Variant report

Variant	rs2285851
Chromosome Location	chr19:19126913-19126914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19123249..19131135-chr19:19141063..19146907,7	K562	blood:
2	chr19:19125900..19131875-chr19:19132072..19136394,7	K562	blood:

Variant related genes	Relation type
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1007483	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10221504	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10403222	0.97[ASN][1000 genomes]
rs10404627	0.95[ASN][1000 genomes]
rs10405189	1.00[ASN][1000 genomes]
rs10405635	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10409164	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10410451	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10410568	0.95[ASN][1000 genomes]
rs10414676	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10416783	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10417974	0.86[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10421019	0.80[CEU][hapmap];0.87[TSI][hapmap]
rs10422335	0.90[ASN][1000 genomes]
rs10422906	0.95[ASN][1000 genomes]
rs10423742	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.95[ASN][1000 genomes]
rs10423815	1.00[ASN][1000 genomes]
rs1079543	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs10854005	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1124921	1.00[ASN][1000 genomes]
rs11666120	0.98[ASN][1000 genomes]
rs11666340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11666627	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11670204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11670239	0.94[ASN][1000 genomes]
rs11729	0.80[CEU][hapmap];0.91[TSI][hapmap]
rs11878368	0.97[ASN][1000 genomes]
rs12016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12975676	0.95[ASN][1000 genomes]
rs12975754	0.94[ASN][1000 genomes]
rs12976302	0.92[ASN][1000 genomes]
rs12978822	0.89[ASN][1000 genomes]
rs12979565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12985799	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1859267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2012318	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs2013813	0.81[CEU][hapmap];0.90[MEX][hapmap]
rs2107263	0.97[ASN][1000 genomes]
rs2158320	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2240095	0.97[ASN][1000 genomes]
rs2269806	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2872394	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3180770	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4808176	0.81[CEU][hapmap]
rs4808179	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808184	0.95[ASN][1000 genomes]
rs4808895	0.81[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4808902	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808904	1.00[ASN][1000 genomes]
rs4808905	1.00[ASN][1000 genomes]
rs4808906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4808907	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4808911	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808913	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4808916	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808923	0.80[CEU][hapmap];0.87[TSI][hapmap]
rs6511010	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6511011	0.83[ASN][1000 genomes]
rs6511014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6511015	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511017	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511018	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs6511021	0.85[CHB][hapmap]
rs7248399	1.00[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs7248771	0.95[ASN][1000 genomes]
rs7250131	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253244	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7255937	0.95[ASN][1000 genomes]
rs7256648	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7257635	0.91[ASN][1000 genomes]
rs7258637	1.00[ASN][1000 genomes]
rs7259510	1.00[ASN][1000 genomes]
rs7259609	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.95[ASN][1000 genomes]
rs756792	0.81[ASW][hapmap];0.85[CEU][hapmap];0.87[TSI][hapmap]
rs757220	0.93[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs8101529	0.96[ASN][1000 genomes]
rs8103431	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104799	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8106146	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs8107710	0.90[ASN][1000 genomes]
rs8109654	1.00[ASN][1000 genomes]
rs8110629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8111634	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8111635	0.97[ASN][1000 genomes]
rs8112566	0.97[ASN][1000 genomes]
rs916898	0.91[ASN][1000 genomes]
rs929215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9304959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676917	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2285851	ZNF737	cis	parietal	SCAN
rs2285851	ZNF14	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19101000-19133000	Strong transcription	Fetal Thymus	thymus
2	chr19:19101200-19130400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:19101400-19130400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:19101400-19142000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:19101600-19130400	Strong transcription	Primary T cells from cord blood	blood
7	chr19:19101600-19130400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19102000-19130200	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:19102000-19132000	Strong transcription	Dnd41	blood
10	chr19:19103200-19130200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:19106800-19143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:19107200-19130200	Strong transcription	Brain Germinal Matrix	brain
13	chr19:19107200-19142600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19107600-19127200	Strong transcription	Fetal Intestine Large	intestine
15	chr19:19107600-19130200	Strong transcription	Brain Hippocampus Middle	brain
16	chr19:19107600-19142600	Strong transcription	Fetal Stomach	stomach
17	chr19:19107800-19130200	Strong transcription	Placenta	Placenta
18	chr19:19107800-19130400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:19107800-19130400	Strong transcription	Fetal Brain Female	brain
20	chr19:19108000-19142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:19108000-19142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:19108200-19130400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:19108200-19142600	Weak transcription	Right Atrium	heart
24	chr19:19108600-19130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:19108600-19142200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:19108600-19142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:19108800-19127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:19108800-19130400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:19109000-19130400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:19109000-19141800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:19109400-19130200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:19109400-19130200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:19109400-19142400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:19109800-19130200	Strong transcription	GM12878-XiMat	blood
35	chr19:19110200-19130400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:19110600-19130000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:19110600-19142400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:19111000-19130200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:19111000-19133600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19111200-19130200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:19111200-19130200	Strong transcription	Spleen	Spleen
42	chr19:19111200-19130400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:19111200-19130400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:19111200-19130400	Strong transcription	Liver	Liver
45	chr19:19111200-19131400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:19111400-19130200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr19:19111400-19130400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:19111600-19130400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:19112000-19128200	Strong transcription	K562	blood
50	chr19:19112000-19130200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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