Variant report

Variant	rs891172
Chromosome Location	chr19:42413149-42413150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42400938..42403112-chr19:42412847..42414847,2	MCF-7	breast:
2	chr19:42411008..42413739-chr19:42433473..42435973,2	K562	blood:
3	chr19:42407772..42411584-chr19:42411987..42415149,3	MCF-7	breast:
4	chr19:42364123..42365765-chr19:42410876..42413809,2	K562	blood:
5	chr19:42404765..42407513-chr19:42412043..42413976,2	MCF-7	breast:
6	chr19:42406370..42409595-chr19:42409748..42413169,6	K562	blood:
7	chr19:42407893..42409933-chr19:42411408..42413461,2	MCF-7	breast:
8	chr19:42386109..42390387-chr19:42411996..42416642,6	K562	blood:
9	chr19:42400409..42404033-chr19:42410840..42416491,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105372	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10401189	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10401937	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10402667	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403081	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417495	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11878536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11878555	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12104228	1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16975619	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288509	0.84[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288510	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288511	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288512	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303798	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28396197	0.89[AMR][1000 genomes]
rs28521795	0.89[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28706300	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3745222	0.97[CHD][hapmap];1.00[JPT][hapmap]
rs6509003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717225	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252790	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7252800	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253691	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260129	0.83[AMR][1000 genomes]
rs73550603	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73550610	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73550618	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109784	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8109959	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8110305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8113339	0.84[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8113686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs891169	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs891170	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs891171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv3423326	chr19:42410937-42413485	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv3444529	chr19:42411162-42413160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42392600-42413600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:42393400-42413600	Strong transcription	Thymus	Thymus
5	chr19:42396800-42415200	Strong transcription	Dnd41	blood
6	chr19:42397400-42413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:42398800-42414000	Strong transcription	Fetal Thymus	thymus
8	chr19:42403000-42413200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:42406800-42413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:42407000-42413800	Weak transcription	HUVEC	blood vessel
11	chr19:42408000-42413600	Strong transcription	NHLF	lung
12	chr19:42408000-42414200	Weak transcription	Fetal Kidney	kidney
13	chr19:42408400-42414200	Weak transcription	K562	blood
14	chr19:42408600-42413600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:42409000-42413200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:42409200-42413200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:42409400-42413200	Strong transcription	Fetal Stomach	stomach
18	chr19:42409400-42413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:42409400-42414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42409600-42413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42409600-42413200	Weak transcription	HSMM	muscle
22	chr19:42409600-42413600	Weak transcription	NHDF-Ad	bronchial
23	chr19:42409800-42414400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:42409800-42414400	Weak transcription	HSMMtube	muscle
25	chr19:42410000-42414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:42410200-42413400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:42410200-42414000	Strong transcription	Fetal Intestine Small	intestine
28	chr19:42410200-42414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:42410400-42413200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:42410600-42413600	Weak transcription	HepG2	liver
31	chr19:42410600-42414000	Weak transcription	Brain Anterior Caudate	brain
32	chr19:42410600-42415400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:42410800-42413600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:42410800-42415000	Weak transcription	NH-A	brain
35	chr19:42411000-42414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:42411000-42414400	Weak transcription	NHEK	skin
37	chr19:42411200-42414400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:42411200-42414800	Weak transcription	Fetal Lung	lung
39	chr19:42411200-42415000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:42411200-42415200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:42411200-42415800	Weak transcription	Primary B cells from cord blood	blood
42	chr19:42411400-42413400	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:42411400-42413400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:42411400-42413600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:42411400-42413800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:42411400-42413800	Weak transcription	Aorta	Aorta
47	chr19:42411400-42414400	Weak transcription	Brain Angular Gyrus	brain
48	chr19:42411400-42414600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:42411400-42414800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:42411400-42414800	Weak transcription	Small Intestine	intestine

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