Variant report

Variant	rs530315036
Chromosome Location	chr5:179184923-179184924
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:179182800..179186679-chr5:179187040..179189568,4	K562	blood:
2	chr5:179159135..179161287-chr5:179183499..179187060,3	MCF-7	breast:
3	chr5:179183781..179185717-chr5:179193398..179195095,2	K562	blood:
4	chr5:179182162..179184626-chr5:179184667..179187247,2	MCF-7	breast:
5	chr5:179180262..179181964-chr5:179184888..179186851,2	K562	blood:
6	chr5:179183542..179185375-chr5:179186834..179189139,3	K562	blood:
7	chr5:179180262..179182416-chr5:179184220..179186388,2	K562	blood:
8	chr5:179184236..179186610-chr5:179249273..179251326,2	K562	blood:
9	chr5:179158546..179161718-chr5:179184592..179191275,7	MCF-7	breast:
10	chr5:179183483..179185130-chr5:179191548..179193650,2	K562	blood:
11	chr5:179180060..179181827-chr5:179182404..179185142,2	MCF-7	breast:
12	chr5:179183405..179185211-chr5:179188003..179190913,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179161800-179188800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179162000-179186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:179162000-179186000	Weak transcription	HSMM	muscle
4	chr5:179162000-179186200	Weak transcription	HMEC	breast
5	chr5:179162000-179186600	Weak transcription	Hela-S3	cervix
6	chr5:179162000-179190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:179162600-179189000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:179164600-179186600	Weak transcription	NH-A	brain
9	chr5:179165800-179188800	Weak transcription	Brain Germinal Matrix	brain
10	chr5:179167000-179186600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:179167200-179188800	Weak transcription	NHEK	skin
12	chr5:179168000-179185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:179171800-179188800	Weak transcription	Colonic Mucosa	Colon
14	chr5:179174400-179186600	Weak transcription	Esophagus	oesophagus
15	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:179177000-179188800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:179177200-179186600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:179177400-179186200	Weak transcription	HSMMtube	muscle
19	chr5:179177400-179187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:179177800-179186000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:179177800-179188800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:179178000-179186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:179178000-179186800	Weak transcription	Placenta	Placenta
24	chr5:179178000-179187000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:179178000-179188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:179178000-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179178000-179188800	Weak transcription	Osteobl	bone
28	chr5:179178400-179186400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:179178600-179186200	Weak transcription	Dnd41	blood
30	chr5:179178600-179186600	Weak transcription	Thymus	Thymus
31	chr5:179179000-179185800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:179179000-179186000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:179179000-179186800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:179179000-179189200	Weak transcription	Fetal Brain Female	brain
35	chr5:179180800-179185200	Enhancers	Liver	Liver
36	chr5:179181000-179186600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:179181200-179185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:179181600-179185200	Weak transcription	Primary B cells from cord blood	blood
39	chr5:179181600-179187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:179181800-179185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:179182000-179185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:179182000-179186600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:179182200-179186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:179182200-179188600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:179182200-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179182400-179186000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:179182400-179186000	Weak transcription	Aorta	Aorta
48	chr5:179182400-179186000	Weak transcription	Right Atrium	heart
49	chr5:179182400-179186000	Weak transcription	A549	lung
50	chr5:179182400-179186000	Weak transcription	GM12878-XiMat	blood

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