Variant report

Variant	rs1227812
Chromosome Location	chr19:37261068-37261069
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	chr19:37260884-37261110	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:37260892-37261144	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36924487..36927399-chr19:37259800..37262103,2	K562	blood:
2	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
3	chr19:37257289..37258823-chr19:37260501..37262217,2	K562	blood:

Variant related genes	Relation type
ENSG00000267260	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10410980	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10420413	0.81[EUR][1000 genomes]
rs1148387	0.81[EUR][1000 genomes]
rs1148393	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1148400	0.81[EUR][1000 genomes]
rs11672680	0.82[EUR][1000 genomes]
rs1227796	0.81[EUR][1000 genomes]
rs1227797	0.80[EUR][1000 genomes]
rs1227802	0.83[EUR][1000 genomes]
rs1227809	0.83[EUR][1000 genomes]
rs1227811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227816	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1227818	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1227863	0.81[EUR][1000 genomes]
rs1227864	0.82[EUR][1000 genomes]
rs1227865	0.81[EUR][1000 genomes]
rs1227867	0.81[EUR][1000 genomes]
rs12986045	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12986257	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2245366	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445877	0.80[EUR][1000 genomes]
rs2695086	0.82[EUR][1000 genomes]
rs28372636	0.83[EUR][1000 genomes]
rs3108218	0.82[EUR][1000 genomes]
rs3108219	0.82[EUR][1000 genomes]
rs3108573	0.82[EUR][1000 genomes]
rs3108583	0.82[EUR][1000 genomes]
rs3108585	0.82[EUR][1000 genomes]
rs3108589	0.82[EUR][1000 genomes]
rs3108592	0.80[AMR][1000 genomes]
rs34629452	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35127048	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35265584	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35313661	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35815897	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3745775	0.81[EUR][1000 genomes]
rs4092391	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4806350	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4806351	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806353	0.81[EUR][1000 genomes]
rs57193089	0.81[EUR][1000 genomes]
rs58381108	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62114321	0.81[EUR][1000 genomes]
rs7252646	0.83[AFR][1000 genomes]
rs7258563	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73037149	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8106994	0.81[EUR][1000 genomes]
rs826969	0.85[AFR][1000 genomes]
rs826970	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
16	nsv963041	chr19:37252526-37264177	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37234000-37262400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37235000-37261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:37235200-37261600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37235200-37262200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:37235200-37262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:37245600-37261600	ZNF genes & repeats	Fetal Stomach	stomach
7	chr19:37249200-37261800	Weak transcription	HUVEC	blood vessel
8	chr19:37250200-37262000	Weak transcription	Stomach Mucosa	stomach
9	chr19:37250400-37262000	Weak transcription	Psoas Muscle	Psoas
10	chr19:37252200-37261800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:37252800-37261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:37253200-37261800	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:37253400-37261800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:37253400-37261800	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:37253400-37261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:37253800-37261800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:37253800-37261800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:37253800-37261800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:37253800-37261800	Weak transcription	HSMMtube	muscle
20	chr19:37253800-37262400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:37254600-37262400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:37255200-37262200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:37255800-37262400	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:37256000-37261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:37256000-37261800	Weak transcription	Gastric	stomach
26	chr19:37256000-37262000	Weak transcription	Aorta	Aorta
27	chr19:37256200-37261800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:37256200-37261800	Weak transcription	Primary T cells from cord blood	blood
29	chr19:37256200-37261800	Weak transcription	Left Ventricle	heart
30	chr19:37256400-37261800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:37256400-37261800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:37256800-37261600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:37257200-37261800	ZNF genes & repeats	Dnd41	blood
34	chr19:37257600-37261200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:37257800-37261800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:37258800-37261200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:37259400-37261200	ZNF genes & repeats	Ovary	ovary
38	chr19:37259400-37262200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr19:37259400-37262200	ZNF genes & repeats	K562	blood
40	chr19:37259400-37262400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr19:37259600-37261200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr19:37259600-37261200	ZNF genes & repeats	Liver	Liver
43	chr19:37259600-37261400	ZNF genes & repeats	Fetal Lung	lung
44	chr19:37259600-37261600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:37259600-37262400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:37259800-37261600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:37259800-37262000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:37260000-37261400	Weak transcription	Right Atrium	heart
49	chr19:37260200-37261200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr19:37260200-37261200	ZNF genes & repeats	Fetal Brain Female	brain

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