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72741816	0.88[EUR][1000 genomes]
rs72741817	0.84[EUR][1000 genomes]
rs72741819	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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 miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv872588	chr1:185081903-185117688	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185054400-185101800	Weak transcription	A549	lung
3	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:185073600-185115000	Weak transcription	NH-A	brain
8	chr1:185078800-185102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:185079800-185102000	Weak transcription	Small Intestine	intestine
10	chr1:185080000-185101000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:185082600-185100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:185082600-185101400	Weak transcription	Esophagus	oesophagus
13	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
14	chr1:185084200-185103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:185084200-185124400	Weak transcription	Right Ventricle	heart
16	chr1:185084600-185102400	Weak transcription	Aorta	Aorta
17	chr1:185084600-185104200	Weak transcription	Pancreas	Pancrea
18	chr1:185085000-185121400	Weak transcription	NHEK	skin
19	chr1:185085400-185125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:185086000-185101000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:185086000-185107000	Strong transcription	Liver	Liver
22	chr1:185086000-185120200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:185086200-185101000	Weak transcription	Thymus	Thymus
24	chr1:185086200-185101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:185086400-185098000	Strong transcription	Placenta	Placenta
26	chr1:185086400-185100000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:185086600-185099800	Strong transcription	Adipose Nuclei	Adipose
28	chr1:185086600-185100000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:185086800-185098000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:185087000-185125000	Weak transcription	Gastric	stomach
31	chr1:185087200-185101800	Weak transcription	HMEC	breast
32	chr1:185087600-185117000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:185087800-185104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:185088000-185098600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:185088000-185107800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:185088200-185099600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:185088200-185100200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:185088200-185120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:185088400-185100200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:185088600-185099400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:185088600-185099400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:185088600-185099600	Strong transcription	Primary B cells from cord blood	blood
43	chr1:185088600-185100200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:185088600-185101800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:185088600-185106400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:185088800-185099400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:185088800-185100000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:185089000-185099400	Weak transcription	Psoas Muscle	Psoas
49	chr1:185089200-185098400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:185089400-185098800	Weak transcription	NHLF	lung

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