Variant report

Variant	rs66783290
Chromosome Location	chr19:37156918-37156919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37018139..37019685-chr19:37156038..37157932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254004	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1035777	0.90[ASN][1000 genomes]
rs10402182	0.90[ASN][1000 genomes]
rs10403456	0.89[ASN][1000 genomes]
rs10407919	0.95[ASN][1000 genomes]
rs11084861	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11666769	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11667894	0.94[ASN][1000 genomes]
rs11668432	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11668689	0.92[ASN][1000 genomes]
rs11669816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670914	0.88[ASN][1000 genomes]
rs11671382	0.90[ASN][1000 genomes]
rs11672098	0.86[ASN][1000 genomes]
rs12608459	0.92[ASN][1000 genomes]
rs12608512	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12610555	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12610572	0.88[ASN][1000 genomes]
rs1357879	0.84[ASN][1000 genomes]
rs1464830	0.94[ASN][1000 genomes]
rs1464831	0.94[ASN][1000 genomes]
rs1525133	0.88[ASN][1000 genomes]
rs1673082	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17272386	0.91[ASN][1000 genomes]
rs1985980	0.88[ASN][1000 genomes]
rs2052728	0.87[ASN][1000 genomes]
rs2162296	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194976	0.87[ASN][1000 genomes]
rs2912399	0.87[ASN][1000 genomes]
rs2912400	0.88[ASN][1000 genomes]
rs2912404	0.84[ASN][1000 genomes]
rs2912408	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912412	0.87[ASN][1000 genomes]
rs2912440	0.84[ASN][1000 genomes]
rs2912442	0.85[ASN][1000 genomes]
rs2912443	0.85[ASN][1000 genomes]
rs2912444	0.87[ASN][1000 genomes]
rs2912446	0.87[ASN][1000 genomes]
rs2945964	0.85[ASN][1000 genomes]
rs2945978	0.80[ASN][1000 genomes]
rs2967427	0.90[ASN][1000 genomes]
rs2967429	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967437	0.88[ASN][1000 genomes]
rs2967438	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2967439	0.86[ASN][1000 genomes]
rs2967440	0.86[ASN][1000 genomes]
rs2967442	0.86[ASN][1000 genomes]
rs2967459	0.90[ASN][1000 genomes]
rs2967461	0.82[ASN][1000 genomes]
rs2967463	0.89[ASN][1000 genomes]
rs2967464	0.85[ASN][1000 genomes]
rs3096620	0.87[ASN][1000 genomes]
rs3096637	0.85[ASN][1000 genomes]
rs3108593	0.81[ASN][1000 genomes]
rs3108605	0.90[ASN][1000 genomes]
rs35299345	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4806338	0.88[ASN][1000 genomes]
rs4806339	0.95[ASN][1000 genomes]
rs4806349	0.88[ASN][1000 genomes]
rs55940011	0.86[ASN][1000 genomes]
rs55965207	0.83[ASN][1000 genomes]
rs60213885	0.88[ASN][1000 genomes]
rs60297398	0.95[ASN][1000 genomes]
rs61457535	0.94[ASN][1000 genomes]
rs61628442	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6510551	0.87[ASN][1000 genomes]
rs66717711	0.88[ASN][1000 genomes]
rs67258954	0.89[ASN][1000 genomes]
rs67995015	0.95[ASN][1000 genomes]
rs68012004	0.95[ASN][1000 genomes]
rs7246216	0.88[ASN][1000 genomes]
rs7251805	0.92[ASN][1000 genomes]
rs73609113	0.88[ASN][1000 genomes]
rs7507224	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8100381	0.95[ASN][1000 genomes]
rs8108985	0.88[ASN][1000 genomes]
rs826987	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37134600-37157000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37153800-37157000	ZNF genes & repeats	A549	lung
3	chr19:37154200-37157000	ZNF genes & repeats	GM12878-XiMat	blood
4	chr19:37154200-37157200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr19:37155800-37157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:37156400-37157000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:37156400-37157200	Flanking Active TSS	Dnd41	blood
8	chr19:37156600-37157000	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:37156600-37157000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:37156600-37157000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:37156600-37157000	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr19:37156600-37157000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:37156600-37157000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
14	chr19:37156600-37157000	Flanking Active TSS	HepG2	liver
15	chr19:37156600-37157000	Flanking Active TSS	HMEC	breast
16	chr19:37156600-37157000	Flanking Active TSS	NHEK	skin
17	chr19:37156600-37157200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:37156600-37157200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr19:37156600-37157200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr19:37156600-37157400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:37156600-37157400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:37156600-37157400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:37156600-37157600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr19:37156600-37157600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:37156600-37157600	Flanking Active TSS	Liver	Liver
26	chr19:37156600-37157600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:37156600-37157600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr19:37156600-37158600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr19:37156600-37158600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:37156600-37158600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:37156600-37158600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:37156600-37158600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:37156600-37158600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:37156600-37158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:37156600-37158600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:37156600-37158600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:37156600-37158600	Active TSS	Colon Smooth Muscle	Colon
38	chr19:37156600-37158600	Active TSS	HSMM	muscle
39	chr19:37156600-37158600	Active TSS	NHDF-Ad	bronchial
40	chr19:37156600-37158600	Active TSS	NHLF	lung
41	chr19:37156600-37159400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr19:37156600-37159400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:37156600-37159600	Active TSS	Rectal Smooth Muscle	rectum
44	chr19:37156600-37160200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:37156800-37157000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr19:37156800-37157000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:37156800-37157000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:37156800-37157000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:37156800-37157000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:37156800-37157000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood

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