Variant report

Variant	rs2967452
Chromosome Location	chr19:37021010-37021011
allele	C/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	chr19:37019103..37021335-chr19:37062459..37064743,4	K562	blood:
2	chr19:37020966..37023894-chr19:37025965..37028005,2	K562	blood:
3	chr19:36978148..36981795-chr19:37018105..37021194,8	K562	blood:
4	chr19:37017852..37021325-chr19:37033943..37038779,6	K562	blood:
5	chr19:37018711..37023188-chr19:37060299..37065354,5	K562	blood:
6	chr19:36868756..36870628-chr19:37018916..37021157,2	MCF-7	breast:
7	chr19:37017989..37021035-chr19:37064029..37066517,3	MCF-7	breast:
8	chr19:36979323..36981752-chr19:37018816..37021173,2	MCF-7	breast:
9	chr19:37019843..37021429-chr19:37026140..37028875,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186020	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000266973	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2052730	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2912424	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2912434	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912436	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2912437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2912438	0.88[ASN][1000 genomes]
rs2912445	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945946	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2945960	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2945965	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945966	0.89[ASN][1000 genomes]
rs2945967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945968	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945970	0.80[ASN][1000 genomes]
rs2945974	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945977	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945979	0.83[ASN][1000 genomes]
rs2945987	0.80[ASN][1000 genomes]
rs2945988	0.84[ASN][1000 genomes]
rs2967434	0.80[ASN][1000 genomes]
rs2967435	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967448	0.81[ASN][1000 genomes]
rs2967449	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967450	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967451	0.84[ASN][1000 genomes]
rs2967457	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967462	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967471	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967505	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3107237	0.85[ASN][1000 genomes]
rs3107238	0.89[ASN][1000 genomes]
rs3111554	0.84[ASN][1000 genomes]
rs4561584	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37019800-37021200	ZNF genes & repeats	A549	lung
2	chr19:37020200-37023000	Weak transcription	Ovary	ovary
3	chr19:37020200-37024000	Weak transcription	Aorta	Aorta
4	chr19:37020400-37021400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:37020400-37021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:37020400-37022200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:37020400-37023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:37020400-37024400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:37020400-37024400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:37020400-37024600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:37020400-37025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:37020400-37025600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:37020400-37025800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:37020400-37025800	Weak transcription	Fetal Kidney	kidney
15	chr19:37020400-37025800	Weak transcription	Stomach Mucosa	stomach
16	chr19:37020400-37025800	Weak transcription	HSMM	muscle
17	chr19:37020400-37025800	Weak transcription	HSMMtube	muscle
18	chr19:37020400-37026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:37020400-37034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:37020600-37021200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:37020600-37021200	Enhancers	Fetal Brain Male	brain
22	chr19:37020600-37021400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:37020600-37021600	Weak transcription	Primary T cells from cord blood	blood
24	chr19:37020600-37021600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:37020600-37021600	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:37020600-37022000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:37020600-37022200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:37020600-37022200	Weak transcription	Fetal Lung	lung
29	chr19:37020600-37022400	Weak transcription	Brain Angular Gyrus	brain
30	chr19:37020600-37023200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:37020600-37023400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:37020600-37023600	Weak transcription	Brain Substantia Nigra	brain
33	chr19:37020600-37023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:37020600-37024000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:37020600-37024000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:37020600-37024000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:37020600-37024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr19:37020600-37024400	Weak transcription	Fetal Heart	heart
39	chr19:37020600-37024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:37020600-37025600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:37020600-37025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:37020600-37025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:37020600-37025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:37020600-37025800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:37020600-37025800	Weak transcription	Placenta	Placenta
46	chr19:37020600-37025800	Weak transcription	Right Ventricle	heart
47	chr19:37020600-37027600	Weak transcription	Hela-S3	cervix
48	chr19:37020800-37022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:37020800-37023000	Weak transcription	Pancreas	Pancrea
50	chr19:37021000-37021400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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