Variant report

Variant	rs6591177
Chromosome Location	chr11:64935751-64935752
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:64935717-64937159	PBDE	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64899089..64905727-chr11:64934867..64942996,32	K562	blood:
2	chr11:64935468..64937068-chr11:64949314..64950978,2	MCF-7	breast:
3	chr11:64917054..64918980-chr11:64934269..64937265,2	K562	blood:
4	chr11:64934217..64936652-chr11:65025702..65028546,2	K562	blood:
5	chr11:64933286..64936582-chr11:64938443..64942127,3	MCF-7	breast:
6	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
7	chr11:64934429..64937624-chr11:65263809..65266088,3	K562	blood:
8	chr11:64934664..64937564-chr11:64938431..64940801,2	MCF-7	breast:
9	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
10	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
11	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
12	chr11:64894864..64904857-chr11:64934599..64944069,37	K562	blood:
13	chr11:64912189..64921319-chr11:64935429..64940801,16	K562	blood:
14	chr11:64849716..64853170-chr11:64935136..64939292,4	K562	blood:
15	chr11:64849716..64856389-chr11:64935136..64940419,9	K562	blood:

No data

Variant related genes	Relation type
SPDYC	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000146670	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10895986	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11227137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17743381	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3825073	0.80[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55646096	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7124215	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7128220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72932851	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6591177	SPDYC	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64924200-64936400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:64927400-64948400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:64933400-64937200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:64933600-64935800	Weak transcription	Placenta	Placenta
5	chr11:64933600-64936400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:64933600-64936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:64933600-64948000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:64933800-64936400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:64933800-64936400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:64933800-64936600	Weak transcription	NH-A	brain
11	chr11:64933800-64936600	Weak transcription	NHDF-Ad	bronchial
12	chr11:64933800-64936600	Weak transcription	Osteobl	bone
13	chr11:64933800-64947600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:64933800-64947600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:64933800-64947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:64933800-64948200	Weak transcription	Ovary	ovary
17	chr11:64934200-64936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:64934400-64935800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:64934400-64936400	Weak transcription	Stomach Mucosa	stomach
20	chr11:64934400-64936600	Weak transcription	Fetal Lung	lung
21	chr11:64934400-64947800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:64934600-64936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:64934600-64947800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:64934800-64935800	Enhancers	Liver	Liver
25	chr11:64934800-64936600	Enhancers	HepG2	liver
26	chr11:64935200-64936400	Enhancers	K562	blood
27	chr11:64935200-64937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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