Variant report

Variant	rs2103132
Chromosome Location	chr7:69782073-69782074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10229027	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10229155	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10234614	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10234844	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10234892	0.92[EUR][1000 genomes]
rs10237530	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10237685	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244275	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10246631	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10251416	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10254839	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10256062	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10258298	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10258962	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10277411	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10280622	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10486874	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10486875	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10950199	0.93[EUR][1000 genomes]
rs11766329	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12112638	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155138	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12374873	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698895	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698897	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698899	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13221252	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13226923	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1357759	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404274	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464786	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1464787	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1464788	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1474368	0.84[ASN][1000 genomes]
rs1524518	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1880368	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2222544	0.92[EUR][1000 genomes]
rs2280613	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280614	0.86[EUR][1000 genomes]
rs2866277	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35303761	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846984	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460541	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460542	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460543	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6943555	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6953344	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6954715	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954837	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957740	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6967697	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6967986	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6969375	0.86[EUR][1000 genomes]
rs6976581	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7781401	0.90[EUR][1000 genomes]
rs7781727	0.90[EUR][1000 genomes]
rs7787612	0.90[EUR][1000 genomes]
rs7792775	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7792964	0.90[EUR][1000 genomes]
rs7798991	0.92[EUR][1000 genomes]
rs7799308	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7805470	0.81[ASN][1000 genomes]
rs8180850	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs870920	0.81[ASN][1000 genomes]
rs873835	0.81[ASN][1000 genomes]
rs9918496	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9918544	0.88[AMR][1000 genomes];0.98[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:45 , 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	chr7:69778200-69782600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:69778600-69789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:69778800-69782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:69779000-69783400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:69779000-69783600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:69779000-69784000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:69779200-69783600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:69779200-69783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:69779200-69784400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:69779400-69783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:69779400-69783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:69779400-69783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:69779600-69802200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:69780800-69785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:69781200-69784400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:69781400-69782400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:69781600-69782600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:69781600-69783800	Enhancers	Lung	lung
20	chr7:69781600-69784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:69781600-69784800	Enhancers	Dnd41	blood
22	chr7:69781800-69782200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:69781800-69782200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:69781800-69782200	Enhancers	Gastric	stomach
25	chr7:69781800-69782800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:69781800-69782800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:69781800-69782800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:69781800-69782800	Enhancers	Aorta	Aorta
29	chr7:69781800-69782800	Enhancers	NH-A	brain
30	chr7:69781800-69782800	Flanking Active TSS	NHEK	skin
31	chr7:69781800-69783000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:69781800-69783000	Enhancers	HMEC	breast
33	chr7:69781800-69783400	Enhancers	Pancreas	Pancrea
34	chr7:69781800-69783600	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:69781800-69783800	Enhancers	Esophagus	oesophagus
36	chr7:69781800-69784000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:69781800-69784400	Enhancers	Fetal Thymus	thymus
38	chr7:69782000-69782800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:69782000-69782800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:69782000-69782800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:69782000-69782800	Enhancers	Colon Smooth Muscle	Colon
42	chr7:69782000-69782800	Enhancers	Fetal Stomach	stomach
43	chr7:69782000-69782800	Enhancers	HSMMtube	muscle
44	chr7:69782000-69783800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:69782000-69788000	Weak transcription	Left Ventricle	heart

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