Variant report

Variant	rs3746266
Chromosome Location	chr19:18876309-18876310
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18874381..18876339-chr19:18897284..18899870,2	MCF-7	breast:
2	chr19:18597134..18600015-chr19:18874325..18877171,2	MCF-7	breast:
3	chr19:18810890..18813557-chr19:18875190..18876829,2	K562	blood:
4	chr19:18874101..18878371-chr19:18942511..18945645,5	MCF-7	breast:
5	chr19:18876184..18879018-chr19:18951649..18953895,2	K562	blood:
6	chr19:18871674..18877764-chr19:18941611..18944793,8	MCF-7	breast:
7	chr19:18669910..18672627-chr19:18873619..18876384,2	MCF-7	breast:
8	chr19:18875448..18876988-chr19:18887590..18889948,2	MCF-7	breast:
9	chr19:18872280..18874058-chr19:18875721..18877942,2	K562	blood:
10	chr19:18874269..18876482-chr19:19029002..19030543,2	K562	blood:
11	chr19:18698038..18701680-chr19:18871708..18876325,4	MCF-7	breast:
12	chr19:18874946..18876754-chr19:18941863..18943640,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105664	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000105700	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12609934	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611313	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975249	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17757406	0.84[EUR][1000 genomes]
rs1989888	0.87[ASN][1000 genomes]
rs2240014	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28494505	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3787050	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4808155	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56090467	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257846	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs730079	0.88[ASN][1000 genomes]
rs739638	0.85[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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	43 gene(s)	inside rSNPs	diseases
6	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
3	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18865000-18885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18865400-18879600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:18865400-18880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
8	chr19:18865600-18878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:18868000-18877400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr19:18868000-18878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:18868000-18885400	Weak transcription	Thymus	Thymus
14	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:18868600-18878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:18870800-18876400	Enhancers	Esophagus	oesophagus
17	chr19:18870800-18876600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:18872600-18876400	Enhancers	HSMMtube	muscle
19	chr19:18872800-18876400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr19:18873400-18876400	Enhancers	Pancreas	Pancrea
21	chr19:18873400-18878800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:18873600-18878200	Weak transcription	Fetal Brain Female	brain
23	chr19:18873800-18876400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr19:18873800-18878200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:18873800-18878400	Strong transcription	Fetal Intestine Small	intestine
26	chr19:18873800-18878800	Weak transcription	Brain Germinal Matrix	brain
27	chr19:18873800-18879800	Weak transcription	Brain Substantia Nigra	brain
28	chr19:18873800-18880000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr19:18873800-18880000	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:18873800-18881400	Weak transcription	Fetal Brain Male	brain
31	chr19:18873800-18885200	Weak transcription	Spleen	Spleen
32	chr19:18873800-18889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:18873800-18889200	Weak transcription	Left Ventricle	heart
34	chr19:18873800-18895600	Weak transcription	Ovary	ovary
35	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
36	chr19:18874000-18878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:18874000-18879600	Weak transcription	Colonic Mucosa	Colon
38	chr19:18874000-18881200	Weak transcription	Brain Anterior Caudate	brain
39	chr19:18874000-18881600	Weak transcription	Fetal Kidney	kidney
40	chr19:18874000-18885800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:18874000-18887000	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:18874200-18876400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18874200-18878600	Strong transcription	Fetal Stomach	stomach
44	chr19:18874200-18886400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:18874400-18878600	Weak transcription	Fetal Heart	heart
46	chr19:18874400-18878600	Weak transcription	Fetal Lung	lung
47	chr19:18874400-18885600	Weak transcription	Right Ventricle	heart
48	chr19:18874600-18876400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr19:18874600-18876400	Enhancers	NHDF-Ad	bronchial
50	chr19:18874800-18876400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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