Variant report

Variant	rs4803674
Chromosome Location	chr19:44585159-44585160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44583811..44585821-chr19:44587425..44590403,2	MCF-7	breast:
2	chr19:44583300..44585614-chr19:44596665..44599577,2	K562	blood:

Variant related genes	Relation type
ENSG00000253021	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11083735	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs11083736	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083737	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11666432	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12610472	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1474061	0.81[EUR][1000 genomes]
rs1996409	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs2068061	0.83[CEU][hapmap]
rs2138823	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2138824	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176431	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2284978	0.82[CEU][hapmap]
rs3826941	0.83[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239528	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239529	0.83[CEU][hapmap]
rs427608	0.91[CHB][hapmap];0.81[MEX][hapmap]
rs4299256	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4371266	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4375771	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4444434	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs454904	0.91[CHB][hapmap];0.89[GIH][hapmap]
rs4550576	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4555257	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803668	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803672	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803676	0.83[CEU][hapmap]
rs4803678	0.83[CEU][hapmap]
rs4803680	0.83[CEU][hapmap]
rs55798868	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56003307	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56230322	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56250154	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57895932	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62115491	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62119177	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6509135	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6509137	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6509139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509141	0.80[CEU][hapmap]
rs7251015	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7252213	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7255192	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7257809	0.91[CHB][hapmap]
rs8105003	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8109313	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109615	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8110348	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9646633	0.86[EUR][1000 genomes];0.85[ASN][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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv978827	chr19:44584843-44590122	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4803674	ZNF223	cis	lung	GTEx
rs4803674	ZNF223	cis	Thyroid	GTEx
rs4803674	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44577200-44586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44577200-44586200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:44577200-44586200	Weak transcription	HUVEC	blood vessel
5	chr19:44577200-44588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:44577200-44588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:44577200-44590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:44577400-44585200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:44577400-44586200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:44577400-44586400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:44577400-44589200	Weak transcription	NH-A	brain
13	chr19:44577600-44585400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:44577600-44586000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:44577600-44586000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:44577600-44586000	Weak transcription	NHDF-Ad	bronchial
17	chr19:44577600-44586200	Weak transcription	Fetal Brain Male	brain
18	chr19:44577600-44586400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:44577600-44587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:44577600-44588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:44577600-44589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:44577600-44597800	Weak transcription	HMEC	breast
23	chr19:44577800-44586400	Weak transcription	NHEK	skin
24	chr19:44577800-44586600	Weak transcription	HepG2	liver
25	chr19:44580600-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:44580600-44592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:44580600-44592600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:44580800-44593200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:44581000-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:44581000-44591400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:44581000-44591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:44581200-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:44581200-44591600	Strong transcription	Dnd41	blood
34	chr19:44581200-44592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44581200-44593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:44581400-44591000	Strong transcription	Fetal Intestine Large	intestine
37	chr19:44581600-44586000	Weak transcription	Primary B cells from cord blood	blood
38	chr19:44581600-44586200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:44581600-44590000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:44581800-44592000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44581800-44592800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:44582000-44589400	Strong transcription	Fetal Intestine Small	intestine
43	chr19:44582000-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:44582000-44592600	Strong transcription	Fetal Stomach	stomach
45	chr19:44582200-44585800	Weak transcription	Fetal Kidney	kidney
46	chr19:44582200-44586000	Weak transcription	HSMM	muscle
47	chr19:44582200-44586600	Weak transcription	A549	lung
48	chr19:44582200-44587800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:44582200-44592800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:44582400-44585200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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