Variant report

Variant	rs73456978
Chromosome Location	chr11:47871607-47871608
allele	A/G
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	MTA3	chr11:47871571-47872282	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:47871452-47871629	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47734421..47738084-chr11:47868728..47871724,4	K562	blood:
2	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
3	chr11:47870685..47873439-chr11:47876355..47879304,2	MCF-7	breast:
4	chr11:47599594..47601938-chr11:47869864..47871887,2	K562	blood:

Variant related genes	Relation type
NUP160	TF binding region
ENSG00000200376	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56962998	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs57175250	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61144745	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73453068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463785	1.00[EUR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870400-47871800	Enhancers	Spleen	Spleen
2	chr11:47870600-47873400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:47870600-47873400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:47870600-47875200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47870600-47877400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47870600-47879600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:47870600-47885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:47870800-47871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:47870800-47871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47870800-47871800	Enhancers	GM12878-XiMat	blood
11	chr11:47870800-47872200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:47870800-47872200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:47870800-47872200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:47870800-47872200	Enhancers	NHEK	skin
15	chr11:47870800-47873000	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:47870800-47873000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:47870800-47873200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:47870800-47873200	Enhancers	Fetal Thymus	thymus
19	chr11:47870800-47873400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:47870800-47873600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:47870800-47873800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:47870800-47875200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:47870800-47877600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:47870800-47877800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:47870800-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:47870800-47879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:47870800-47879800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:47871000-47871800	Enhancers	Primary B cells from cord blood	blood
30	chr11:47871000-47871800	Enhancers	Primary T cells from cord blood	blood
31	chr11:47871000-47871800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:47871000-47872000	Weak transcription	HMEC	breast
33	chr11:47871000-47872200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:47871000-47872800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:47871000-47872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:47871000-47872800	Enhancers	Dnd41	blood
37	chr11:47871000-47873200	Weak transcription	A549	lung
38	chr11:47871000-47873200	Weak transcription	Hela-S3	cervix
39	chr11:47871000-47873200	Weak transcription	HepG2	liver
40	chr11:47871000-47873400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:47871000-47873600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:47871000-47873600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr11:47871000-47875200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:47871000-47875200	Weak transcription	Fetal Kidney	kidney
45	chr11:47871000-47875200	Weak transcription	Placenta	Placenta
46	chr11:47871000-47875200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:47871000-47877600	Weak transcription	K562	blood
48	chr11:47871000-47883200	Weak transcription	NHDF-Ad	bronchial
49	chr11:47871200-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:47871400-47872200	Enhancers	Thymus	Thymus

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