Variant report

Variant	rs600186
Chromosome Location	chr19:21487664-21487665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1114305	0.93[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2086319	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2434996	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2562402	0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs2562409	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2562415	0.86[EUR][1000 genomes]
rs2562435	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2562438	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2562456	0.80[JPT][hapmap]
rs2619823	0.87[ASN][1000 genomes]
rs2650793	0.86[CHB][hapmap]
rs2650797	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650798	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650842	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2650849	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650851	0.86[EUR][1000 genomes]
rs279804	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279805	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279810	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279811	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279812	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279814	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279815	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279816	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279818	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs279819	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs279820	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914626	0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs2914627	0.86[EUR][1000 genomes]
rs2914645	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2928188	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2928209	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2928216	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2928218	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2937157	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2937174	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2968022	0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968023	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2968024	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2968040	0.85[AMR][1000 genomes]
rs2968041	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2968045	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2968046	0.93[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2968066	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2968082	0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs2968086	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs472472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475162	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs476376	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs478046	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs487991	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs489613	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs489845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs492271	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504026	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs508656	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs511469	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs516519	0.94[ASN][1000 genomes]
rs527060	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs537114	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs540637	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs540714	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs541639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547516	0.84[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555596	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs571937	0.88[ASN][1000 genomes]
rs583680	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs586144	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598959	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs609806	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs612877	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627522	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs631436	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs632221	0.80[ASN][1000 genomes]
rs6511253	0.86[CHB][hapmap]
rs651454	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs661453	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8102235	0.86[EUR][1000 genomes]
rs8112775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs924485	0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
10	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:21472200-21490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
5	chr19:21474000-21490600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:21474400-21492400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
8	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:21476000-21490400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr19:21476000-21490400	Weak transcription	Hela-S3	cervix
11	chr19:21476200-21488200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:21476800-21497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:21477000-21494400	Weak transcription	Stomach Mucosa	stomach
14	chr19:21477200-21495000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:21477600-21495800	Weak transcription	HepG2	liver
16	chr19:21478000-21497400	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:21478200-21492600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:21478400-21500600	Weak transcription	Psoas Muscle	Psoas
19	chr19:21478600-21490600	Strong transcription	Fetal Lung	lung
20	chr19:21478600-21499200	Weak transcription	HMEC	breast
21	chr19:21480400-21487800	Strong transcription	Adipose Nuclei	Adipose
22	chr19:21480600-21487800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:21480800-21490600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:21481000-21500600	Weak transcription	NHLF	lung
25	chr19:21481200-21493000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:21481400-21488000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:21481600-21500000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:21481600-21500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:21481600-21505600	Weak transcription	K562	blood
30	chr19:21481800-21488400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:21481800-21488600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:21481800-21488800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:21481800-21489800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr19:21481800-21490600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:21481800-21492600	Strong transcription	Fetal Muscle Leg	muscle
36	chr19:21481800-21493000	Strong transcription	Dnd41	blood
37	chr19:21481800-21493400	Strong transcription	Fetal Stomach	stomach
38	chr19:21482000-21492400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:21482000-21493200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:21482000-21493800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:21482200-21488000	Strong transcription	Left Ventricle	heart
42	chr19:21482200-21490400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:21482400-21492800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:21482800-21488200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:21482800-21489600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr19:21483000-21488800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:21483000-21490000	Weak transcription	NHEK	skin
48	chr19:21483200-21488200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr19:21483200-21492800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:21483400-21490600	Strong transcription	Ovary	ovary

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