Variant report

Variant	rs28368968
Chromosome Location	chr19:41300851-41300852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171570	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000261857	Chromatin interaction

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

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

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10405792	1.00[AMR][1000 genomes]
rs10408452	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs10415973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10420158	1.00[AMR][1000 genomes]
rs10422737	1.00[AMR][1000 genomes]
rs12104289	1.00[AMR][1000 genomes]
rs13347002	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609092	1.00[AMR][1000 genomes]
rs28636772	1.00[AMR][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:111 , 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	chr19:41285400-41302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:41285400-41303400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:41285400-41303400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:41285400-41303400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:41285400-41303400	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:41285400-41303400	Weak transcription	HMEC	breast
14	chr19:41285400-41303400	Weak transcription	Osteobl	bone
15	chr19:41285400-41303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:41285400-41303600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:41285400-41303600	Weak transcription	NHEK	skin
18	chr19:41285400-41303800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:41285400-41303800	Weak transcription	NH-A	brain
20	chr19:41285400-41304000	Weak transcription	HSMMtube	muscle
21	chr19:41286000-41303600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:41286200-41303400	Weak transcription	K562	blood
23	chr19:41286200-41303800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:41286200-41304000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:41286400-41303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:41286400-41303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:41286400-41303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:41287600-41303600	Weak transcription	NHLF	lung
29	chr19:41293000-41302000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:41293000-41302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:41293000-41303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:41293000-41303600	Weak transcription	Esophagus	oesophagus
33	chr19:41293000-41303800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:41293000-41304000	Weak transcription	Brain Angular Gyrus	brain
35	chr19:41293000-41304000	Weak transcription	Brain Substantia Nigra	brain
36	chr19:41293200-41303800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:41296200-41303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:41296200-41303400	Weak transcription	Dnd41	blood
39	chr19:41296200-41303600	Weak transcription	Ovary	ovary
40	chr19:41296200-41303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:41296200-41304000	Weak transcription	Right Ventricle	heart
42	chr19:41296600-41303400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:41297600-41302000	Weak transcription	Fetal Intestine Small	intestine
44	chr19:41297600-41303200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:41297600-41303400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:41297600-41303600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:41297600-41303600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:41297600-41303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:41297600-41304000	Weak transcription	Gastric	stomach
50	chr19:41297800-41303600	Weak transcription	Fetal Muscle Trunk	muscle

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