Variant report

Variant	rs67311526
Chromosome Location	chr5:118661649-118661650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118626131..118628093-chr5:118660275..118663630,3	K562	blood:
2	chr5:118636247..118638488-chr5:118660209..118662344,2	K562	blood:
3	chr5:118626131..118628093-chr5:118660275..118662389,2	K562	blood:
4	chr5:118657545..118660417-chr5:118661567..118663865,2	MCF-7	breast:
5	chr5:118623079..118625774-chr5:118657977..118661910,3	MCF-7	breast:
6	chr5:118660112..118661671-chr5:118661964..118664780,2	MCF-7	breast:
7	chr5:118603982..118606097-chr5:118661262..118663563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11950366	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11956285	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959451	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876737	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	0.95[ASN][1000 genomes]
rs3813304	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	0.81[EUR][1000 genomes]
rs4392658	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67708265	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6861849	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862320	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862517	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.93[EUR][1000 genomes]
rs72786141	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.93[EUR][1000 genomes]
rs72786144	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.93[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704026	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	0.89[ASN][1000 genomes]
rs7704334	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707221	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7711312	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.93[EUR][1000 genomes]
rs7721976	0.89[ASN][1000 genomes]
rs7722687	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.93[EUR][1000 genomes]
rs7725878	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	0.96[EUR][1000 genomes];1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
6	chr5:118652800-118661800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr5:118653800-118663000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:118654400-118663400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:118654600-118661800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:118655000-118664600	Enhancers	Thymus	Thymus
11	chr5:118655600-118662600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:118655600-118663200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:118656400-118663000	Enhancers	Placenta	Placenta
14	chr5:118656600-118664400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:118657200-118663200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:118657200-118665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:118657200-118665400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:118657400-118663200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:118657400-118664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:118657600-118664200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:118657600-118665200	Enhancers	NH-A	brain
22	chr5:118657800-118664800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:118658200-118670400	Weak transcription	Lung	lung
24	chr5:118658400-118663800	Weak transcription	Fetal Lung	lung
25	chr5:118658800-118665600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:118659200-118664600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:118659600-118661800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:118659600-118661800	Weak transcription	Fetal Heart	heart
29	chr5:118659600-118662400	Weak transcription	Small Intestine	intestine
30	chr5:118659600-118663800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:118659600-118664000	Weak transcription	HSMM	muscle
32	chr5:118659600-118664200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:118659600-118664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:118659600-118664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:118660000-118661800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:118660000-118664600	Weak transcription	Colonic Mucosa	Colon
38	chr5:118660200-118661800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:118660200-118663800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:118660200-118664000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:118660200-118664200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:118660200-118678600	Weak transcription	HepG2	liver
45	chr5:118660400-118661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:118660400-118662200	Enhancers	K562	blood
47	chr5:118660400-118662400	Enhancers	Primary T cells from cord blood	blood
48	chr5:118660400-118662600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:118660400-118662600	Enhancers	Fetal Thymus	thymus
50	chr5:118660400-118662600	Weak transcription	Stomach Mucosa	stomach

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