Variant report

Variant	rs2162296
Chromosome Location	chr19:37100250-37100251
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	chr19:37094753..37097505-chr19:37099237..37101505,2	K562	blood:

Variant related genes	Relation type
ENSG00000186020	Chromatin interaction
ENSG00000161298	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1035777	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10402182	0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10403456	0.84[ASN][1000 genomes]
rs10407919	0.90[ASN][1000 genomes]
rs11084861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11666769	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11667894	0.90[ASN][1000 genomes]
rs11668432	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668689	0.94[ASN][1000 genomes]
rs11669816	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670914	0.83[ASN][1000 genomes]
rs11671382	0.86[ASN][1000 genomes]
rs11672098	0.82[ASN][1000 genomes]
rs12608459	0.93[ASN][1000 genomes]
rs12608512	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12610555	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12610572	0.83[ASN][1000 genomes]
rs1357879	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs1464830	0.92[ASN][1000 genomes]
rs1464831	0.92[ASN][1000 genomes]
rs1525133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1673082	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17272386	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1985980	0.92[ASN][1000 genomes]
rs2052728	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2194976	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912399	0.92[ASN][1000 genomes]
rs2912400	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912404	0.89[ASN][1000 genomes]
rs2912408	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2912412	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912440	0.89[ASN][1000 genomes]
rs2912442	0.90[ASN][1000 genomes]
rs2912443	0.90[ASN][1000 genomes]
rs2912444	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912446	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2945964	0.90[ASN][1000 genomes]
rs2945978	0.85[ASN][1000 genomes]
rs2967427	0.94[ASN][1000 genomes]
rs2967429	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967436	0.95[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2967437	0.92[ASN][1000 genomes]
rs2967438	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967439	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2967440	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2967442	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2967459	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2967461	0.87[ASN][1000 genomes]
rs2967463	0.94[ASN][1000 genomes]
rs2967464	0.90[ASN][1000 genomes]
rs2967473	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2967545	0.80[ASN][1000 genomes]
rs3096620	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3096637	0.90[ASN][1000 genomes]
rs3108593	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3108605	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs35299345	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806338	0.84[ASN][1000 genomes]
rs4806339	0.90[ASN][1000 genomes]
rs4806349	0.83[ASN][1000 genomes]
rs55940011	0.82[ASN][1000 genomes]
rs60213885	0.83[ASN][1000 genomes]
rs60297398	0.90[ASN][1000 genomes]
rs61457535	0.90[ASN][1000 genomes]
rs61628442	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6510551	0.92[ASN][1000 genomes]
rs66717711	0.83[ASN][1000 genomes]
rs66783290	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67258954	0.84[ASN][1000 genomes]
rs67995015	0.90[ASN][1000 genomes]
rs68012004	0.90[ASN][1000 genomes]
rs7246216	0.84[ASN][1000 genomes]
rs7251805	0.94[ASN][1000 genomes]
rs73609113	0.83[ASN][1000 genomes]
rs7507224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8100381	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs8108985	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs826987	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37096800-37100400	Weak transcription	Psoas Muscle	Psoas
2	chr19:37096800-37100600	Weak transcription	Fetal Intestine Large	intestine
3	chr19:37096800-37104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:37096800-37110000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37097000-37100400	Weak transcription	Right Ventricle	heart
6	chr19:37097000-37100400	Weak transcription	HSMMtube	muscle
7	chr19:37097000-37100600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:37097000-37100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:37097000-37100800	Weak transcription	Aorta	Aorta
10	chr19:37097000-37100800	Weak transcription	Spleen	Spleen
11	chr19:37097000-37102400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:37097000-37102400	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:37097000-37104400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:37097000-37106000	Weak transcription	Fetal Thymus	thymus
15	chr19:37097000-37106800	Weak transcription	Stomach Mucosa	stomach
16	chr19:37097000-37107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:37097000-37107000	Weak transcription	Small Intestine	intestine
18	chr19:37097000-37107400	Weak transcription	HUVEC	blood vessel
19	chr19:37097000-37107800	Weak transcription	Gastric	stomach
20	chr19:37097000-37112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:37097200-37100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:37097200-37100400	Weak transcription	Fetal Kidney	kidney
23	chr19:37097200-37100400	Weak transcription	NH-A	brain
24	chr19:37097200-37100400	Weak transcription	Osteobl	bone
25	chr19:37097200-37100600	Weak transcription	NHDF-Ad	bronchial
26	chr19:37097200-37100800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:37097200-37100800	Weak transcription	Fetal Stomach	stomach
28	chr19:37097200-37101000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:37097200-37101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:37097200-37101800	Weak transcription	Thymus	Thymus
31	chr19:37097200-37102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:37097200-37102400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:37097200-37102600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:37097200-37102600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:37097200-37102800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:37097200-37104400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:37097200-37104800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:37097200-37105600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:37097200-37109600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:37097200-37110000	Weak transcription	NHLF	lung
41	chr19:37097400-37100800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:37097400-37100800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:37097400-37105200	Weak transcription	HepG2	liver
44	chr19:37097600-37100400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:37097600-37102400	Weak transcription	Fetal Brain Male	brain
46	chr19:37098000-37101600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr19:37098000-37103400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:37098000-37103600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:37098000-37104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:37098000-37106200	Strong transcription	Brain Hippocampus Middle	brain

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