Variant report

Variant	rs4971095
Chromosome Location	chr1:155606224-155606225
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	chr1:155605649..155607363-chr1:155609157..155610768,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10752611	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs10796945	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10908469	0.92[JPT][hapmap]
rs10908470	0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes]
rs10908471	0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs10908472	0.91[EUR][1000 genomes]
rs10908479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908481	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11264371	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11264372	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11264375	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11264380	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs11264381	0.85[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs11264383	0.91[EUR][1000 genomes]
rs11264386	0.94[EUR][1000 genomes]
rs11264387	0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs11264393	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264397	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264398	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022088	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12030596	0.89[EUR][1000 genomes]
rs12035524	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12039893	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040100	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041534	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12047626	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12047756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12079134	0.92[JPT][hapmap]
rs12093350	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143948	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12724079	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12740629	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12744132	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12746592	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs12758945	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1325908	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1360554	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1556488	0.81[JPT][hapmap]
rs2048431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2175391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2666826	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34124416	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34620961	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34632540	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs348186	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs348192	0.80[AMR][1000 genomes]
rs348196	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35615695	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3738590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851912	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3892792	0.81[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes]
rs4550031	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs475550	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6427278	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6427286	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs644853	0.84[JPT][hapmap]
rs6672128	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6684889	0.82[JPT][hapmap]
rs6688636	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6696888	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs670876	0.91[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs678157	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs708611	0.85[CHB][hapmap]
rs7411786	0.86[EUR][1000 genomes]
rs7521594	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7541060	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs821551	0.91[JPT][hapmap]
rs860295	0.85[CHB][hapmap];0.82[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	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers 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 lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv3043	chr1:155574054-155608574	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
12	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4971095	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs4971095	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155595000-155613000	Weak transcription	Osteobl	bone
2	chr1:155595600-155607000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:155603000-155611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:155605000-155618000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155605400-155613000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:155605600-155606400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:155605600-155606400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:155605600-155606400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:155605600-155606400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:155605600-155606400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:155605600-155606400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:155605600-155606400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:155605600-155606400	Enhancers	Liver	Liver
14	chr1:155605600-155606600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:155605600-155606600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:155605600-155606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:155605600-155606600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:155605600-155606600	Enhancers	A549	lung
19	chr1:155605600-155606800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:155605600-155606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:155605600-155606800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:155605600-155606800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:155605600-155607000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:155605600-155607000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:155605600-155607000	Enhancers	Placenta	Placenta
26	chr1:155605600-155607000	Enhancers	K562	blood
27	chr1:155605600-155607400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:155605600-155607400	Enhancers	HepG2	liver
29	chr1:155605800-155606400	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:155605800-155606400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:155605800-155606400	Active TSS	GM12878-XiMat	blood
32	chr1:155605800-155606600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:155605800-155606600	Enhancers	Primary T cells from cord blood	blood
34	chr1:155605800-155606600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:155605800-155607000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:155605800-155607000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:155605800-155607000	Enhancers	Right Ventricle	heart
38	chr1:155605800-155607000	Enhancers	Spleen	Spleen
39	chr1:155605800-155607200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:155605800-155607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:155605800-155607400	Enhancers	Small Intestine	intestine
42	chr1:155605800-155607400	Enhancers	Stomach Mucosa	stomach
43	chr1:155605800-155607800	Flanking Active TSS	Dnd41	blood
44	chr1:155606000-155606400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:155606000-155606400	Enhancers	Primary B cells from cord blood	blood
46	chr1:155606000-155606800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr1:155606000-155607000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:155606000-155607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:155606000-155607400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:155606000-155609400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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