Variant report

Variant	rs73235259
Chromosome Location	chr5:118657215-118657216
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118604332..118606095-chr5:118657146..118658949,2	K562	blood:
2	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
3	chr5:118653729..118656280-chr5:118656437..118659338,2	MCF-7	breast:
4	chr5:118656628..118658967-chr5:118738022..118740798,2	K562	blood:
5	chr5:118655262..118657300-chr5:118715734..118717406,2	K562	blood:
6	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
7	chr5:118656369..118659015-chr5:118750147..118752975,4	K562	blood:
8	chr5:118656086..118659257-chr5:118722811..118726060,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11950366	0.89[ASN][1000 genomes]
rs11951771	0.89[ASN][1000 genomes]
rs11954854	0.89[ASN][1000 genomes]
rs11955852	0.89[ASN][1000 genomes]
rs11956042	0.89[ASN][1000 genomes]
rs11956285	0.94[ASN][1000 genomes]
rs11958957	0.89[ASN][1000 genomes]
rs11959451	0.89[ASN][1000 genomes]
rs11959659	0.89[ASN][1000 genomes]
rs11959729	0.94[ASN][1000 genomes]
rs11959964	0.89[ASN][1000 genomes]
rs11960246	0.89[ASN][1000 genomes]
rs11960654	0.89[ASN][1000 genomes]
rs17145189	0.89[ASN][1000 genomes]
rs17145194	0.89[ASN][1000 genomes]
rs17145196	0.89[ASN][1000 genomes]
rs17145198	0.89[ASN][1000 genomes]
rs17164572	0.89[ASN][1000 genomes]
rs1876737	0.89[ASN][1000 genomes]
rs3813301	0.89[ASN][1000 genomes]
rs3813302	0.94[ASN][1000 genomes]
rs3813304	0.89[ASN][1000 genomes]
rs4392658	0.89[ASN][1000 genomes]
rs60161062	0.94[ASN][1000 genomes]
rs60507834	0.89[ASN][1000 genomes]
rs60756572	0.94[ASN][1000 genomes]
rs66535134	0.94[ASN][1000 genomes]
rs67154545	0.89[ASN][1000 genomes]
rs67311526	0.89[ASN][1000 genomes]
rs6861849	0.89[ASN][1000 genomes]
rs6862299	0.89[ASN][1000 genomes]
rs6862320	0.89[ASN][1000 genomes]
rs6862517	0.89[ASN][1000 genomes]
rs6862831	0.89[ASN][1000 genomes]
rs6868688	0.89[ASN][1000 genomes]
rs6868702	0.89[ASN][1000 genomes]
rs6869017	0.89[ASN][1000 genomes]
rs6875361	0.89[ASN][1000 genomes]
rs6883394	0.89[ASN][1000 genomes]
rs72786141	0.89[ASN][1000 genomes]
rs72786142	0.89[ASN][1000 genomes]
rs72786144	0.89[ASN][1000 genomes]
rs72786149	0.89[ASN][1000 genomes]
rs72786152	0.89[ASN][1000 genomes]
rs72786157	0.89[ASN][1000 genomes]
rs72786159	0.89[ASN][1000 genomes]
rs73235260	1.00[ASN][1000 genomes]
rs73235261	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73790807	0.89[ASN][1000 genomes]
rs7703577	0.89[ASN][1000 genomes]
rs7703998	0.89[ASN][1000 genomes]
rs7704026	0.89[ASN][1000 genomes]
rs7704291	0.89[ASN][1000 genomes]
rs7704326	1.00[ASN][1000 genomes]
rs7704334	0.89[ASN][1000 genomes]
rs7704386	0.89[ASN][1000 genomes]
rs7704398	0.89[ASN][1000 genomes]
rs7704487	0.89[ASN][1000 genomes]
rs7707221	0.89[ASN][1000 genomes]
rs7707736	0.89[ASN][1000 genomes]
rs7710939	0.89[ASN][1000 genomes]
rs7711312	0.89[ASN][1000 genomes]
rs7721976	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7722687	0.94[ASN][1000 genomes]
rs7722699	0.94[ASN][1000 genomes]
rs7723976	0.89[ASN][1000 genomes]
rs7724082	0.89[ASN][1000 genomes]
rs7724178	0.89[ASN][1000 genomes]
rs7724204	0.89[ASN][1000 genomes]
rs7725878	0.89[ASN][1000 genomes]
rs7737934	0.89[ASN][1000 genomes]

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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
5	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
10	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
13	chr5:118651400-118657600	Weak transcription	Fetal Lung	lung
14	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
15	chr5:118651800-118658400	Weak transcription	NHLF	lung
16	chr5:118651800-118660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:118652000-118658200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:118652000-118658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:118652400-118659800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118652800-118661800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:118653600-118660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:118653800-118663000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:118654200-118657400	Genic enhancers	Fetal Thymus	thymus
26	chr5:118654400-118658000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:118654400-118663400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:118654600-118658600	Weak transcription	HepG2	liver
29	chr5:118654600-118661800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:118654800-118658800	Genic enhancers	Primary B cells from cord blood	blood
31	chr5:118655000-118664600	Enhancers	Thymus	Thymus
32	chr5:118655200-118658200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:118655600-118662600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:118655600-118663200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:118655800-118657800	Enhancers	Primary T cells from cord blood	blood
36	chr5:118655800-118659400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:118655800-118660400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:118655800-118661400	Weak transcription	Left Ventricle	heart
39	chr5:118656000-118657600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:118656000-118658000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:118656200-118658000	Enhancers	GM12878-XiMat	blood
42	chr5:118656200-118660400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:118656400-118657400	Weak transcription	Esophagus	oesophagus
44	chr5:118656400-118659400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:118656400-118659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:118656400-118663000	Enhancers	Placenta	Placenta
47	chr5:118656600-118657400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:118656600-118657400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:118656600-118657400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:118656600-118657800	Enhancers	Primary T helper cells PMA-I stimulated	--

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