Variant report

Variant	rs310473
Chromosome Location	chr19:56157753-56157754
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	chr19:56157613-56157787	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:56157664-56157800	K562	blood:	n/a	n/a
3	POLR2A	chr19:56157524-56157900	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr19:56157569-56157868	K562	blood:	n/a	n/a
5	POLR2A	chr19:56157186-56158043	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55951636..55954321-chr19:56156627..56158922,2	K562	blood:
2	chr19:56009548..56011296-chr19:56155701..56158462,2	K562	blood:
3	chr19:55915993..55918955-chr19:56157443..56159330,2	K562	blood:

Variant related genes	Relation type
CCDC106	TF binding region
ENSG00000187902	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2280255	0.82[ASN][1000 genomes]
rs2287791	0.86[ASN][1000 genomes]
rs28375493	0.81[ASN][1000 genomes]
rs310472	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3745446	0.84[ASN][1000 genomes]
rs3826757	0.82[ASN][1000 genomes]
rs4801526	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs523509	0.85[ASN][1000 genomes]
rs575274	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	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
7	nsv912503	chr19:56149077-56162776	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
8	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56155800-56158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56156000-56157800	Genic enhancers	Adipose Nuclei	Adipose
3	chr19:56156000-56157800	Genic enhancers	Placenta	Placenta
4	chr19:56156000-56158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:56156000-56158600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:56156000-56158800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:56156200-56158400	Weak transcription	Fetal Brain Male	brain
8	chr19:56156200-56158400	Weak transcription	Fetal Lung	lung
9	chr19:56156200-56158400	Strong transcription	Fetal Stomach	stomach
10	chr19:56156200-56158400	Weak transcription	Left Ventricle	heart
11	chr19:56156200-56158400	Weak transcription	Small Intestine	intestine
12	chr19:56156200-56158600	Weak transcription	Psoas Muscle	Psoas
13	chr19:56156200-56158600	Weak transcription	Stomach Mucosa	stomach
14	chr19:56156200-56158800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:56156200-56158800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:56156200-56158800	Weak transcription	Right Atrium	heart
17	chr19:56156400-56158800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:56156600-56157800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:56156600-56158600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:56156600-56158800	Weak transcription	Colonic Mucosa	Colon
21	chr19:56156800-56157800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:56156800-56158400	Weak transcription	Fetal Heart	heart
23	chr19:56156800-56158400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:56156800-56158600	Weak transcription	Brain Angular Gyrus	brain
25	chr19:56157000-56157800	Strong transcription	Spleen	Spleen
26	chr19:56157000-56158000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:56157000-56158200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:56157000-56158400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:56157000-56158400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:56157000-56158400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:56157000-56158400	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:56157000-56158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:56157000-56158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:56157000-56158600	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:56157000-56158600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:56157000-56158600	Weak transcription	Brain Substantia Nigra	brain
37	chr19:56157000-56158600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:56157000-56158600	Weak transcription	Right Ventricle	heart
39	chr19:56157000-56159000	Weak transcription	Gastric	stomach
40	chr19:56157000-56159000	Weak transcription	Ovary	ovary
41	chr19:56157000-56159200	Weak transcription	Aorta	Aorta
42	chr19:56157200-56157800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:56157200-56158000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:56157200-56158200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:56157200-56158200	Weak transcription	Thymus	Thymus
46	chr19:56157200-56158200	Weak transcription	Dnd41	blood
47	chr19:56157200-56158200	Weak transcription	GM12878-XiMat	blood
48	chr19:56157200-56158200	Weak transcription	Hela-S3	cervix
49	chr19:56157200-56158200	Weak transcription	K562	blood
50	chr19:56157200-56158400	Weak transcription	H9 Cell Line	embryonic stem cell

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