Variant report

Variant	rs13382720
Chromosome Location	chr2:55132800-55132801
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55127373..55130135-chr2:55130954..55133199,2	K562	blood:
2	chr2:55130649..55133566-chr2:55214516..55217293,2	K562	blood:
3	chr2:55131871..55133906-chr2:55272256..55273757,2	MCF-7	breast:
4	chr2:55131952..55133594-chr2:55135173..55137176,2	MCF-7	breast:
5	chr2:55129798..55133385-chr2:55275223..55278848,4	MCF-7	breast:
6	chr2:55130704..55133111-chr2:55237252..55238774,2	MCF-7	breast:
7	chr2:55130491..55133378-chr2:55191719..55193881,2	MCF-7	breast:
8	chr2:55130679..55134331-chr2:55179003..55183555,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10164992	1.00[ASN][1000 genomes]
rs10167789	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10195230	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10198957	1.00[ASN][1000 genomes]
rs13387512	1.00[ASN][1000 genomes]
rs13422312	1.00[ASN][1000 genomes]
rs17046424	1.00[ASN][1000 genomes]
rs17046484	0.89[CEU][hapmap]
rs62136943	1.00[ASN][1000 genomes]
rs6545452	1.00[ASN][1000 genomes]
rs6545455	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7355428	0.89[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13382720	CCDC85A	cis	parietal	SCAN
rs13382720	CCDC85A	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55127600-55133400	Weak transcription	Fetal Brain Female	brain
3	chr2:55127800-55133400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:55127800-55133600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55128000-55133400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:55128000-55133400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:55128000-55133800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:55129200-55133600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:55130200-55133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:55130400-55133800	Enhancers	Fetal Intestine Large	intestine
11	chr2:55130600-55133200	Enhancers	NHLF	lung
12	chr2:55130800-55133600	Enhancers	Fetal Intestine Small	intestine
13	chr2:55131000-55133000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:55131000-55134200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:55131600-55133000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:55131600-55134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:55131800-55133800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:55131800-55134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:55132000-55133200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:55132000-55133400	Weak transcription	Fetal Thymus	thymus
21	chr2:55132000-55133400	Weak transcription	Psoas Muscle	Psoas
22	chr2:55132000-55133600	Enhancers	HSMM	muscle
23	chr2:55132000-55134200	Enhancers	NHDF-Ad	bronchial
24	chr2:55132000-55136600	Enhancers	Liver	Liver
25	chr2:55132000-55140600	Weak transcription	Esophagus	oesophagus
26	chr2:55132200-55133400	Bivalent Enhancer	Fetal Heart	heart
27	chr2:55132200-55133400	Weak transcription	HSMMtube	muscle
28	chr2:55132200-55135600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:55132200-55135800	Weak transcription	NH-A	brain
30	chr2:55132400-55133600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:55132400-55133600	Enhancers	NHEK	skin
32	chr2:55132400-55133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:55132400-55134000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:55132400-55134200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:55132400-55134200	Enhancers	HMEC	breast
36	chr2:55132400-55134600	Enhancers	Fetal Brain Male	brain
37	chr2:55132400-55134600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:55132400-55135600	Weak transcription	Osteobl	bone
39	chr2:55132400-55135800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:55132400-55135800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:55132600-55135600	Weak transcription	HepG2	liver

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