Variant report

Variant	rs3746086
Chromosome Location	chr19:40030541-40030542
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40029767..40032366-chr19:40330875..40333585,2	K562	blood:
2	chr19:39923941..39928347-chr19:40027705..40030840,3	MCF-7	breast:
3	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
4	chr19:39934417..39936200-chr19:40029570..40032204,2	MCF-7	breast:
5	chr19:39901022..39904778-chr19:40029097..40032980,4	MCF-7	breast:
6	chr19:39925083..39928891-chr19:40028576..40030872,3	K562	blood:
7	chr19:39890843..39892874-chr19:40028629..40030722,2	MCF-7	breast:
8	chr19:39880332..39881919-chr19:40028970..40031203,2	K562	blood:
9	chr19:39959218..39961854-chr19:40028748..40031663,2	K562	blood:
10	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
11	chr19:40030384..40030989-chr2:61697310..61698275,2	Hela-S3	cervix:
12	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
13	chr10:32217398..32217991-chr19:40030471..40031244,2	HCT-116	colon:
14	chr19:40024943..40026873-chr19:40027805..40030767,4	MCF-7	breast:
15	chr19:39931001..39933171-chr19:40029480..40031756,2	MCF-7	breast:
16	chr19:39925003..39927867-chr19:40028857..40032200,4	K562	blood:
17	chr19:39923771..39928393-chr19:40029138..40032183,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105193	Chromatin interaction
ENSG00000115464	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000269584	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000006712	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12608773	0.83[ASN][1000 genomes]
rs12610833	0.93[ASN][1000 genomes]
rs12611125	0.87[ASN][1000 genomes]
rs12972285	0.82[ASN][1000 genomes]
rs12972675	0.85[ASN][1000 genomes]
rs12973775	0.93[ASN][1000 genomes]
rs12978311	0.85[AMR][1000 genomes]
rs12980249	0.93[ASN][1000 genomes]
rs34856311	0.91[ASN][1000 genomes]
rs34885802	0.85[ASN][1000 genomes]
rs35038530	0.85[ASN][1000 genomes]
rs35939822	0.88[ASN][1000 genomes]
rs55994613	0.93[ASN][1000 genomes]
rs59485553	0.93[ASN][1000 genomes]
rs60587381	0.93[ASN][1000 genomes]
rs7247184	0.82[ASN][1000 genomes]
rs7247218	0.82[ASN][1000 genomes]
rs7257553	0.83[ASN][1000 genomes]
rs7257904	0.83[ASN][1000 genomes]
rs7258348	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
4	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911694	chr19:40015907-40031369	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40029000-40030600	Active TSS	Right Atrium	heart
2	chr19:40029200-40031000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:40029200-40031000	Active TSS	Fetal Muscle Leg	muscle
4	chr19:40029200-40031000	Active TSS	Psoas Muscle	Psoas
5	chr19:40029200-40031200	Active TSS	Brain Angular Gyrus	brain
6	chr19:40029200-40031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:40029200-40031200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:40029200-40031200	Active TSS	Thymus	Thymus
9	chr19:40029200-40031400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:40029400-40031000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:40029400-40031000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40029400-40031000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:40029400-40031200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:40029600-40030800	Active TSS	Right Ventricle	heart
15	chr19:40029600-40031000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:40029600-40031000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:40029600-40031000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:40029600-40031000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:40029600-40031000	Active TSS	Fetal Kidney	kidney
20	chr19:40029600-40031000	Active TSS	Placenta	Placenta
21	chr19:40029600-40031000	Active TSS	Fetal Thymus	thymus
22	chr19:40029600-40031000	Active TSS	Ovary	ovary
23	chr19:40029600-40031200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:40029600-40031200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:40029600-40031200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:40029600-40031200	Active TSS	NHDF-Ad	bronchial
27	chr19:40029800-40030800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr19:40029800-40030800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:40029800-40030800	Active TSS	Gastric	stomach
30	chr19:40029800-40030800	Active TSS	Pancreas	Pancrea
31	chr19:40029800-40031000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:40029800-40031000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:40029800-40031000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:40029800-40031000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:40029800-40031000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:40029800-40031000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:40029800-40031000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr19:40029800-40031000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:40029800-40031000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr19:40029800-40031000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:40029800-40031000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr19:40029800-40031000	Active TSS	Fetal Heart	heart
43	chr19:40029800-40031000	Active TSS	Fetal Muscle Trunk	muscle
44	chr19:40029800-40031000	Active TSS	Fetal Stomach	stomach
45	chr19:40029800-40031000	Active TSS	Left Ventricle	heart
46	chr19:40029800-40031000	Active TSS	HMEC	breast
47	chr19:40029800-40031000	Active TSS	HSMMtube	muscle
48	chr19:40029800-40031000	Active TSS	NHLF	lung
49	chr19:40029800-40031200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:40029800-40031200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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