Variant report

Variant	rs13382167
Chromosome Location	chr19:56216656-56216657
allele	A/G
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	chr19:56216610-56216879	HUVEC	blood vessel:	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	chr19:56216025-56216872	U87	brain:	n/a	n/a
5	POLR2A	chr19:56214997-56220979	K562	blood:	n/a	n/a
6	POLR2A	chr19:56216025-56216773	U87	brain:	n/a	n/a
7	POLR2A	chr19:56216612-56216719	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:56216159-56216742	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr19:56215160-56217154	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:56216362-56216886	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:56214868-56217148	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr19:56215755-56216797	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr19:56215797-56217535	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:56215988-56216841	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:56215820-56217054	Hela-S3	cervix:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000269574	TF binding region
ENSG00000268593	TF binding region
ENSG00000267865	TF binding region
ENSG00000267865	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000269574	Chromatin interaction
ENSG00000267523	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]
rs28619929	1.00[AMR][1000 genomes]
rs73933313	1.00[AMR][1000 genomes];1.00[ASN][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:82 , 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	chr19:56207800-56216800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:56208000-56220000	Weak transcription	Fetal Lung	lung
9	chr19:56209000-56217800	Weak transcription	Hela-S3	cervix
10	chr19:56209000-56218000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:56209400-56218200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:56210000-56217800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:56210000-56217800	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:56210000-56218000	Weak transcription	Left Ventricle	heart
15	chr19:56210000-56218400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56210000-56219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:56210000-56220000	Weak transcription	Fetal Brain Female	brain
18	chr19:56211200-56218000	Weak transcription	NHEK	skin
19	chr19:56211200-56220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:56212400-56217400	Weak transcription	Thymus	Thymus
21	chr19:56212400-56217600	Weak transcription	Aorta	Aorta
22	chr19:56212400-56217600	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:56212400-56217800	Weak transcription	Brain Germinal Matrix	brain
24	chr19:56212400-56218000	Weak transcription	Brain Anterior Caudate	brain
25	chr19:56212400-56218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:56212400-56218200	Weak transcription	HMEC	breast
27	chr19:56212400-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:56212400-56218400	Weak transcription	Liver	Liver
29	chr19:56212400-56218800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:56212400-56219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:56212400-56224000	Weak transcription	HSMM	muscle
32	chr19:56212600-56217600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:56212600-56218400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:56212600-56218800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:56213200-56217800	Weak transcription	Primary T cells from cord blood	blood
36	chr19:56213200-56218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:56213200-56219400	Weak transcription	Adipose Nuclei	Adipose
38	chr19:56214200-56217000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:56214600-56218000	Weak transcription	K562	blood
40	chr19:56215200-56217000	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:56215400-56217000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:56215600-56217000	Strong transcription	Fetal Intestine Small	intestine
43	chr19:56215600-56217000	Weak transcription	Right Ventricle	heart
44	chr19:56215600-56217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:56215600-56218400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:56215600-56218600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:56215600-56220600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr19:56215800-56216800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:56215800-56216800	Strong transcription	Fetal Intestine Large	intestine
50	chr19:56215800-56216800	Strong transcription	Rectal Mucosa Donor 29	rectum

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