Variant report

Variant	rs2074296
Chromosome Location	chr19:19373689-19373690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19373499-19373717	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:19373540-19373690	GM12871	blood:	n/a	chr19:19373623-19373636
3	CTCF	chr19:19373560-19373710	HVMF	connective:	n/a	chr19:19373623-19373636
4	SIN3A	chr19:19371722-19373720	H1-hESC	embryonic stem cell:	n/a	chr19:19372494-19372508 chr19:19372658-19372671
5	MAX	chr19:19373494-19373930	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:19373560-19373710	NB4	blood:	n/a	chr19:19373623-19373636
7	CTBP2	chr19:19371708-19373865	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:19373411-19373815	H1-hESC	embryonic stem cell:	n/a	chr19:19373623-19373636
9	ZNF143	chr19:19372333-19373808	H1-hESC	embryonic stem cell:	n/a	chr19:19373516-19373526
10	CTCF	chr19:19373508-19373736	H1-hESC	embryonic stem cell:	n/a	chr19:19373623-19373636
11	RAD21	chr19:19373587-19373756	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr19:19373499-19373856	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19371179..19375166-chr19:19377084..19380673,3	K562	blood:
2	chr19:19371873..19374134-chr19:19452929..19454746,2	K562	blood:

Variant related genes	Relation type
HAPLN4	TF binding region
ENSG00000213996	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1009136	0.83[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1010207	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402661	0.83[ASN][1000 genomes]
rs10403731	0.80[ASN][1000 genomes]
rs10407952	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10409234	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10414830	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs10418051	0.94[ASN][1000 genomes]
rs10419245	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419672	0.86[ASN][1000 genomes]
rs10421505	0.87[ASN][1000 genomes]
rs10426780	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11085259	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs11085261	0.80[ASN][1000 genomes]
rs11666553	0.85[ASN][1000 genomes]
rs12459676	0.83[ASN][1000 genomes]
rs12460764	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12976025	0.83[ASN][1000 genomes]
rs12977937	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12982276	0.87[ASN][1000 genomes]
rs12983137	0.85[ASN][1000 genomes]
rs12985655	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13964	0.82[CEU][hapmap];0.88[CHB][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1469712	0.83[CEU][hapmap]
rs15622	0.83[CEU][hapmap];0.88[CHB][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859287	0.88[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs2017964	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023882	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023883	0.82[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs2074089	0.83[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2074090	0.83[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074091	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074298	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074299	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074300	0.87[ASN][1000 genomes]
rs2074301	0.88[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2074303	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074550	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074551	0.91[ASN][1000 genomes]
rs2269873	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285627	0.83[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs2285628	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs2285859	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301668	0.88[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2301669	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2301671	0.80[ASN][1000 genomes]
rs2301784	0.91[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301786	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2315022	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2315025	0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2905421	0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2905423	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2905424	0.83[CEU][hapmap];0.83[CHB][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs2905425	0.83[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs2916074	0.87[MEX][hapmap];0.88[TSI][hapmap]
rs2965180	0.83[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs2965188	0.83[CEU][hapmap]
rs2965189	0.87[MEX][hapmap];0.88[TSI][hapmap]
rs2965191	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2965193	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2965198	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs34277109	0.83[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs3764567	0.88[CHB][hapmap];0.91[CHD][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap]
rs4808193	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808194	0.84[ASN][1000 genomes]
rs4808200	0.83[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs4808203	0.91[MEX][hapmap];0.90[TSI][hapmap]
rs4808937	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808938	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808940	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808941	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808942	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62135552	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511026	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511028	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511032	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67720221	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7246748	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247309	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7250368	0.82[ASN][1000 genomes]
rs7254230	0.83[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254748	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254927	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259434	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs735273	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757000	0.82[ASN][1000 genomes]
rs757001	0.81[ASN][1000 genomes]
rs769267	0.83[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8101938	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103197	0.83[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8103496	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105094	0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[ASN][1000 genomes]
rs8105984	0.94[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs8108647	0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[ASN][1000 genomes]
rs9304960	0.80[ASN][1000 genomes]
rs968525	0.88[CHB][hapmap];0.88[CHD][hapmap];0.82[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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19371400-19374000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:19371400-19374000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:19371400-19374000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:19371600-19374000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:19371800-19374000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr19:19371800-19374200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19372000-19373800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr19:19372600-19373800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:19372600-19373800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:19372800-19374000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:19372800-19374000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr19:19373000-19373800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr19:19373000-19373800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr19:19373000-19373800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr19:19373000-19374000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr19:19373000-19384000	Weak transcription	Pancreas	Pancrea
17	chr19:19373200-19373800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:19373200-19373800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:19373200-19373800	Bivalent Enhancer	Fetal Brain Male	brain
20	chr19:19373200-19374000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:19373200-19374000	Active TSS	Brain Angular Gyrus	brain
22	chr19:19373200-19374000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr19:19373200-19374200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:19373200-19375000	Weak transcription	Liver	Liver
25	chr19:19373400-19373800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:19373400-19373800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr19:19373400-19374000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr19:19373400-19374000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:19373600-19373800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:19373600-19373800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:19373600-19373800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:19373600-19373800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:19373600-19373800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr19:19373600-19373800	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr19:19373600-19373800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr19:19373600-19373800	Bivalent Enhancer	Placenta	Placenta
37	chr19:19373600-19374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:19373600-19374000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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