Variant report

Variant	rs7924580
Chromosome Location	chr11:66080770-66080771
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66078628..66080981-chr11:66247770..66249627,2	K562	blood:
2	chr11:66080669..66083117-chr11:66127699..66129564,2	MCF-7	breast:
3	chr11:66055291..66058281-chr11:66079576..66082924,5	MCF-7	breast:
4	chr11:66077296..66081246-chr11:66109722..66112526,4	K562	blood:
5	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
6	chr11:66050790..66053564-chr11:66079260..66081695,2	MCF-7	breast:
7	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
8	chr11:66054404..66057808-chr11:66078165..66081775,4	MCF-7	breast:
9	chr11:66079011..66083261-chr11:66109999..66114385,7	MCF-7	breast:
10	chr11:66078877..66081854-chr11:66383426..66384938,2	K562	blood:
11	chr11:66078878..66081845-chr11:66137612..66139742,3	K562	blood:
12	chr11:66054488..66057665-chr11:66080176..66082833,4	K562	blood:
13	chr11:66079398..66082242-chr11:66082522..66086120,5	K562	blood:
14	chr11:66078412..66081908-chr11:66138198..66140974,6	K562	blood:
15	chr11:66080196..66080812-chr20:30194539..30195166,2	Hela-S3	cervix:
16	chr1:200638782..200639672-chr11:66080239..66081018,2	Hela-S3	cervix:
17	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
18	chr11:65656399..65658937-chr11:66080213..66082790,2	K562	blood:
19	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174669	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000118197	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10219183	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10444359	0.87[EUR][1000 genomes]
rs10791866	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791867	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896110	0.87[EUR][1000 genomes]
rs10896113	0.81[AMR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7924580	B3GNT1	cis	parietal	SCAN
rs7924580	ASRGL1	cis	parietal	SCAN
rs7924580	SCYL1	cis	lymphoblastoid	seeQTL
rs7924580	ESRRA	cis	cerebellum	SCAN
rs7924580	MACROD1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66079000-66081200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:66079000-66081200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66079200-66080800	Active TSS	Primary T cells from cord blood	blood
4	chr11:66079200-66080800	Active TSS	Brain Angular Gyrus	brain
5	chr11:66079200-66080800	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:66079200-66081000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:66079200-66081000	Active TSS	Colon Smooth Muscle	Colon
8	chr11:66079200-66081200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:66079200-66081200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:66079200-66081200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:66079200-66081200	Active TSS	Brain Hippocampus Middle	brain
12	chr11:66079200-66081400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:66079200-66081600	Active TSS	Brain Anterior Caudate	brain
14	chr11:66079200-66081600	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr11:66079400-66080800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:66079400-66080800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:66079400-66080800	Active TSS	HSMMtube	muscle
18	chr11:66079400-66081000	Active TSS	Ovary	ovary
19	chr11:66079400-66081000	Active TSS	HSMM	muscle
20	chr11:66079400-66081000	Active TSS	Osteobl	bone
21	chr11:66079400-66081200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:66079400-66081200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66079400-66081200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:66079400-66081200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:66079400-66081200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:66079400-66081200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:66079400-66081200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:66079400-66081400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:66079400-66081400	Active TSS	Fetal Stomach	stomach
30	chr11:66079400-66081400	Active TSS	Placenta Amnion	Placenta Amnion
31	chr11:66079400-66081600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:66079400-66081600	Active TSS	Fetal Lung	lung
33	chr11:66079400-66081800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:66079400-66082400	Active TSS	NHDF-Ad	bronchial
35	chr11:66079400-66083000	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:66079400-66083200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr11:66079400-66083400	Active TSS	Esophagus	oesophagus
38	chr11:66079400-66083600	Active TSS	Psoas Muscle	Psoas
39	chr11:66079400-66085000	Active TSS	Fetal Kidney	kidney
40	chr11:66079400-66085000	Active TSS	Right Atrium	heart
41	chr11:66079600-66081000	Active TSS	Small Intestine	intestine
42	chr11:66079600-66081200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:66079800-66081200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:66079800-66081200	Active TSS	HepG2	liver
45	chr11:66079800-66082000	Active TSS	NHLF	lung
46	chr11:66080200-66080800	Enhancers	Liver	Liver
47	chr11:66080200-66080800	Weak transcription	Fetal Heart	heart
48	chr11:66080200-66080800	Enhancers	HUVEC	blood vessel
49	chr11:66080200-66081800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:66080200-66082200	Enhancers	Primary hematopoietic stem cells	blood

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