Variant report

Variant	rs10419062
Chromosome Location	chr19:51845927-51845928
allele	C/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	chr19:51845282-51851367	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51845064-51849145	HepG2	liver:	n/a	n/a
3	HEY1	chr19:51845791-51847742	HepG2	liver:	n/a	n/a
4	MBD4	chr19:51845881-51846906	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:51845254-51846354	A549	lung:	n/a	n/a
6	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
7	ELF1	chr19:51845761-51846072	K562	blood:	n/a	chr19:51845934-51845947
8	POLR2A	chr19:51845649-51846408	A549	lung:	n/a	n/a
9	POLR2A	chr19:51845860-51848948	A549	lung:	n/a	n/a
10	POLR2A	chr19:51845628-51846970	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:51845184-51849505	K562	blood:	n/a	n/a
12	POLR2A	chr19:51845657-51847766	HepG2	liver:	n/a	n/a
13	MAZ	chr19:51845621-51846738	HepG2	liver:	n/a	n/a
14	ZNF263	chr19:51845711-51846355	HEK293-T-REx	kidney:	n/a	chr19:51846057-51846078 chr19:51846104-51846113 chr19:51846064-51846073 chr19:51845766-51845775
15	POLR2A	chr19:51845684-51847559	HepG2	liver:	n/a	n/a
16	RCOR1	chr19:51845909-51845941	K562	blood:	n/a	n/a
17	POLR2A	chr19:51844742-51856690	HepG2	liver:	n/a	n/a
18	E2F6	chr19:51845701-51846293	H1-hESC	embryonic stem cell:	n/a	chr19:51845964-51845979
19	POLR2A	chr19:51845822-51846830	HepG2	liver:	n/a	n/a
20	FOSL2	chr19:51845584-51847603	HepG2	liver:	n/a	chr19:51846290-51846297
21	POLR2A	chr19:51845316-51846440	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
2	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
3	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:

Variant related genes	Relation type
VSIG10L	TF binding region
ENSG00000267984	TF binding region
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268520	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1035454	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10414211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424579	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084068	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11878664	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463376	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011612	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28668475	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34380065	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509528	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7259266	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105710	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51842800-51847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:51843000-51847400	Weak transcription	Dnd41	blood
3	chr19:51843000-51852200	Weak transcription	Fetal Heart	heart
4	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
5	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:51843600-51848000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:51843600-51854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:51843800-51847400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:51843800-51848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:51843800-51848000	Weak transcription	Lung	lung
11	chr19:51843800-51848600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:51843800-51848800	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:51843800-51849600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr19:51843800-51854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:51843800-51857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:51844000-51847200	Weak transcription	Primary B cells from cord blood	blood
17	chr19:51844000-51847200	Weak transcription	GM12878-XiMat	blood
18	chr19:51844000-51847400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:51844000-51847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:51844000-51847400	Weak transcription	Left Ventricle	heart
21	chr19:51844000-51847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:51844000-51848000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:51844000-51848000	Weak transcription	Brain Anterior Caudate	brain
24	chr19:51844000-51848000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:51844000-51848000	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:51844000-51848000	Weak transcription	Gastric	stomach
27	chr19:51844000-51848000	Weak transcription	Ovary	ovary
28	chr19:51844000-51848000	Weak transcription	Pancreas	Pancrea
29	chr19:51844000-51848000	Weak transcription	Osteobl	bone
30	chr19:51844000-51848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:51844000-51848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:51844000-51848200	Weak transcription	Aorta	Aorta
33	chr19:51844000-51848200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:51844000-51848200	Weak transcription	Brain Substantia Nigra	brain
35	chr19:51844000-51848400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:51844000-51848400	Weak transcription	NHEK	skin
37	chr19:51844000-51849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:51844000-51849800	Weak transcription	Brain Angular Gyrus	brain
39	chr19:51844000-51849800	Weak transcription	NHLF	lung
40	chr19:51844000-51850000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:51844000-51850200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:51844000-51851800	Weak transcription	HSMM	muscle
43	chr19:51844000-51852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:51844000-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
46	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
47	chr19:51844200-51846600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:51844200-51846600	Enhancers	K562	blood
49	chr19:51844200-51847400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:51844200-51847800	Weak transcription	Spleen	Spleen

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