Variant report

Variant	rs2282928
Chromosome Location	chr7:50720320-50720321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50715514..50719677-chr7:50720020..50722419,4	K562	blood:
2	chr7:50714587..50717014-chr7:50719726..50721520,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10261940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238265	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12530592	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17133918	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17133922	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072235	0.83[ASN][1000 genomes]
rs2190495	0.96[CHB][hapmap]
rs2237442	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237448	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237452	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237455	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237457	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237460	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237462	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237465	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237467	0.98[ASN][1000 genomes]
rs2237468	0.86[ASN][1000 genomes]
rs2237471	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs2237472	0.82[ASN][1000 genomes]
rs2237473	0.80[ASN][1000 genomes]
rs2237478	0.80[ASN][1000 genomes]
rs2237479	0.80[ASN][1000 genomes]
rs2244347	0.91[CHB][hapmap]
rs2282926	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282929	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807547	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901371	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4504586	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830086	0.80[ASN][1000 genomes]
rs58587127	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593077	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737292	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792811	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7797159	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886822	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886823	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886137	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
2	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:50699600-50720400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:50700600-50722000	Weak transcription	Aorta	Aorta
5	chr7:50701000-50720400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:50701000-50733600	Weak transcription	A549	lung
7	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:50701200-50733600	Weak transcription	K562	blood
10	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:50705800-50724200	Weak transcription	NH-A	brain
12	chr7:50706400-50720400	Weak transcription	NHDF-Ad	bronchial
13	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:50706800-50724600	Weak transcription	Fetal Lung	lung
15	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:50707800-50727600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:50708200-50729400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:50709200-50727400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:50709600-50720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:50709800-50720800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:50709800-50720800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:50710000-50720600	Weak transcription	Adipose Nuclei	Adipose
23	chr7:50710000-50721800	Weak transcription	Esophagus	oesophagus
24	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:50710200-50729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:50713000-50725400	Weak transcription	Fetal Brain Female	brain
29	chr7:50713400-50721000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:50714400-50721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:50714800-50720800	Weak transcription	Psoas Muscle	Psoas
32	chr7:50714800-50724000	Weak transcription	NHLF	lung
33	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
34	chr7:50716200-50726000	Enhancers	Left Ventricle	heart
35	chr7:50716600-50720600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:50716600-50727800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
38	chr7:50717000-50720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:50717200-50720400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:50717200-50720800	Weak transcription	Gastric	stomach
41	chr7:50717200-50723800	Weak transcription	HUVEC	blood vessel
42	chr7:50717200-50724000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:50717200-50729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:50717600-50720800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:50717800-50720800	Weak transcription	HepG2	liver
46	chr7:50717800-50720800	Weak transcription	HSMM	muscle
47	chr7:50717800-50727200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:50718000-50720400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:50718200-50720600	Weak transcription	Right Atrium	heart
50	chr7:50718200-50720800	Weak transcription	Right Ventricle	heart

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