Variant report

Variant	rs510214
Chromosome Location	chr19:37436555-37436556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1423047	0.88[AFR][1000 genomes]
rs1644638	0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1644640	0.88[AFR][1000 genomes]
rs1644641	0.87[AFR][1000 genomes]
rs1644642	0.89[AFR][1000 genomes]
rs1644643	0.89[AFR][1000 genomes]
rs1644645	0.87[AFR][1000 genomes]
rs1644711	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1667331	0.80[AFR][1000 genomes]
rs1667340	0.82[AFR][1000 genomes]
rs1667343	0.86[AFR][1000 genomes]
rs2547055	0.86[AFR][1000 genomes]
rs2551047	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs35011739	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs472226	0.89[AFR][1000 genomes]
rs474017	0.90[AFR][1000 genomes]
rs475026	0.89[AFR][1000 genomes]
rs484001	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs496872	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs505717	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs508361	0.80[AFR][1000 genomes]
rs510757	0.88[YRI][hapmap]
rs513406	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs517110	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs519606	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs524802	0.92[AFR][1000 genomes]
rs528504	0.92[AFR][1000 genomes]
rs529468	0.92[AFR][1000 genomes]
rs540451	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs544543	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs547483	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs550017	0.84[AFR][1000 genomes]
rs551717	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs565721	0.90[AFR][1000 genomes]
rs567796	0.88[AFR][1000 genomes]
rs568654	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs569371	0.90[AFR][1000 genomes]
rs573294	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs580846	1.00[CHB][hapmap]
rs7256001	0.87[AFR][1000 genomes]
rs734381	0.92[AFR][1000 genomes]
rs826262	1.00[YRI][hapmap]
rs826289	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs826290	1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs826294	0.92[AFR][1000 genomes]
rs826296	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs826303	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs826304	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs826307	0.92[AFR][1000 genomes]
rs826314	0.92[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	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription 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	25 gene(s)	inside rSNPs	diseases
13	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
2	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
4	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
7	chr19:37419400-37447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37420600-37443000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:37420600-37447400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:37420600-37447600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:37426800-37438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:37427200-37437200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:37427200-37441600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr19:37427400-37437200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:37427400-37437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:37427600-37436800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr19:37428800-37438200	Weak transcription	Brain Germinal Matrix	brain
18	chr19:37430200-37438000	Weak transcription	HUVEC	blood vessel
19	chr19:37430400-37438400	Weak transcription	Colonic Mucosa	Colon
20	chr19:37430800-37443200	Weak transcription	Pancreas	Pancrea
21	chr19:37431000-37438200	Weak transcription	NH-A	brain
22	chr19:37431000-37439000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:37431200-37438200	Weak transcription	Fetal Kidney	kidney
24	chr19:37432600-37438200	Strong transcription	Fetal Lung	lung
25	chr19:37432600-37441400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr19:37432800-37436600	Strong transcription	Fetal Stomach	stomach
27	chr19:37432800-37436800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr19:37432800-37438000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:37432800-37438200	Weak transcription	NHDF-Ad	bronchial
30	chr19:37433000-37437000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:37433000-37442000	ZNF genes & repeats	Ovary	ovary
32	chr19:37433200-37437000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr19:37433400-37438200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:37433600-37436800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr19:37433600-37436800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:37433600-37437200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:37433600-37439200	Strong transcription	Right Ventricle	heart
38	chr19:37433800-37436800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr19:37433800-37436800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr19:37433800-37437200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr19:37433800-37437400	Strong transcription	Fetal Brain Female	brain
42	chr19:37433800-37437800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:37433800-37439600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:37434000-37438000	Strong transcription	Primary B cells from cord blood	blood
45	chr19:37434200-37437800	Weak transcription	Brain Angular Gyrus	brain
46	chr19:37434400-37437800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:37434400-37438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:37434400-37438200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr19:37434400-37438200	Weak transcription	HSMM	muscle
50	chr19:37434400-37438400	Weak transcription	HSMMtube	muscle

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