Variant report

Variant	rs12046095
Chromosome Location	chr1:185107170-185107171
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185099798..185103088-chr1:185104012..185107773,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1008502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10453829	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1046592	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10489579	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10489581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10797998	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911673	0.86[AFR][1000 genomes]
rs10911674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10911676	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10911682	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911686	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12022419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023744	0.90[EUR][1000 genomes]
rs12025995	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026000	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028809	0.90[EUR][1000 genomes]
rs12030761	0.86[ASN][1000 genomes]
rs12030778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030967	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12031837	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035433	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037466	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12039541	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039657	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12041374	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043561	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12043617	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12044161	0.90[EUR][1000 genomes]
rs12044997	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12045772	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046202	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12046801	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12049293	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12086086	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12401293	0.97[EUR][1000 genomes]
rs12404644	0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12408279	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12408500	0.93[EUR][1000 genomes]
rs12409926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1407554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415072	0.89[CHB][hapmap]
rs1544052	0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16865296	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050566	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2146328	0.89[CHB][hapmap]
rs2273881	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3766720	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806243	0.93[EUR][1000 genomes]
rs41264588	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41264590	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107433	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61125463	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61495015	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674490	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs6684586	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6698122	0.86[JPT][hapmap]
rs72724103	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72724108	0.90[EUR][1000 genomes]
rs72739693	0.83[AFR][1000 genomes]
rs72739698	0.81[AFR][1000 genomes]
rs72739699	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72741807	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72741808	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72741816	0.93[EUR][1000 genomes]
rs72741817	0.88[EUR][1000 genomes]
rs72741819	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv548397	chr1:185104842-185123630	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:185073600-185115000	Weak transcription	NH-A	brain
5	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
6	chr1:185084200-185124400	Weak transcription	Right Ventricle	heart
7	chr1:185085000-185121400	Weak transcription	NHEK	skin
8	chr1:185085400-185125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:185086000-185120200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:185087000-185125000	Weak transcription	Gastric	stomach
11	chr1:185087600-185117000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:185088000-185107800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:185088200-185120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:185089400-185124400	Weak transcription	Colonic Mucosa	Colon
15	chr1:185089600-185121400	Weak transcription	Stomach Mucosa	stomach
16	chr1:185091200-185121400	Weak transcription	Fetal Heart	heart
17	chr1:185093800-185113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:185093800-185117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:185094000-185110800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:185094000-185113000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:185094200-185116600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:185094200-185118400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:185096600-185121400	Weak transcription	Hela-S3	cervix
24	chr1:185100000-185110800	Weak transcription	NHLF	lung
25	chr1:185100800-185111200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:185101000-185121000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:185101400-185108600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:185101600-185125200	Weak transcription	Esophagus	oesophagus
29	chr1:185101800-185120200	Strong transcription	Adipose Nuclei	Adipose
30	chr1:185101800-185120800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:185102000-185120800	Strong transcription	Placenta	Placenta
32	chr1:185102200-185109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:185102400-185108800	Strong transcription	Left Ventricle	heart
34	chr1:185102400-185110600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:185102400-185113400	Weak transcription	HUVEC	blood vessel
36	chr1:185102400-185120600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:185102400-185121400	Weak transcription	HMEC	breast
38	chr1:185102400-185124400	Weak transcription	Brain Germinal Matrix	brain
39	chr1:185102600-185108400	Weak transcription	Fetal Kidney	kidney
40	chr1:185102600-185124400	Weak transcription	Fetal Brain Male	brain
41	chr1:185102600-185124400	Weak transcription	Small Intestine	intestine
42	chr1:185102800-185111800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:185102800-185112400	Weak transcription	Dnd41	blood
44	chr1:185102800-185117400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:185102800-185121200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:185102800-185125000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:185103000-185108600	Strong transcription	Osteobl	bone
48	chr1:185103000-185110600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:185103000-185113600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:185103000-185116600	Weak transcription	Fetal Brain Female	brain

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