Variant report

Variant	rs45600135
Chromosome Location	chr19:41302501-41302502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
2	chr19:41296534..41298700-chr19:41301407..41304714,3	K562	blood:
3	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
4	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:
5	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
6	chr19:41220057..41225402-chr19:41302090..41307926,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf54-1	chr19:41302132-41302848	ENSG00000249523

No data

Variant related genes	Relation type
ENSG00000171570	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000261857	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34406232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4803365	1.00[EUR][1000 genomes]
rs4803367	1.00[EUR][1000 genomes]
rs4803370	0.85[EUR][1000 genomes]
rs7251781	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41285000-41303800	Weak transcription	Small Intestine	intestine
2	chr19:41285000-41304000	Weak transcription	Psoas Muscle	Psoas
3	chr19:41285200-41303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41285200-41303400	Weak transcription	Pancreas	Pancrea
5	chr19:41285200-41303600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:41285200-41303800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:41285200-41304000	Weak transcription	HSMM	muscle
8	chr19:41285400-41303400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:41285400-41303400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:41285400-41303400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:41285400-41303400	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:41285400-41303400	Weak transcription	HMEC	breast
13	chr19:41285400-41303400	Weak transcription	Osteobl	bone
14	chr19:41285400-41303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:41285400-41303600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:41285400-41303600	Weak transcription	NHEK	skin
17	chr19:41285400-41303800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:41285400-41303800	Weak transcription	NH-A	brain
19	chr19:41285400-41304000	Weak transcription	HSMMtube	muscle
20	chr19:41286000-41303600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:41286200-41303400	Weak transcription	K562	blood
22	chr19:41286200-41303800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:41286200-41304000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:41286400-41303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:41286400-41303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:41286400-41303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:41287600-41303600	Weak transcription	NHLF	lung
28	chr19:41293000-41303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:41293000-41303600	Weak transcription	Esophagus	oesophagus
30	chr19:41293000-41303800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:41293000-41304000	Weak transcription	Brain Angular Gyrus	brain
32	chr19:41293000-41304000	Weak transcription	Brain Substantia Nigra	brain
33	chr19:41293200-41303800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:41296200-41303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:41296200-41303400	Weak transcription	Dnd41	blood
36	chr19:41296200-41303600	Weak transcription	Ovary	ovary
37	chr19:41296200-41303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:41296200-41304000	Weak transcription	Right Ventricle	heart
39	chr19:41296600-41303400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:41297600-41303200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:41297600-41303400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:41297600-41303600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:41297600-41303600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:41297600-41303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:41297600-41304000	Weak transcription	Gastric	stomach
46	chr19:41297800-41303600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:41298000-41303400	Weak transcription	Lung	lung
48	chr19:41298000-41304000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:41298200-41302600	Enhancers	Placenta	Placenta
50	chr19:41298200-41303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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