Variant report

Variant	rs28626220
Chromosome Location	chr8:8740193-8740194
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	chr8:8738833..8741293-chr8:8745302..8747462,3	K562	blood:
2	chr8:8729141..8730774-chr8:8738935..8740883,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10092694	0.82[EUR][1000 genomes]
rs12114511	0.83[ASN][1000 genomes]
rs13249564	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254041	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263327	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13265597	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663650	0.82[ASN][1000 genomes]
rs34315433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34470797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35005822	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35060319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36045355	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3748141	0.82[EUR][1000 genomes]
rs3762032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3762033	0.85[ASN][1000 genomes]
rs3762034	0.85[ASN][1000 genomes]
rs4840373	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4841061	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841062	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841063	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841066	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601268	0.83[ASN][1000 genomes]
rs73192215	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7812459	0.83[ASN][1000 genomes]
rs7844068	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9942753	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:8730600-8742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:8730600-8742000	Weak transcription	K562	blood
5	chr8:8730800-8742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:8731000-8742000	Weak transcription	Fetal Heart	heart
8	chr8:8731000-8742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel
10	chr8:8731000-8745600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:8731400-8745400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:8731800-8741800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:8732000-8741800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:8732600-8745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:8732800-8741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:8732800-8742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:8733200-8742000	Weak transcription	Liver	Liver
18	chr8:8733600-8742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:8735200-8745200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:8735400-8742000	Weak transcription	HSMM	muscle
21	chr8:8735600-8741800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:8735600-8745200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:8735800-8742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:8735800-8742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:8735800-8742000	Weak transcription	Stomach Mucosa	stomach
26	chr8:8735800-8742000	Weak transcription	HSMMtube	muscle
27	chr8:8735800-8742200	Weak transcription	Pancreas	Pancrea
28	chr8:8735800-8742400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:8735800-8743200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:8735800-8745200	Weak transcription	Colonic Mucosa	Colon
31	chr8:8735800-8745200	Weak transcription	Psoas Muscle	Psoas
32	chr8:8735800-8745600	Weak transcription	Ovary	ovary
33	chr8:8735800-8746200	Weak transcription	Esophagus	oesophagus
34	chr8:8736000-8741800	Weak transcription	A549	lung
35	chr8:8736000-8741800	Weak transcription	HepG2	liver
36	chr8:8736400-8741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:8736400-8741800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:8736800-8740800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:8736800-8742000	Weak transcription	Aorta	Aorta
40	chr8:8737000-8741000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:8737600-8740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:8737600-8741000	Strong transcription	Fetal Intestine Small	intestine
43	chr8:8737800-8741600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:8737800-8742000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:8738000-8742000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:8738000-8742000	Weak transcription	Fetal Kidney	kidney
47	chr8:8738000-8742200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:8738000-8745200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:8738200-8740400	Enhancers	Lung	lung
50	chr8:8738200-8741400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links