Variant report

Variant	rs1404274
Chromosome Location	chr7:69784370-69784371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10229027	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10229155	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10234614	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10234844	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10234892	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10235487	0.81[ASN][1000 genomes]
rs10235781	0.83[ASN][1000 genomes]
rs10237530	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10237685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10244275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10246631	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251416	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256062	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10258298	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258962	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10268924	0.84[ASN][1000 genomes]
rs10277411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280622	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1035010	0.81[ASN][1000 genomes]
rs10486874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10486875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950199	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11766329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112638	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155138	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12374873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698855	0.81[ASN][1000 genomes]
rs12698871	0.84[ASN][1000 genomes]
rs12698895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13221252	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13226923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13228123	0.81[ASN][1000 genomes]
rs1357759	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464786	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464788	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1474368	0.89[ASN][1000 genomes]
rs1524518	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1880368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103132	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2222544	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2280613	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280614	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2866277	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35303761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3846984	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6460537	0.84[ASN][1000 genomes]
rs6460541	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460542	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6460543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651055	0.84[ASN][1000 genomes]
rs6943555	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950647	0.84[ASN][1000 genomes]
rs6953344	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6954715	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6954837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6957740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6961345	0.84[ASN][1000 genomes]
rs6967697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967986	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6969375	0.87[EUR][1000 genomes]
rs6975279	0.84[ASN][1000 genomes]
rs6976581	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781401	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7781727	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7784584	0.82[ASN][1000 genomes]
rs7787612	0.91[EUR][1000 genomes]
rs7790729	0.84[ASN][1000 genomes]
rs7792775	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792964	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7796080	0.84[ASN][1000 genomes]
rs7798991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7799308	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7805470	0.85[ASN][1000 genomes]
rs8180850	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs870920	0.85[ASN][1000 genomes]
rs873835	0.85[ASN][1000 genomes]
rs9918496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9918544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv607431	chr7:69699074-69828729	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1028870	chr7:69742438-69879231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69776000-69786600	Enhancers	Primary T cells from cord blood	blood
2	chr7:69778600-69789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:69779200-69784400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:69779600-69802200	Weak transcription	Primary B cells from cord blood	blood
5	chr7:69780800-69785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:69781200-69784400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:69781600-69784800	Enhancers	Dnd41	blood
8	chr7:69781800-69784400	Enhancers	Fetal Thymus	thymus
9	chr7:69782000-69788000	Weak transcription	Left Ventricle	heart
10	chr7:69782800-69784400	Weak transcription	Aorta	Aorta
11	chr7:69782800-69785400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:69782800-69786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69782800-69786200	Weak transcription	Gastric	stomach
14	chr7:69782800-69787600	Weak transcription	Fetal Stomach	stomach
15	chr7:69782800-69787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:69782800-69790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:69782800-69790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:69783000-69785600	Weak transcription	NHEK	skin
19	chr7:69783000-69785800	Weak transcription	HMEC	breast
20	chr7:69783000-69790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:69783400-69784800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:69783400-69785000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:69783400-69785800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:69783600-69784400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:69783600-69785200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:69783800-69784400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:69783800-69784600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:69783800-69784800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:69783800-69784800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:69783800-69785000	Enhancers	Colon Smooth Muscle	Colon
31	chr7:69783800-69785400	Weak transcription	Brain Anterior Caudate	brain
32	chr7:69783800-69785800	Weak transcription	Esophagus	oesophagus
33	chr7:69783800-69787800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:69784000-69785000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:69784000-69785200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:69784000-69785400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:69784000-69785600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:69784000-69785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:69784200-69784600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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