Variant report

Variant	rs7791110
Chromosome Location	chr7:12462918-12462919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081298	1.00[EUR][1000 genomes]
rs10224863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10225555	1.00[EUR][1000 genomes]
rs10227025	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232185	1.00[EUR][1000 genomes]
rs10232837	1.00[EUR][1000 genomes]
rs10233068	1.00[EUR][1000 genomes]
rs10237460	1.00[EUR][1000 genomes]
rs10237637	1.00[EUR][1000 genomes]
rs10240596	1.00[EUR][1000 genomes]
rs10242038	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10245022	1.00[EUR][1000 genomes]
rs10245998	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246516	1.00[EUR][1000 genomes]
rs10250215	1.00[EUR][1000 genomes]
rs10250410	1.00[EUR][1000 genomes]
rs10250861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251780	1.00[EUR][1000 genomes]
rs10253924	1.00[EUR][1000 genomes]
rs10255590	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10259433	1.00[EUR][1000 genomes]
rs10266459	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10266645	1.00[EUR][1000 genomes]
rs10267494	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270541	1.00[EUR][1000 genomes]
rs10277600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279760	0.90[AFR][1000 genomes]
rs10280210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13328318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17166002	1.00[EUR][1000 genomes]
rs28409186	1.00[EUR][1000 genomes]
rs28432320	1.00[EUR][1000 genomes]
rs28451348	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28575127	1.00[EUR][1000 genomes]
rs28806867	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56990442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57259822	1.00[EUR][1000 genomes]
rs58059818	1.00[EUR][1000 genomes]
rs58818488	1.00[EUR][1000 genomes]
rs59769625	1.00[EUR][1000 genomes]
rs6947477	1.00[EUR][1000 genomes]
rs6947818	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968985	1.00[EUR][1000 genomes]
rs6977974	1.00[EUR][1000 genomes]
rs6978326	1.00[EUR][1000 genomes]
rs73288165	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288192	1.00[EUR][1000 genomes]
rs73288195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290105	1.00[EUR][1000 genomes]
rs73290106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290454	1.00[EUR][1000 genomes]
rs73296310	1.00[EUR][1000 genomes]
rs73298535	1.00[EUR][1000 genomes]
rs73300543	1.00[EUR][1000 genomes]
rs73302462	1.00[EUR][1000 genomes]
rs73306910	1.00[EUR][1000 genomes]
rs73679942	1.00[EUR][1000 genomes]
rs7777458	1.00[EUR][1000 genomes]
rs7789032	1.00[EUR][1000 genomes]
rs7809959	1.00[EUR][1000 genomes]
rs847960	0.83[AFR][1000 genomes]
rs847962	0.83[AFR][1000 genomes]
rs847981	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
5	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv887635	chr7:12410112-12474635	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv516511	chr7:12439672-12479584	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv887639	chr7:12448482-12488535	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12458800-12463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:12461000-12463400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:12461200-12463400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:12461400-12463400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:12461400-12463400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:12461400-12463800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:12461600-12463000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:12461600-12463200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:12461600-12463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:12461600-12464000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:12461600-12464200	Enhancers	HMEC	breast
12	chr7:12461800-12464000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:12461800-12464000	Enhancers	HUVEC	blood vessel
14	chr7:12462000-12463400	Enhancers	Osteobl	bone
15	chr7:12462200-12463400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:12462200-12463600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:12462200-12463800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:12462400-12463000	Flanking Active TSS	A549	lung
19	chr7:12462400-12463400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:12462400-12463800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:12462400-12463800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:12462400-12463800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:12462400-12463800	Enhancers	HSMM	muscle
24	chr7:12462400-12463800	Enhancers	NHEK	skin
25	chr7:12462400-12464000	Enhancers	Hela-S3	cervix
26	chr7:12462400-12464000	Enhancers	NHDF-Ad	bronchial
27	chr7:12462400-12464200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:12462400-12464200	Enhancers	NH-A	brain
29	chr7:12462600-12463000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:12462600-12463200	Enhancers	NHLF	lung
31	chr7:12462600-12463800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:12462600-12463800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:12462800-12463200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:12462800-12463200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:12462800-12463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:12462800-12463800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links