Variant report

Variant	rs55646096
Chromosome Location	chr11:64918514-64918515
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
2	chr11:64898936..64904142-chr11:64915810..64928732,16	K562	blood:
3	chr11:64889739..64892306-chr11:64916863..64918935,2	K562	blood:
4	chr11:64916690..64920840-chr11:64937382..64942125,6	K562	blood:
5	chr11:64916288..64919866-chr11:64946254..64952518,7	MCF-7	breast:
6	chr11:64911788..64913983-chr11:64917112..64920304,4	MCF-7	breast:
7	chr11:64899295..64903630-chr11:64915332..64921315,16	MCF-7	breast:
8	chr11:64913947..64916896-chr11:64917113..64919116,2	MCF-7	breast:
9	chr11:64912189..64921319-chr11:64935429..64940801,16	K562	blood:
10	chr11:64899644..64904758-chr11:64914742..64920010,11	K562	blood:
11	chr11:64917054..64918980-chr11:64934269..64937265,2	K562	blood:
12	chr11:64917276..64919080-chr11:64947521..64949119,2	K562	blood:
13	chr11:64916744..64919692-chr11:65271929..65274057,2	K562	blood:
14	chr11:64884276..64886083-chr11:64916905..64919101,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174276	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10895986	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227131	0.99[ASN][1000 genomes]
rs11227137	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17743381	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3825073	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591177	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7124215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7128220	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932851	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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
rs55646096	SPDYC	cis	Whole Blood	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64916000-64921000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:64916200-64921000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:64916400-64920000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:64916800-64919200	Enhancers	Fetal Muscle Leg	muscle
5	chr11:64917000-64918800	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:64917200-64918800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64917200-64918800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:64917200-64918800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:64917400-64918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:64917400-64918800	Enhancers	Fetal Intestine Large	intestine
11	chr11:64917400-64918800	Enhancers	Fetal Intestine Small	intestine
12	chr11:64917400-64918800	Enhancers	Fetal Kidney	kidney
13	chr11:64917400-64918800	Enhancers	Pancreas	Pancrea
14	chr11:64917400-64918800	Enhancers	HSMM	muscle
15	chr11:64917400-64918800	Enhancers	HSMMtube	muscle
16	chr11:64917400-64918800	Enhancers	NHDF-Ad	bronchial
17	chr11:64917400-64918800	Enhancers	NHLF	lung
18	chr11:64917400-64919000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:64917400-64919000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:64917400-64919000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:64917400-64919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:64917400-64920000	Enhancers	Liver	Liver
23	chr11:64917600-64919800	Enhancers	Brain Hippocampus Middle	brain
24	chr11:64917800-64918600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:64917800-64918600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:64917800-64918600	Enhancers	Ovary	ovary
27	chr11:64917800-64918800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:64917800-64918800	Enhancers	Left Ventricle	heart
29	chr11:64917800-64918800	Enhancers	Psoas Muscle	Psoas
30	chr11:64917800-64918800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:64917800-64919000	Enhancers	Fetal Heart	heart
32	chr11:64917800-64919200	Enhancers	NHEK	skin
33	chr11:64918000-64918600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:64918000-64918600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:64918000-64918600	Enhancers	Fetal Lung	lung
36	chr11:64918000-64918800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:64918000-64918800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:64918000-64918800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:64918000-64918800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:64918000-64918800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:64918000-64918800	Enhancers	Adipose Nuclei	Adipose
42	chr11:64918000-64918800	Flanking Active TSS	A549	lung
43	chr11:64918000-64918800	Flanking Active TSS	Hela-S3	cervix
44	chr11:64918000-64918800	Flanking Active TSS	HMEC	breast
45	chr11:64918000-64918800	Enhancers	HUVEC	blood vessel
46	chr11:64918000-64918800	Flanking Active TSS	K562	blood
47	chr11:64918000-64920000	Enhancers	Primary B cells from cord blood	blood
48	chr11:64918000-64920000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:64918000-64920600	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:64918200-64918600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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