Variant report

Variant	rs73046809
Chromosome Location	chr19:36032981-36032982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36032731-36034910	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:36032663-36033642	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:36032913-36033123	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:36032901-36032998	K562	blood:	n/a	n/a
5	POLR2A	chr19:36032880-36033122	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:36032803-36033168	A549	lung:	n/a	n/a
7	POLR2A	chr19:36032787-36033070	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr19:36032538-36033354	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr19:36032403-36033460	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr19:36032867-36033629	K562	blood:	n/a	n/a
11	POLR2A	chr19:36032637-36033109	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr19:36032850-36035315	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35999552..36006251-chr19:36031120..36038105,13	MCF-7	breast:
2	chr19:36016830..36019382-chr19:36032659..36035461,2	K562	blood:
3	chr19:36032860..36034868-chr19:36034870..36037777,2	K562	blood:

No data

Variant related genes	Relation type
TMEM147	TF binding region
ENSG00000161249	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000189001	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58199607	1.00[AFR][1000 genomes]
rs60066162	1.00[AFR][1000 genomes]
rs60182696	1.00[AFR][1000 genomes]
rs61396797	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv911628	chr19:35999491-36056253	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36025000-36033400	Weak transcription	Gastric	stomach
2	chr19:36025000-36035200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:36025000-36035200	Weak transcription	Right Atrium	heart
4	chr19:36025000-36035200	Weak transcription	NHDF-Ad	bronchial
5	chr19:36025000-36035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36025200-36035200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:36025400-36034600	Weak transcription	Pancreas	Pancrea
8	chr19:36025400-36035400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:36025400-36035600	Weak transcription	Primary T cells from cord blood	blood
10	chr19:36025600-36033400	Weak transcription	NHLF	lung
11	chr19:36025600-36035200	Weak transcription	Primary B cells from cord blood	blood
12	chr19:36025600-36035400	Weak transcription	Thymus	Thymus
13	chr19:36025800-36035400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:36026400-36035200	Weak transcription	Brain Anterior Caudate	brain
15	chr19:36026600-36033000	Weak transcription	Fetal Muscle Leg	muscle
16	chr19:36026600-36035400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:36027000-36033200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:36027000-36035200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:36027400-36035000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:36027600-36033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:36027800-36035400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:36028000-36035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:36028000-36035200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:36028000-36035400	Weak transcription	Fetal Lung	lung
25	chr19:36028200-36033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:36028200-36035400	Weak transcription	Fetal Brain Male	brain
27	chr19:36028400-36033200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:36028800-36035000	Weak transcription	Colonic Mucosa	Colon
29	chr19:36029000-36033200	Weak transcription	Fetal Brain Female	brain
30	chr19:36029200-36034800	Weak transcription	Hela-S3	cervix
31	chr19:36029400-36033000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:36029400-36035200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:36029400-36035200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:36030000-36033200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:36030000-36034000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:36030000-36034800	Weak transcription	K562	blood
37	chr19:36030400-36033000	Weak transcription	Spleen	Spleen
38	chr19:36030400-36035200	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:36030600-36033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:36030800-36034200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:36030800-36034800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:36030800-36035000	Strong transcription	Fetal Intestine Small	intestine
43	chr19:36031000-36033800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:36031000-36034000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:36031000-36034000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:36031000-36034200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:36031000-36034200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:36031000-36034600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:36031000-36034800	Strong transcription	Fetal Stomach	stomach
50	chr19:36031000-36035000	Weak transcription	Lung	lung

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