Variant report

Variant	rs73933313
Chromosome Location	chr19:56216239-56216240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56215867-56216264	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:56215957-56217007	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:56216163-56216676	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr19:56215980-56216239	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr19:56216025-56216872	U87	brain:	n/a	n/a
6	POLR2A	chr19:56216232-56216397	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:56216009-56216335	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:56214997-56220979	K562	blood:	n/a	n/a
9	POLR2A	chr19:56216135-56216421	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:56215856-56216256	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:56216203-56216367	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:56215983-56216624	A549	lung:	n/a	n/a
13	POLR2A	chr19:56216025-56216773	U87	brain:	n/a	n/a
14	POLR2A	chr19:56216031-56216415	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:56216159-56216742	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:56215160-56217154	SK-N-MC	brain:	n/a	n/a
17	MTA3	chr19:56215979-56216377	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:56216197-56216342	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:56215908-56216527	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:56215797-56216557	K562	blood:	n/a	n/a
21	POLR2A	chr19:56215931-56216318	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:56216110-56216589	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:56214868-56217148	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr19:56216162-56216611	HL-60	blood:	n/a	n/a
25	POLR2A	chr19:56215755-56216797	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr19:56216178-56216360	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr19:56215797-56217535	GM12891	blood:	n/a	n/a
28	POLR2A	chr19:56215988-56216841	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:56215820-56217054	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56185419..56191490-chr19:56212273..56216664,6	K562	blood:
2	chr19:56214734..56218976-chr19:56219559..56224015,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPN1-1	chr19:56215794-56216496	NONHSAT068073

No data

Variant related genes	Relation type
ENSG00000269574	TF binding region
ENSG00000268593	TF binding region
ENSG00000267865	TF binding region
ENSG00000063245	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000269574	Chromatin interaction
ENSG00000267865	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10404126	1.00[AMR][1000 genomes]
rs11881598	1.00[AMR][1000 genomes]
rs13382167	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28619929	1.00[AMR][1000 genomes]
rs9304768	1.00[AMR][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	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
2	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057383	chr19:56211031-56456028	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56188200-56218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:56191800-56218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:56195400-56217600	Weak transcription	Right Atrium	heart
4	chr19:56202600-56217000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:56206600-56218600	Weak transcription	HepG2	liver
6	chr19:56207000-56219200	Weak transcription	Psoas Muscle	Psoas
7	chr19:56207600-56216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:56207800-56216800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:56208000-56220000	Weak transcription	Fetal Lung	lung
10	chr19:56209000-56217800	Weak transcription	Hela-S3	cervix
11	chr19:56209000-56218000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:56209400-56218200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:56210000-56217800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:56210000-56217800	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:56210000-56218000	Weak transcription	Left Ventricle	heart
16	chr19:56210000-56218400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:56210000-56219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:56210000-56220000	Weak transcription	Fetal Brain Female	brain
19	chr19:56211200-56218000	Weak transcription	NHEK	skin
20	chr19:56211200-56220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:56212400-56217400	Weak transcription	Thymus	Thymus
22	chr19:56212400-56217600	Weak transcription	Aorta	Aorta
23	chr19:56212400-56217600	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:56212400-56217800	Weak transcription	Brain Germinal Matrix	brain
25	chr19:56212400-56218000	Weak transcription	Brain Anterior Caudate	brain
26	chr19:56212400-56218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:56212400-56218200	Weak transcription	HMEC	breast
28	chr19:56212400-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:56212400-56218400	Weak transcription	Liver	Liver
30	chr19:56212400-56218800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:56212400-56219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:56212400-56224000	Weak transcription	HSMM	muscle
33	chr19:56212600-56217600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:56212600-56218400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:56212600-56218800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:56213200-56217800	Weak transcription	Primary T cells from cord blood	blood
37	chr19:56213200-56218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:56213200-56219400	Weak transcription	Adipose Nuclei	Adipose
39	chr19:56214200-56217000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:56214600-56216400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr19:56214600-56216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr19:56214600-56218000	Weak transcription	K562	blood
43	chr19:56215000-56216400	Strong transcription	Dnd41	blood
44	chr19:56215000-56216600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:56215000-56216600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr19:56215000-56216600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:56215200-56216400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr19:56215200-56216400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:56215200-56216400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr19:56215200-56216400	ZNF genes & repeats	Placenta	Placenta

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