Variant report

Variant	rs76561619
Chromosome Location	chr5:179085803-179085804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179085589..179087601-chr5:179105143..179107865,2	MCF-7	breast:
2	chr5:179085719..179088021-chr5:179125069..179127270,2	K562	blood:
3	chr5:179085577..179087271-chr5:179159837..179161552,2	K562	blood:
4	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
5	chr5:179085578..179087269-chr5:179124562..179126084,2	MCF-7	breast:
6	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1017006	chr5:179064433-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179084600-179086000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain
3	chr5:179084800-179086000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:179084800-179086000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:179084800-179086000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:179084800-179086000	Active TSS	Pancreas	Pancrea
7	chr5:179084800-179086000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:179084800-179086000	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:179084800-179086000	Active TSS	Right Atrium	heart
10	chr5:179084800-179086000	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:179084800-179086000	Active TSS	Osteobl	bone
12	chr5:179084800-179086200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:179084800-179086200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:179084800-179086400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:179085400-179086000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:179085400-179086000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:179085400-179086000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:179085400-179086000	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:179085400-179086000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr5:179085400-179086000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:179085400-179086000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:179085400-179086000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:179085400-179086000	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:179085400-179086000	Active TSS	Brain Germinal Matrix	brain
25	chr5:179085400-179086000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr5:179085400-179086000	Active TSS	Fetal Intestine Small	intestine
27	chr5:179085400-179086000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr5:179085400-179086000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr5:179085400-179086000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr5:179085400-179086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:179085400-179086000	Flanking Active TSS	K562	blood
32	chr5:179085400-179086000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:179085400-179086000	Active TSS	NHEK	skin
34	chr5:179085400-179086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:179085400-179086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:179085400-179086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:179085400-179086200	Active TSS	Brain Angular Gyrus	brain
38	chr5:179085400-179086200	Flanking Active TSS	Dnd41	blood
39	chr5:179085600-179086000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:179085600-179086000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:179085600-179086000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:179085600-179086000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:179085600-179086000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:179085600-179086000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:179085600-179086000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr5:179085600-179086000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:179085600-179086000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr5:179085600-179086000	Flanking Active TSS	Fetal Stomach	stomach
49	chr5:179085600-179086000	Flanking Active TSS	HepG2	liver
50	chr5:179085600-179086000	Flanking Active TSS	HMEC	breast

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