Variant report

Variant	rs2411326
Chromosome Location	chr19:51847586-51847587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

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	POLR2A	chr19:51847165-51847630	K562	blood:	n/a	n/a
5	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
6	MTA3	chr19:51847414-51848327	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:51845860-51848948	A549	lung:	n/a	n/a
8	POLR2A	chr19:51845184-51849505	K562	blood:	n/a	n/a
9	POLR2A	chr19:51845657-51847766	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:51844742-51856690	HepG2	liver:	n/a	n/a
11	FOSL2	chr19:51845584-51847603	HepG2	liver:	n/a	chr19:51846290-51846297
12	POLR2A	chr19:51847158-51847648	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
2	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
3	chr19:51846273..51849020-chr19:51857780..51860916,3	K562	blood:
4	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267984	TF binding region
VSIG10L	TF binding region
ENSG00000105379	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12975011	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12976097	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12977906	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12979526	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12981254	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59890391	0.90[EUR][1000 genomes]
rs8102334	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8102664	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8107232	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8107235	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8107468	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51843000-51852200	Weak transcription	Fetal Heart	heart
2	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
3	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:51843600-51848000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:51843600-51854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:51843800-51848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr19:51843800-51848000	Weak transcription	Lung	lung
8	chr19:51843800-51848600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:51843800-51848800	Enhancers	Primary B cells from peripheral blood	blood
10	chr19:51843800-51849600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:51843800-51854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:51843800-51857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:51844000-51847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:51844000-51848000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:51844000-51848000	Weak transcription	Brain Anterior Caudate	brain
16	chr19:51844000-51848000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:51844000-51848000	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:51844000-51848000	Weak transcription	Gastric	stomach
19	chr19:51844000-51848000	Weak transcription	Ovary	ovary
20	chr19:51844000-51848000	Weak transcription	Pancreas	Pancrea
21	chr19:51844000-51848000	Weak transcription	Osteobl	bone
22	chr19:51844000-51848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:51844000-51848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:51844000-51848200	Weak transcription	Aorta	Aorta
25	chr19:51844000-51848200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:51844000-51848200	Weak transcription	Brain Substantia Nigra	brain
27	chr19:51844000-51848400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:51844000-51848400	Weak transcription	NHEK	skin
29	chr19:51844000-51849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:51844000-51849800	Weak transcription	Brain Angular Gyrus	brain
31	chr19:51844000-51849800	Weak transcription	NHLF	lung
32	chr19:51844000-51850000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:51844000-51850200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:51844000-51851800	Weak transcription	HSMM	muscle
35	chr19:51844000-51852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:51844000-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
38	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
39	chr19:51844200-51847800	Weak transcription	Spleen	Spleen
40	chr19:51844200-51848000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:51844200-51848000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:51844200-51848000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:51844200-51848000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:51844200-51848000	Weak transcription	Liver	Liver
45	chr19:51844200-51848000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:51844200-51848000	Weak transcription	Right Ventricle	heart
47	chr19:51844200-51848000	Weak transcription	HSMMtube	muscle
48	chr19:51844200-51848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:51844200-51848200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:51844200-51848400	Weak transcription	Rectal Smooth Muscle	rectum

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