Variant report

Variant	rs73934345
Chromosome Location	chr19:51864670-51864671
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	chr19:51864435-51864730	K562	blood:	n/a	n/a
2	POLR2A	chr19:51864458-51864738	K562	blood:	n/a	n/a
3	POLR2A	chr19:51864619-51864751	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:51864665-51864792	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
2	chr19:51841630..51844742-chr19:51864633..51867796,3	K562	blood:

Variant related genes	Relation type
ETFB	TF binding region
ENSG00000262874	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000268889	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11881164	1.00[EUR][1000 genomes]
rs11881186	1.00[EUR][1000 genomes]
rs34601865	1.00[EUR][1000 genomes]
rs35287633	1.00[AMR][1000 genomes]
rs55644823	1.00[AMR][1000 genomes]
rs7259174	1.00[AMR][1000 genomes]
rs73936005	1.00[AMR][1000 genomes]
rs73936012	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	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51844000-51865800	Weak transcription	Small Intestine	intestine
2	chr19:51844000-51866400	Weak transcription	Right Atrium	heart
3	chr19:51847200-51868600	Weak transcription	Fetal Lung	lung
4	chr19:51852400-51865200	Weak transcription	Fetal Heart	heart
5	chr19:51853600-51868600	Weak transcription	Aorta	Aorta
6	chr19:51853800-51868600	Weak transcription	HSMM	muscle
7	chr19:51854600-51867800	Weak transcription	Psoas Muscle	Psoas
8	chr19:51855200-51866000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:51855400-51867600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:51855600-51865400	Weak transcription	GM12878-XiMat	blood
11	chr19:51856400-51865200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:51856400-51866000	Weak transcription	Lung	lung
13	chr19:51856600-51865600	Weak transcription	Colonic Mucosa	Colon
14	chr19:51856600-51866000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:51856600-51866000	Weak transcription	Gastric	stomach
16	chr19:51856600-51867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:51856600-51868600	Weak transcription	Ovary	ovary
18	chr19:51856800-51866000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:51857800-51865600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:51857800-51865600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:51857800-51865800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:51857800-51865800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:51857800-51865800	Weak transcription	NHLF	lung
24	chr19:51857800-51866000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr19:51857800-51866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:51857800-51866000	Weak transcription	Spleen	Spleen
27	chr19:51857800-51867600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:51857800-51868400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:51858000-51865200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:51858000-51865800	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:51858200-51865200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr19:51858200-51865600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:51858200-51865800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:51858200-51866000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:51858200-51866000	Weak transcription	Left Ventricle	heart
36	chr19:51858200-51866000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:51858200-51866000	Weak transcription	Right Ventricle	heart
38	chr19:51858200-51867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:51858200-51867200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:51858200-51867800	Weak transcription	Fetal Muscle Leg	muscle
41	chr19:51858200-51869000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr19:51858400-51865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:51858400-51865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:51858400-51866000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:51858400-51866000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:51858400-51866000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr19:51858400-51866000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:51858400-51866200	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:51858400-51867000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:51858400-51867000	Weak transcription	Brain Angular Gyrus	brain

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