Variant report

Variant	rs73342164
Chromosome Location	chr5:179181334-179181335
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179180262..179182416-chr5:179184220..179186388,2	K562	blood:
2	chr5:179180060..179181827-chr5:179182404..179185142,2	MCF-7	breast:
3	chr5:179180262..179181964-chr5:179184888..179186851,2	K562	blood:
4	chr5:179159546..179161404-chr5:179180991..179182932,2	MCF-7	breast:
5	chr5:179175737..179178528-chr5:179180784..179182506,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CANX-1	chr5:179181048-179181400	expReg_chr5_11823_+

No data

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56719864	1.00[AMR][1000 genomes]
rs57463529	1.00[AMR][1000 genomes]
rs58722253	1.00[AMR][1000 genomes]
rs59566858	1.00[AMR][1000 genomes]
rs59680418	1.00[AMR][1000 genomes]
rs59721505	1.00[AMR][1000 genomes]
rs59745533	1.00[AMR][1000 genomes]
rs59824837	1.00[AMR][1000 genomes]
rs60910702	1.00[AMR][1000 genomes]
rs61682673	1.00[AMR][1000 genomes]
rs6887072	1.00[AMR][1000 genomes]
rs73338111	1.00[AMR][1000 genomes]
rs73338115	1.00[AMR][1000 genomes]
rs73342167	1.00[AMR][1000 genomes]
rs73347986	1.00[AMR][1000 genomes]
rs73349908	1.00[AMR][1000 genomes]
rs73351626	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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179161000-179181600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179161000-179181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179161800-179188800	Weak transcription	NHDF-Ad	bronchial
4	chr5:179162000-179181400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:179162000-179181800	Weak transcription	NHLF	lung
6	chr5:179162000-179186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:179162000-179186000	Weak transcription	HSMM	muscle
8	chr5:179162000-179186200	Weak transcription	HMEC	breast
9	chr5:179162000-179186600	Weak transcription	Hela-S3	cervix
10	chr5:179162000-179190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179162600-179189000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:179163200-179181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:179164400-179181600	Weak transcription	HUVEC	blood vessel
14	chr5:179164600-179186600	Weak transcription	NH-A	brain
15	chr5:179165400-179184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:179165600-179181800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:179165800-179188800	Weak transcription	Brain Germinal Matrix	brain
18	chr5:179166400-179181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:179166400-179181400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:179167000-179186600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:179167200-179188800	Weak transcription	NHEK	skin
22	chr5:179167400-179181600	Weak transcription	Fetal Lung	lung
23	chr5:179168000-179185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:179171800-179188800	Weak transcription	Colonic Mucosa	Colon
25	chr5:179174400-179181400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:179174400-179181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:179174400-179182000	Weak transcription	Brain Anterior Caudate	brain
28	chr5:179174400-179186600	Weak transcription	Esophagus	oesophagus
29	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:179177000-179188800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:179177200-179181800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:179177200-179186600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:179177400-179181600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:179177400-179181600	Weak transcription	Brain Substantia Nigra	brain
35	chr5:179177400-179181800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:179177400-179182000	Weak transcription	Brain Angular Gyrus	brain
37	chr5:179177400-179186200	Weak transcription	HSMMtube	muscle
38	chr5:179177400-179187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:179177600-179181600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:179177600-179181800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:179177800-179181400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:179177800-179181600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:179177800-179186000	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:179177800-179188800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:179178000-179186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:179178000-179186800	Weak transcription	Placenta	Placenta
47	chr5:179178000-179187000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:179178000-179188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:179178000-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:179178000-179188800	Weak transcription	Osteobl	bone

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