Variant report

Variant	rs28601694
Chromosome Location	chr7:112483606-112483607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10227777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268162	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112671	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160084	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868588	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584529	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28624855	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2905281	1.00[EUR][1000 genomes]
rs2905282	1.00[EUR][1000 genomes]
rs6964755	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341402	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715667	1.00[EUR][1000 genomes]
rs73715677	1.00[EUR][1000 genomes]
rs73718117	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73718119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718130	1.00[EUR][1000 genomes]
rs73718137	1.00[EUR][1000 genomes]
rs7778342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112460800-112486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
3	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
4	chr7:112470600-112485800	Weak transcription	Fetal Heart	heart
5	chr7:112470800-112490200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:112470800-112493000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:112470800-112498000	Weak transcription	Fetal Kidney	kidney
8	chr7:112470800-112502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:112470800-112506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:112470800-112533200	Weak transcription	HSMM	muscle
11	chr7:112471800-112495400	Weak transcription	Left Ventricle	heart
12	chr7:112471800-112502000	Weak transcription	Fetal Stomach	stomach
13	chr7:112471800-112511200	Weak transcription	HSMMtube	muscle
14	chr7:112471800-112545200	Weak transcription	Ovary	ovary
15	chr7:112472000-112487800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:112472000-112491600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:112472000-112492200	Weak transcription	Fetal Lung	lung
18	chr7:112472000-112497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:112472000-112506400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:112472200-112487600	Weak transcription	Fetal Intestine Small	intestine
22	chr7:112472200-112493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:112472200-112517800	Weak transcription	Osteobl	bone
25	chr7:112472400-112489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:112472600-112487800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:112472600-112503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:112472800-112505400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:112478400-112491200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:112478400-112506400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:112479200-112490200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:112479200-112492000	Weak transcription	Primary B cells from cord blood	blood
34	chr7:112479600-112493600	Weak transcription	Primary T cells from cord blood	blood
35	chr7:112482600-112484000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:112482800-112484000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:112482800-112484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:112483000-112484400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:112483200-112484400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:112483200-112493600	Weak transcription	Small Intestine	intestine
41	chr7:112483400-112484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:112483600-112484200	Enhancers	HUES6 Cell Line	embryonic stem cell

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