Variant report

Variant	rs2912408
Chromosome Location	chr19:37067553-37067554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37063014..37065659-chr19:37066533..37068326,2	MCF-7	breast:
2	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
3	chr19:37017864..37019585-chr19:37067468..37069306,2	K562	blood:
4	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
5	chr19:37065150..37067798-chr19:37072514..37074047,2	K562	blood:

Variant related genes	Relation type
ENSG00000186020	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1035777	0.92[ASN][1000 genomes]
rs10402182	0.83[ASN][1000 genomes]
rs10403456	0.81[ASN][1000 genomes]
rs10407919	0.87[ASN][1000 genomes]
rs11084861	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11666769	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11667894	0.86[ASN][1000 genomes]
rs11668432	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11668689	0.90[ASN][1000 genomes]
rs11669816	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11671382	0.82[ASN][1000 genomes]
rs12608459	0.90[ASN][1000 genomes]
rs12608512	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12610555	0.86[ASN][1000 genomes]
rs1464830	0.88[ASN][1000 genomes]
rs1464831	0.88[ASN][1000 genomes]
rs1673082	0.83[ASN][1000 genomes]
rs17272386	0.83[ASN][1000 genomes]
rs1985980	0.89[ASN][1000 genomes]
rs2052728	0.95[ASN][1000 genomes]
rs2162296	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194976	0.95[ASN][1000 genomes]
rs2912399	0.95[ASN][1000 genomes]
rs2912400	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2912404	0.92[ASN][1000 genomes]
rs2912412	0.95[ASN][1000 genomes]
rs2912440	0.92[ASN][1000 genomes]
rs2912442	0.94[ASN][1000 genomes]
rs2912443	0.93[ASN][1000 genomes]
rs2912444	0.95[ASN][1000 genomes]
rs2912446	0.95[ASN][1000 genomes]
rs2945964	0.94[ASN][1000 genomes]
rs2945978	0.86[ASN][1000 genomes]
rs2967427	0.92[ASN][1000 genomes]
rs2967429	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967436	0.87[ASN][1000 genomes]
rs2967437	0.90[ASN][1000 genomes]
rs2967438	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967439	0.94[ASN][1000 genomes]
rs2967440	0.94[ASN][1000 genomes]
rs2967442	0.94[ASN][1000 genomes]
rs2967459	0.92[ASN][1000 genomes]
rs2967461	0.90[ASN][1000 genomes]
rs2967463	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967464	0.94[ASN][1000 genomes]
rs2967473	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967545	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3096620	0.95[ASN][1000 genomes]
rs3096637	0.94[ASN][1000 genomes]
rs3108593	0.89[ASN][1000 genomes]
rs3108605	0.92[ASN][1000 genomes]
rs35299345	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4806338	0.81[ASN][1000 genomes]
rs4806339	0.87[ASN][1000 genomes]
rs60297398	0.87[ASN][1000 genomes]
rs61457535	0.86[ASN][1000 genomes]
rs61628442	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6510551	0.95[ASN][1000 genomes]
rs66783290	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67258954	0.81[ASN][1000 genomes]
rs67995015	0.87[ASN][1000 genomes]
rs68012004	0.87[ASN][1000 genomes]
rs7246216	0.81[ASN][1000 genomes]
rs7251805	0.90[ASN][1000 genomes]
rs7507224	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8100381	0.87[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	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37064600-37068800	ZNF genes & repeats	A549	lung
2	chr19:37065200-37068000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37065200-37068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:37065400-37067800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:37065400-37068000	Weak transcription	Gastric	stomach
6	chr19:37065400-37068000	Weak transcription	Left Ventricle	heart
7	chr19:37065600-37067600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:37065600-37067600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:37065600-37067800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:37065600-37067800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:37065600-37067800	Weak transcription	Primary B cells from cord blood	blood
12	chr19:37065600-37067800	Weak transcription	Colonic Mucosa	Colon
13	chr19:37065600-37067800	Weak transcription	Esophagus	oesophagus
14	chr19:37065600-37067800	Weak transcription	Ovary	ovary
15	chr19:37065600-37067800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:37065600-37068000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:37065600-37068000	Weak transcription	Brain Germinal Matrix	brain
18	chr19:37065600-37068000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:37065600-37068000	Weak transcription	Lung	lung
20	chr19:37065600-37068000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:37065600-37068000	Weak transcription	Spleen	Spleen
22	chr19:37065600-37068200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:37065600-37068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:37065600-37069600	Weak transcription	Psoas Muscle	Psoas
25	chr19:37065600-37070200	Weak transcription	HSMMtube	muscle
26	chr19:37065600-37070200	Weak transcription	NHLF	lung
27	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:37065800-37067800	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:37065800-37067800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:37065800-37067800	Weak transcription	NHDF-Ad	bronchial
32	chr19:37065800-37067800	Weak transcription	NHEK	skin
33	chr19:37065800-37068000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:37065800-37068000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:37065800-37068000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:37065800-37068400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:37065800-37068400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:37065800-37068400	Weak transcription	Right Atrium	heart
39	chr19:37065800-37069400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:37065800-37070000	Weak transcription	Brain Angular Gyrus	brain
41	chr19:37065800-37071200	Weak transcription	Brain Substantia Nigra	brain
42	chr19:37065800-37072000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr19:37065800-37072600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:37065800-37075200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:37065800-37076600	Weak transcription	Stomach Mucosa	stomach
46	chr19:37065800-37078200	Weak transcription	Right Ventricle	heart
47	chr19:37066000-37067600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:37066000-37067800	Weak transcription	Fetal Brain Female	brain
49	chr19:37066000-37067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:37066000-37067800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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