Variant report

Variant	rs28680723
Chromosome Location	chr4:76677785-76677786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76670707..76672414-chr4:76675811..76678337,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10031352	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031616	0.81[AFR][1000 genomes]
rs11097112	0.82[AFR][1000 genomes]
rs11097117	0.94[ASN][1000 genomes]
rs11097121	0.94[ASN][1000 genomes]
rs11727895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732850	0.80[ASN][1000 genomes]
rs11734358	0.87[ASN][1000 genomes]
rs11935073	0.94[ASN][1000 genomes]
rs12233780	0.94[ASN][1000 genomes]
rs12505147	0.92[ASN][1000 genomes]
rs12505149	0.82[AFR][1000 genomes]
rs12506101	0.92[ASN][1000 genomes]
rs12508200	0.84[ASN][1000 genomes]
rs12508992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511212	0.94[ASN][1000 genomes]
rs12511575	0.91[ASN][1000 genomes]
rs13133144	0.82[AFR][1000 genomes]
rs13137229	0.80[ASN][1000 genomes]
rs16996019	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17000786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000794	0.94[ASN][1000 genomes]
rs17000864	0.94[ASN][1000 genomes]
rs186563	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089253	0.94[ASN][1000 genomes]
rs2175640	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28573275	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869175	0.84[AFR][1000 genomes]
rs324686	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324688	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324690	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324691	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324693	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324696	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324697	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324698	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324700	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324701	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324703	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324709	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs324712	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324713	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324719	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324722	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324723	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324727	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324730	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324731	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324733	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324735	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324738	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324740	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855591	0.81[ASN][1000 genomes]
rs4262008	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859408	0.84[AFR][1000 genomes]
rs4859555	0.82[AFR][1000 genomes]
rs61603278	0.94[ASN][1000 genomes]
rs6531901	0.82[AFR][1000 genomes]
rs6531934	0.94[ASN][1000 genomes]
rs6822619	0.82[EUR][1000 genomes]
rs6827016	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856162	0.94[ASN][1000 genomes]
rs72858061	0.94[ASN][1000 genomes]
rs7657198	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663617	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7680729	0.91[ASN][1000 genomes]
rs7684778	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7693127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
4	chr4:76659800-76679000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:76668400-76698600	Weak transcription	Fetal Brain Male	brain
6	chr4:76671000-76689400	Weak transcription	Fetal Heart	heart
7	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
8	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
9	chr4:76672000-76692200	Weak transcription	Colonic Mucosa	Colon
10	chr4:76673600-76680200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:76674600-76678000	Strong transcription	Fetal Stomach	stomach
12	chr4:76674600-76679800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:76675200-76677800	Strong transcription	Adipose Nuclei	Adipose
16	chr4:76675200-76678000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:76675200-76678800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:76675200-76680000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:76675200-76681200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:76675400-76678000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:76675400-76679600	Strong transcription	HSMM	muscle
22	chr4:76675400-76683800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:76675400-76683800	Strong transcription	Liver	Liver
24	chr4:76675400-76686800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:76675400-76695400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:76675600-76678000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:76676000-76678000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:76676000-76696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:76676200-76679800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:76676200-76687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:76676200-76689400	Weak transcription	NHLF	lung
32	chr4:76676200-76695200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:76676200-76695800	Weak transcription	Brain Substantia Nigra	brain
34	chr4:76676200-76696000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:76676400-76680400	Weak transcription	Lung	lung
36	chr4:76676400-76692000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:76676400-76695800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:76676400-76695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:76676400-76696400	Weak transcription	Esophagus	oesophagus
40	chr4:76676400-76696400	Weak transcription	Pancreas	Pancrea
41	chr4:76676400-76696800	Weak transcription	NHEK	skin
42	chr4:76676400-76697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:76676400-76704800	Weak transcription	Aorta	Aorta
44	chr4:76676400-76704800	Weak transcription	Gastric	stomach
45	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
46	chr4:76676600-76678400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:76676600-76692000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:76676600-76695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:76676600-76695800	Weak transcription	Fetal Kidney	kidney
50	chr4:76676800-76679200	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links