Variant report

Variant	rs28541530
Chromosome Location	chr7:21531161-21531162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10269168	0.94[ASN][1000 genomes]
rs10272006	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11971316	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11983472	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12668354	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672629	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673975	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2158414	0.91[ASN][1000 genomes]
rs2282888	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2390539	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735440	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40245	0.89[AFR][1000 genomes]
rs41495348	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4397283	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4722031	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4722033	0.82[ASN][1000 genomes]
rs6461561	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6461562	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6461567	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6461568	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6948810	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6974974	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6978922	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7780553	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7781732	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7796796	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7798894	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7810841	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7811417	0.94[EUR][1000 genomes]
rs9639377	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9639378	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
3	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
4	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
5	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
6	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
8	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:21504000-21532800	Weak transcription	Lung	lung
12	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
14	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
17	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:21517400-21532200	Weak transcription	A549	lung
19	chr7:21518000-21532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:21518200-21532200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:21518200-21536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:21518200-21536400	Weak transcription	Fetal Kidney	kidney
23	chr7:21518800-21532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:21520800-21532000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:21521000-21532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:21521000-21532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
29	chr7:21522000-21533800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:21522400-21532200	Weak transcription	Adipose Nuclei	Adipose
31	chr7:21522800-21532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:21522800-21533000	Weak transcription	Liver	Liver
33	chr7:21524600-21532000	Weak transcription	Fetal Lung	lung
34	chr7:21526800-21536400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:21527000-21536200	Weak transcription	Psoas Muscle	Psoas
36	chr7:21528600-21531400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:21529400-21531400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:21529600-21531200	Strong transcription	Fetal Thymus	thymus
39	chr7:21529800-21531400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:21529800-21531400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:21529800-21531800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:21529800-21532200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:21529800-21534000	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr7:21529800-21539200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:21530000-21534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr7:21530400-21534200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr7:21530600-21531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:21530600-21531800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:21530600-21531800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:21530600-21532000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links