Variant report

Variant	rs3768667
Chromosome Location	chr2:30372327-30372328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30370673..30372393-chr2:30454162..30455838,3	K562	blood:
2	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
3	chr2:30372153..30375046-chr2:30381081..30382923,2	MCF-7	breast:
4	chr2:30371465..30373484-chr2:30397910..30400292,3	K562	blood:
5	chr2:30370893..30374119-chr2:30453845..30456707,3	K562	blood:
6	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:
7	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11127257	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11127258	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1137288	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11688623	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11690964	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11903016	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12620501	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12991494	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13017699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17734800	0.92[ASN][1000 genomes]
rs17734815	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276548	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2361753	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34125526	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34350694	0.98[ASN][1000 genomes]
rs35466989	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35640159	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4465805	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55869928	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62141084	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62141087	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62141088	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747196	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7600457	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7603324	0.89[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30369000-30372800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:30371000-30373400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:30371000-30380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30371000-30380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:30371200-30372400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:30371200-30373000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr2:30371200-30374000	Enhancers	Small Intestine	intestine
8	chr2:30371400-30372400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:30371400-30372400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:30371400-30372400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:30371400-30372400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:30371400-30372400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:30371400-30372400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:30371400-30372400	Weak transcription	Lung	lung
15	chr2:30371400-30372400	Weak transcription	Stomach Mucosa	stomach
16	chr2:30371400-30372600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:30371400-30372600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:30371400-30372600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:30371400-30372600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:30371400-30372600	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:30371400-30372600	Weak transcription	NHLF	lung
22	chr2:30371400-30372800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:30371400-30372800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:30371400-30372800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:30371400-30373000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30371400-30373200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:30371400-30373200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:30371400-30373200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:30371400-30373200	Enhancers	Brain Angular Gyrus	brain
30	chr2:30371400-30373400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:30371400-30373400	Enhancers	HMEC	breast
32	chr2:30371400-30373400	Genic enhancers	Osteobl	bone
33	chr2:30371400-30373600	Enhancers	Liver	Liver
34	chr2:30371400-30374000	Enhancers	Brain Substantia Nigra	brain
35	chr2:30371400-30374000	Enhancers	Fetal Intestine Small	intestine
36	chr2:30371400-30374000	Genic enhancers	Placenta	Placenta
37	chr2:30371400-30374000	Genic enhancers	Fetal Thymus	thymus
38	chr2:30371400-30374000	Enhancers	Psoas Muscle	Psoas
39	chr2:30371400-30374000	Enhancers	HepG2	liver
40	chr2:30371400-30374800	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr2:30371400-30374800	Genic enhancers	HSMM	muscle
42	chr2:30371400-30375200	Enhancers	Colon Smooth Muscle	Colon
43	chr2:30371400-30380000	Weak transcription	Esophagus	oesophagus
44	chr2:30371400-30380000	Weak transcription	Dnd41	blood
45	chr2:30371400-30380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:30371600-30372400	Weak transcription	Fetal Brain Male	brain
48	chr2:30371600-30372400	Weak transcription	Fetal Stomach	stomach
49	chr2:30371600-30372400	Enhancers	HUVEC	blood vessel
50	chr2:30371600-30372600	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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