Variant report

Variant	rs499445
Chromosome Location	chr19:21503652-21503653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21503005..21505616-chr19:21507489..21509547,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1114305	0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1875256	0.86[ASN][1000 genomes]
rs2086319	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2434996	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2562402	0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562409	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562415	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2562435	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2562438	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2562456	0.92[CHD][hapmap];0.80[JPT][hapmap]
rs2619823	0.82[ASN][1000 genomes]
rs2650793	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs2650797	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2650798	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2650805	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs2650842	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2650849	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2650851	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279804	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279805	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs279810	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279811	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279812	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279814	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279815	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279816	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279818	0.81[ASN][1000 genomes]
rs279819	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279820	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2914626	0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914627	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2914635	0.80[AMR][1000 genomes]
rs2914645	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2928188	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2928209	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2928211	0.84[ASN][1000 genomes]
rs2928216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2928218	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2937157	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2937174	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2968022	0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2968023	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2968024	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2968040	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2968041	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2968045	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2968046	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968066	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968082	0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2968086	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs472472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475162	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476376	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs478046	0.92[EUR][1000 genomes]
rs487991	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs489613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs489845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs492271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504026	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs508656	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs511469	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs516519	0.90[ASN][1000 genomes]
rs527060	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs540637	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs540714	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs541639	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs547516	0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571937	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57740	0.86[CHD][hapmap]
rs583680	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs586144	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs598959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs600186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs609806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs612877	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627522	0.93[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs631436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632221	0.86[ASN][1000 genomes]
rs6511253	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs651454	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661453	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8102235	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8112775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924485	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
2	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
3	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21481600-21505600	Weak transcription	K562	blood
5	chr19:21484400-21511000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:21485400-21508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:21485400-21511200	Weak transcription	Gastric	stomach
8	chr19:21485600-21504200	Weak transcription	Pancreas	Pancrea
9	chr19:21487600-21508600	Weak transcription	Fetal Kidney	kidney
10	chr19:21487600-21511200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:21488000-21505600	Weak transcription	Right Ventricle	heart
12	chr19:21488200-21511200	Weak transcription	Aorta	Aorta
13	chr19:21489000-21510800	Weak transcription	NH-A	brain
14	chr19:21489600-21506000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:21489600-21509000	Weak transcription	Placenta	Placenta
16	chr19:21489800-21504000	Weak transcription	Osteobl	bone
17	chr19:21490200-21508800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:21490200-21509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:21492400-21506200	Weak transcription	Fetal Lung	lung
20	chr19:21492400-21508600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:21492400-21508800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:21492400-21509000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:21492600-21509000	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:21492800-21506600	Weak transcription	Fetal Thymus	thymus
25	chr19:21493000-21509200	Weak transcription	Fetal Intestine Small	intestine
26	chr19:21493600-21505400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:21494200-21504600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:21495400-21508400	Weak transcription	Fetal Brain Female	brain
29	chr19:21496200-21504600	Weak transcription	HSMMtube	muscle
30	chr19:21496400-21505600	Weak transcription	HepG2	liver
31	chr19:21496800-21509800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:21497400-21508600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:21497600-21511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:21498000-21506800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:21498200-21504000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:21498400-21504000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:21498400-21510600	Weak transcription	HUVEC	blood vessel
38	chr19:21498400-21511200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:21498800-21510400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:21499200-21506000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:21499800-21505200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:21500000-21509400	Weak transcription	Fetal Stomach	stomach
43	chr19:21500200-21505000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:21500400-21506200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:21500600-21505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:21500600-21506200	ZNF genes & repeats	GM12878-XiMat	blood
47	chr19:21500600-21509000	Weak transcription	Primary T cells from cord blood	blood
48	chr19:21500800-21506800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:21501000-21504000	Weak transcription	Right Atrium	heart
50	chr19:21501000-21504200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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