Variant report

Variant	rs2945966
Chromosome Location	chr19:37023635-37023636
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	chr19:37023619-37023782	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37017700..37019947-chr19:37023301..37025958,2	K562	blood:
2	chr19:37020966..37023894-chr19:37025965..37028005,2	K562	blood:
3	chr19:37019316..37021481-chr19:37022356..37024677,2	MCF-7	breast:

Variant related genes	Relation type
ZNF260	TF binding region
ENSG00000254004	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2912426	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912427	0.88[AMR][1000 genomes]
rs2912428	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2912431	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2912434	0.82[ASN][1000 genomes]
rs2912436	0.92[ASN][1000 genomes]
rs2912437	0.92[ASN][1000 genomes]
rs2912438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945946	0.81[ASN][1000 genomes]
rs2945960	0.81[ASN][1000 genomes]
rs2945967	0.92[ASN][1000 genomes]
rs2945968	0.90[ASN][1000 genomes]
rs2945970	0.87[ASN][1000 genomes]
rs2945974	0.91[ASN][1000 genomes]
rs2945979	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945980	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945982	0.84[ASN][1000 genomes]
rs2945987	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945988	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967432	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967434	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2967441	0.92[ASN][1000 genomes]
rs2967448	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967449	0.87[ASN][1000 genomes]
rs2967450	0.87[ASN][1000 genomes]
rs2967451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967452	0.89[ASN][1000 genomes]
rs2967456	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967462	0.80[ASN][1000 genomes]
rs2967468	0.83[EUR][1000 genomes]
rs2967474	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967475	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2967505	0.87[ASN][1000 genomes]
rs2967542	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2967544	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3107237	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3107238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111554	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4561584	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	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
9	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37020200-37024000	Weak transcription	Aorta	Aorta
2	chr19:37020400-37024400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:37020400-37024400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr19:37020400-37024600	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:37020400-37025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:37020400-37025600	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:37020400-37025800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:37020400-37025800	Weak transcription	Fetal Kidney	kidney
9	chr19:37020400-37025800	Weak transcription	Stomach Mucosa	stomach
10	chr19:37020400-37025800	Weak transcription	HSMM	muscle
11	chr19:37020400-37025800	Weak transcription	HSMMtube	muscle
12	chr19:37020400-37026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:37020400-37034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:37020600-37023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:37020600-37024000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:37020600-37024000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:37020600-37024000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:37020600-37024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:37020600-37024400	Weak transcription	Fetal Heart	heart
20	chr19:37020600-37024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:37020600-37025600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:37020600-37025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:37020600-37025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:37020600-37025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:37020600-37025800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:37020600-37025800	Weak transcription	Placenta	Placenta
27	chr19:37020600-37025800	Weak transcription	Right Ventricle	heart
28	chr19:37020600-37027600	Weak transcription	Hela-S3	cervix
29	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
30	chr19:37021600-37030000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:37022600-37023800	Weak transcription	Dnd41	blood
32	chr19:37022600-37024400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:37022600-37025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:37023200-37024200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:37023200-37024200	ZNF genes & repeats	Fetal Stomach	stomach
38	chr19:37023200-37025000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:37023200-37025000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:37023200-37027000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:37023200-37031800	ZNF genes & repeats	A549	lung
42	chr19:37023200-37032600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:37023400-37024600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:37023400-37024800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:37023400-37030000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr19:37023400-37030200	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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