Variant report

Variant	rs6595187
Chromosome Location	chr5:118723609-118723610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118656086..118659257-chr5:118722811..118726060,3	K562	blood:
2	chr5:118722075..118725001-chr5:118726999..118729970,2	K562	blood:
3	chr5:118722584..118724806-chr5:118734610..118737360,3	K562	blood:
4	chr5:118720922..118723658-chr5:118726552..118728521,2	MCF-7	breast:
5	chr5:118721777..118723787-chr5:118732955..118735466,2	K562	blood:

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

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

rs_ID	r²[population]
rs1045241	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1045242	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12234017	0.84[AMR][1000 genomes]
rs12332329	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3203922	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56017758	0.86[ASN][1000 genomes]
rs7703744	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7720409	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9764678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
4	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:118709400-118727800	Weak transcription	Dnd41	blood
6	chr5:118711400-118728400	Weak transcription	A549	lung
7	chr5:118711800-118725800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:118712200-118724600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:118712400-118726400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr5:118712800-118726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118714000-118725200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:118714400-118725200	Weak transcription	Aorta	Aorta
14	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
15	chr5:118715000-118725000	Weak transcription	Fetal Thymus	thymus
16	chr5:118715200-118724800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:118715400-118728800	Weak transcription	Placenta	Placenta
18	chr5:118715800-118724800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:118716200-118724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:118717200-118731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:118718600-118725200	Weak transcription	Stomach Mucosa	stomach
22	chr5:118718600-118726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:118720200-118724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:118720400-118724400	Enhancers	Fetal Lung	lung
26	chr5:118720600-118724200	Genic enhancers	Primary B cells from cord blood	blood
27	chr5:118720600-118728600	Weak transcription	Thymus	Thymus
28	chr5:118720800-118724800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118721200-118724800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:118721200-118724800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:118721200-118725000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:118721200-118725000	Weak transcription	Right Atrium	heart
33	chr5:118721600-118723800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:118721600-118726800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:118721800-118726000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:118721800-118728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:118722000-118724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:118722000-118725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:118722000-118725800	Enhancers	Adipose Nuclei	Adipose
40	chr5:118722200-118723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:118722400-118723800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:118722400-118723800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:118722400-118725000	Enhancers	Rectal Smooth Muscle	rectum
44	chr5:118722400-118725000	Weak transcription	NH-A	brain
45	chr5:118722400-118725200	Enhancers	Osteobl	bone
46	chr5:118722400-118727200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr5:118722600-118723800	Weak transcription	Primary T cells from cord blood	blood
48	chr5:118722600-118724400	Weak transcription	Fetal Stomach	stomach
49	chr5:118722600-118724600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:118722600-118724600	Weak transcription	NHLF	lung

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