Variant report

Variant	rs35562577
Chromosome Location	chr19:56217261-56217262
allele	G/T
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	chr19:56217178-56217404	HCT-116	colon:	n/a	n/a
2	POLR2A	chr19:56217153-56217472	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:56214997-56220979	K562	blood:	n/a	n/a
4	POLR2A	chr19:56217247-56217277	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:56217212-56220604	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:56217170-56217536	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:56215797-56217535	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56214734..56218976-chr19:56219559..56224015,5	K562	blood:

Variant related genes	Relation type
ENSG00000269574	TF binding region
ENSG00000267865	TF binding region
ENSG00000268593	TF binding region
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]
rs2287831	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2287832	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34637812	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7247619	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7255531	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][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:70 , 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	chr19:56206600-56218600	Weak transcription	HepG2	liver
5	chr19:56207000-56219200	Weak transcription	Psoas Muscle	Psoas
6	chr19:56208000-56220000	Weak transcription	Fetal Lung	lung
7	chr19:56209000-56217800	Weak transcription	Hela-S3	cervix
8	chr19:56209000-56218000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:56209400-56218200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:56210000-56217800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:56210000-56217800	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:56210000-56218000	Weak transcription	Left Ventricle	heart
13	chr19:56210000-56218400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:56210000-56219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:56210000-56220000	Weak transcription	Fetal Brain Female	brain
16	chr19:56211200-56218000	Weak transcription	NHEK	skin
17	chr19:56211200-56220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:56212400-56217400	Weak transcription	Thymus	Thymus
19	chr19:56212400-56217600	Weak transcription	Aorta	Aorta
20	chr19:56212400-56217600	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:56212400-56217800	Weak transcription	Brain Germinal Matrix	brain
22	chr19:56212400-56218000	Weak transcription	Brain Anterior Caudate	brain
23	chr19:56212400-56218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:56212400-56218200	Weak transcription	HMEC	breast
25	chr19:56212400-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:56212400-56218400	Weak transcription	Liver	Liver
27	chr19:56212400-56218800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:56212400-56219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:56212400-56224000	Weak transcription	HSMM	muscle
30	chr19:56212600-56217600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:56212600-56218400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:56212600-56218800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:56213200-56217800	Weak transcription	Primary T cells from cord blood	blood
34	chr19:56213200-56218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:56213200-56219400	Weak transcription	Adipose Nuclei	Adipose
36	chr19:56214600-56218000	Weak transcription	K562	blood
37	chr19:56215600-56217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:56215600-56218400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:56215600-56218600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:56215600-56220600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr19:56215800-56228000	Weak transcription	Pancreas	Pancrea
42	chr19:56216200-56217800	Weak transcription	NHLF	lung
43	chr19:56216200-56218000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:56216200-56218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:56216200-56219000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:56216400-56217400	Weak transcription	Gastric	stomach
47	chr19:56216400-56218000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:56216400-56218000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:56216400-56218000	Weak transcription	HSMMtube	muscle
50	chr19:56216400-56218200	Weak transcription	Primary monocytes fromperipheralblood	blood

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