Variant report

Variant	rs3822518
Chromosome Location	chr5:118727592-118727593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118722075..118725001-chr5:118726999..118729970,2	K562	blood:
2	chr5:118726523..118729278-chr5:118732222..118734647,2	K562	blood:
3	chr5:118720922..118723658-chr5:118726552..118728521,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1045241	0.83[ASN][1000 genomes]
rs11064	0.98[ASN][1000 genomes]
rs11241503	0.81[ASN][1000 genomes]
rs11241504	0.90[ASN][1000 genomes]
rs3203922	0.83[ASN][1000 genomes]
rs56017758	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56341600	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6894901	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895052	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7720409	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
3	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:118709400-118727800	Weak transcription	Dnd41	blood
5	chr5:118711400-118728400	Weak transcription	A549	lung
6	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
8	chr5:118715400-118728800	Weak transcription	Placenta	Placenta
9	chr5:118717200-118731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:118720600-118728600	Weak transcription	Thymus	Thymus
12	chr5:118721800-118728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:118722600-118728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:118722600-118730600	Weak transcription	Lung	lung
15	chr5:118722600-118733600	Weak transcription	Small Intestine	intestine
16	chr5:118722800-118731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:118723000-118734800	Weak transcription	Gastric	stomach
18	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
19	chr5:118723600-118727800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:118723800-118732400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:118724000-118728400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:118724200-118728600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:118724200-118734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:118724400-118728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118724400-118728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:118724400-118728600	Weak transcription	NHEK	skin
27	chr5:118724400-118729200	Weak transcription	HMEC	breast
28	chr5:118724600-118727800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:118724600-118733000	Weak transcription	Liver	Liver
30	chr5:118725000-118733400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:118725000-118733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:118725000-118735600	Weak transcription	Fetal Intestine Large	intestine
33	chr5:118725200-118728600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:118725200-118728600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:118725200-118729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:118725400-118728000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:118725400-118728400	Weak transcription	Fetal Thymus	thymus
38	chr5:118725400-118728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:118725400-118728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:118725400-118729000	Weak transcription	HSMM	muscle
41	chr5:118725400-118731000	Weak transcription	Spleen	Spleen
42	chr5:118725400-118734800	Weak transcription	Esophagus	oesophagus
43	chr5:118725400-118734800	Weak transcription	Left Ventricle	heart
44	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:118725400-118736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:118725600-118728400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:118725600-118728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:118725600-118728800	Weak transcription	NH-A	brain

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