Variant report

Variant	rs6744619
Chromosome Location	chr2:48734725-48734726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48727413..48730454-chr2:48730607..48734866,3	K562	blood:

Variant related genes	Relation type
ENSG00000202227	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10164898	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10185212	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11125172	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11677398	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11695461	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477901	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4371401	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4429520	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4430989	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4564825	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953582	0.84[ASN][1000 genomes]
rs4953585	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4953586	0.84[ASN][1000 genomes]
rs4953588	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6545042	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545043	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545044	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6715766	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7557764	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7608588	1.00[EUR][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
4	chr2:48695600-48735200	Weak transcription	K562	blood
5	chr2:48698800-48735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:48700200-48735400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:48700600-48735600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:48704000-48735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:48704600-48735400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:48704600-48735600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:48708400-48735400	Weak transcription	Stomach Mucosa	stomach
13	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
15	chr2:48710400-48735400	Weak transcription	NHLF	lung
16	chr2:48714400-48735400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:48720800-48735800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:48721000-48735600	Strong transcription	Fetal Thymus	thymus
19	chr2:48721000-48736400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:48722600-48741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:48723800-48748200	Strong transcription	GM12878-XiMat	blood
22	chr2:48724200-48735000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:48724200-48735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:48724400-48735400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:48724400-48738400	Weak transcription	Fetal Heart	heart
26	chr2:48726200-48735600	Weak transcription	Gastric	stomach
27	chr2:48726200-48735600	Weak transcription	Pancreas	Pancrea
28	chr2:48726200-48742400	Weak transcription	Colonic Mucosa	Colon
29	chr2:48726400-48735600	Weak transcription	Small Intestine	intestine
30	chr2:48726400-48737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:48726600-48735200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:48726600-48735600	Weak transcription	Fetal Kidney	kidney
34	chr2:48726800-48735200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:48727400-48735400	Weak transcription	NH-A	brain
36	chr2:48727400-48735600	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:48728200-48756800	Weak transcription	HMEC	breast
38	chr2:48728400-48735200	Weak transcription	Hela-S3	cervix
39	chr2:48728600-48735200	Weak transcription	HepG2	liver
40	chr2:48728600-48738400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:48728800-48735000	Weak transcription	Fetal Brain Female	brain
42	chr2:48728800-48735200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:48728800-48735200	Weak transcription	HUVEC	blood vessel
44	chr2:48728800-48735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:48728800-48737600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:48728800-48741800	Weak transcription	Spleen	Spleen
47	chr2:48729000-48735200	Weak transcription	A549	lung
48	chr2:48729000-48735600	Weak transcription	Aorta	Aorta
49	chr2:48729000-48735600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:48729000-48735600	Weak transcription	Ovary	ovary

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