Variant report

Variant	rs28399632
Chromosome Location	chr19:45322813-45322814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45320594-45324393	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
ENSG00000187244	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10402103	1.00[AFR][1000 genomes]
rs10404441	1.00[AFR][1000 genomes]
rs10410517	0.89[AFR][1000 genomes]
rs10415477	1.00[AFR][1000 genomes]
rs10426988	1.00[AFR][1000 genomes]
rs28528835	0.89[AFR][1000 genomes]
rs9967601	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3332339	chr19:45321161-45351386	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
2	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
7	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
8	chr19:45314600-45323800	Strong transcription	Fetal Stomach	stomach
9	chr19:45314600-45326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:45315800-45324200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:45316800-45324200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr19:45317200-45323800	Weak transcription	Esophagus	oesophagus
13	chr19:45317400-45323600	Weak transcription	HUVEC	blood vessel
14	chr19:45317600-45323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:45317600-45323800	Weak transcription	Placenta	Placenta
16	chr19:45318000-45323400	Weak transcription	Ovary	ovary
17	chr19:45318000-45324000	Weak transcription	NHLF	lung
18	chr19:45318400-45326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:45318800-45323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:45319000-45324200	Weak transcription	NHEK	skin
21	chr19:45319000-45326400	Weak transcription	Gastric	stomach
22	chr19:45319000-45326800	Weak transcription	Fetal Kidney	kidney
23	chr19:45319200-45323400	Weak transcription	Adipose Nuclei	Adipose
24	chr19:45319200-45325400	Weak transcription	HMEC	breast
25	chr19:45319200-45326400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:45320600-45323000	Strong transcription	Aorta	Aorta
27	chr19:45320600-45324200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr19:45320800-45324200	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr19:45321000-45324200	Genic enhancers	Fetal Intestine Small	intestine
30	chr19:45321000-45327000	Enhancers	Fetal Heart	heart
31	chr19:45321200-45323000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:45321400-45324200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:45321400-45325600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:45321600-45324000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:45321600-45326400	Weak transcription	Liver	Liver
36	chr19:45321800-45323400	Strong transcription	Pancreas	Pancrea
37	chr19:45321800-45324200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:45322000-45323600	Weak transcription	Colonic Mucosa	Colon
39	chr19:45322000-45323600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:45322000-45323800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr19:45322000-45324200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:45322000-45326200	Weak transcription	A549	lung
43	chr19:45322000-45326400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:45322000-45326400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:45322200-45323000	Strong transcription	Fetal Lung	lung
46	chr19:45322200-45324000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:45322400-45323000	Strong transcription	HepG2	liver
48	chr19:45322600-45323000	Genic enhancers	Right Ventricle	heart
49	chr19:45322600-45323600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:45322600-45324200	Genic enhancers	Lung	lung

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