Variant report

Variant	rs11950366
Chromosome Location	chr5:118664573-118664574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:118664562-118664883	K562	blood:	n/a	n/a
2	FOS	chr5:118664556-118664768	MCF10A-Er-Src	breast:	n/a	n/a
3	ARID3A	chr5:118664564-118664861	K562	blood:	n/a	n/a
4	MAFK	chr5:118664121-118664876	IMR90	lung:	n/a	chr5:118664669-118664684 chr5:118664670-118664681 chr5:118664750-118664764 chr5:118664669-118664685 chr5:118664670-118664690 chr5:118664668-118664682
5	JUND	chr5:118664097-118665121	K562	blood:	n/a	n/a
6	MAFK	chr5:118664464-118664831	K562	blood:	n/a	chr5:118664669-118664684 chr5:118664670-118664681 chr5:118664750-118664764 chr5:118664669-118664685 chr5:118664670-118664690 chr5:118664668-118664682
7	CEBPB	chr5:118664429-118664863	IMR90	lung:	n/a	chr5:118664544-118664555 chr5:118664544-118664555 chr5:118664544-118664557
8	KAP1	chr5:118664034-118664979	U2OS	brain:	n/a	n/a
9	FOS	chr5:118664556-118664838	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr5:118664571-118664776	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:118664516-118664723	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
2	chr5:118602762..118604388-chr5:118664246..118665991,2	MCF-7	breast:
3	chr5:118660112..118661671-chr5:118661964..118664780,2	MCF-7	breast:
4	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10052899	1.00[JPT][hapmap]
rs10052962	1.00[JPT][hapmap]
rs10060971	1.00[JPT][hapmap]
rs11951771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11956285	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876736	0.90[YRI][hapmap]
rs1876737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs3813303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813304	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	0.82[CEU][hapmap]
rs4392658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311526	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861849	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862517	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.91[EUR][1000 genomes]
rs72786141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.91[EUR][1000 genomes]
rs72786144	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.91[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	0.89[ASN][1000 genomes]
rs7704334	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.91[EUR][1000 genomes]
rs7719094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721976	0.89[ASN][1000 genomes]
rs7722687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.91[EUR][1000 genomes]
rs7725878	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:118655000-118664600	Enhancers	Thymus	Thymus
3	chr5:118657200-118665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:118657200-118665400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:118657600-118665200	Enhancers	NH-A	brain
6	chr5:118657800-118664800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:118658200-118670400	Weak transcription	Lung	lung
8	chr5:118658800-118665600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:118659200-118664600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:118659600-118664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:118660000-118664600	Weak transcription	Colonic Mucosa	Colon
13	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:118660200-118678600	Weak transcription	HepG2	liver
16	chr5:118660400-118664600	Enhancers	GM12878-XiMat	blood
17	chr5:118660400-118666000	Enhancers	Adipose Nuclei	Adipose
18	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
20	chr5:118661000-118664800	Weak transcription	NHLF	lung
21	chr5:118661000-118665000	Weak transcription	Aorta	Aorta
22	chr5:118661000-118665000	Enhancers	A549	lung
23	chr5:118661000-118666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:118661400-118665600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:118661400-118665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:118661800-118665200	Enhancers	NHDF-Ad	bronchial
27	chr5:118661800-118667000	Enhancers	Fetal Heart	heart
28	chr5:118662000-118665000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:118662200-118665000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:118662200-118665200	Enhancers	Osteobl	bone
31	chr5:118662200-118666200	Weak transcription	Left Ventricle	heart
32	chr5:118662200-118667200	Weak transcription	HMEC	breast
33	chr5:118662400-118665200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:118662400-118665400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:118662600-118666600	Enhancers	Fetal Stomach	stomach
36	chr5:118662600-118667000	Genic enhancers	Fetal Thymus	thymus
37	chr5:118662600-118669000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
39	chr5:118662800-118664600	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:118662800-118665800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:118662800-118665800	Weak transcription	Gastric	stomach
42	chr5:118662800-118668800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:118663000-118665000	Weak transcription	Pancreas	Pancrea
44	chr5:118663000-118665600	Weak transcription	Stomach Mucosa	stomach
45	chr5:118663000-118667200	Weak transcription	Spleen	Spleen
46	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:118663200-118666200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:118663200-118666400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:118663400-118665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:118663400-118665800	Enhancers	HUES64 Cell Line	embryonic stem cell

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