Variant report

Variant	rs10427033
Chromosome Location	chr19:36600743-36600744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36596983-36603152	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36600201..36601844-chr19:36631051..36633410,2	K562	blood:
2	chr19:36597873..36601557-chr19:36602123..36605335,7	K562	blood:
3	chr19:36596596..36601731-chr19:36602791..36606754,6	K562	blood:
4	chr19:36593756..36597019-chr19:36598726..36601991,4	K562	blood:
5	chr19:36487223..36488748-chr19:36599253..36601474,2	K562	blood:
6	chr19:36594277..36596518-chr19:36598748..36601596,3	MCF-7	breast:

No data

Variant related genes	Relation type
TBCB	TF binding region
OVOL3	TF binding region
ENSG00000105258	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000105261	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10406862	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10419924	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420345	0.81[ASN][1000 genomes]
rs10422055	0.83[ASN][1000 genomes]
rs10425700	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11538454	0.89[ASN][1000 genomes]
rs11666192	0.95[ASN][1000 genomes]
rs11669890	0.88[ASN][1000 genomes]
rs12608517	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2074435	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2075472	0.95[ASN][1000 genomes]
rs2141959	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2301734	0.91[ASN][1000 genomes]
rs2301737	0.93[ASN][1000 genomes]
rs2871649	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555271	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806249	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4806254	0.81[AMR][1000 genomes]
rs4806262	0.81[ASN][1000 genomes]
rs4806271	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806273	0.85[ASN][1000 genomes]
rs4806276	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55849299	0.87[ASN][1000 genomes]
rs7250364	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251912	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7258807	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73036134	0.94[ASN][1000 genomes]
rs8112640	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
2	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
5	chr19:36568800-36601400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:36572400-36602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:36573800-36602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36574200-36602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
10	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
11	chr19:36585000-36601600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:36585000-36602400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:36585200-36604400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:36588400-36604800	Weak transcription	NH-A	brain
15	chr19:36590200-36604600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:36590400-36605000	Weak transcription	Aorta	Aorta
17	chr19:36590600-36604800	Weak transcription	Psoas Muscle	Psoas
18	chr19:36592200-36602400	Weak transcription	Brain Substantia Nigra	brain
19	chr19:36592400-36604800	Weak transcription	Right Atrium	heart
20	chr19:36593200-36602600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:36593400-36603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:36594000-36602400	Weak transcription	Fetal Lung	lung
23	chr19:36594000-36603400	Weak transcription	Hela-S3	cervix
24	chr19:36594200-36602400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:36594400-36601400	Weak transcription	Liver	Liver
26	chr19:36594800-36603600	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:36594800-36604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:36595000-36601800	Weak transcription	Gastric	stomach
29	chr19:36595000-36602600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:36595000-36603600	Weak transcription	HepG2	liver
31	chr19:36595200-36601400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:36595600-36603400	Weak transcription	Brain Angular Gyrus	brain
33	chr19:36595600-36603400	Weak transcription	HSMM	muscle
34	chr19:36595600-36603400	Weak transcription	HUVEC	blood vessel
35	chr19:36595600-36604000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:36595800-36604000	Weak transcription	HMEC	breast
37	chr19:36596200-36601400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:36596200-36601600	Weak transcription	Adipose Nuclei	Adipose
39	chr19:36596200-36603400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:36596200-36603800	Weak transcription	GM12878-XiMat	blood
41	chr19:36596200-36604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:36596400-36601000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:36596400-36601400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:36596400-36601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:36596400-36601400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:36596400-36601600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:36596400-36601600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36596400-36601600	Weak transcription	Fetal Intestine Large	intestine
49	chr19:36596400-36601600	Weak transcription	Placenta	Placenta
50	chr19:36596400-36601600	Weak transcription	Lung	lung

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