Variant report

Variant	rs11815049
Chromosome Location	chr10:92682369-92682370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:92682357-92682407	HRE	kidney:	n/a
2	chr10:92682357-92682407	HUVEC	blood vessel:	n/a
3	chr10:92682357-92682407	Hela-S3	cervix:	n/a
4	chr10:92682357-92682407	SK-N-SH_RA	brain:	n/a
5	chr10:92682357-92682407	Caco-2	colon:	n/a
6	chr10:92682357-92682407	HCM	heart:	n/a
7	chr10:92682357-92682407	NH-A	brain:	n/a
8	chr10:92682357-92682407	GM06990	blood:	n/a
9	chr10:92682357-92682407	AG09309	skin:	n/a
10	chr10:92682357-92682407	HRPEpiC	eye:	n/a
11	chr10:92682357-92682407	PrEC	prostate:	n/a
12	chr10:92682357-92682407	AG09319	gingival:	n/a
13	chr10:92682357-92682407	BJ	skin:	n/a
14	chr10:92682357-92682407	HL-60	blood:	n/a
15	chr10:92682357-92682407	NT2-D1	testis:	n/a
16	chr10:92682357-92682407	GM12878	blood:	n/a
17	chr10:92682357-92682407	NB4	blood:	n/a
18	chr10:92682357-92682407	HRCEpiC	kidney:	n/a
19	chr10:92682357-92682407	AG04450	lung:	fetal
20	chr10:92682357-92682407	BE2_C	brain:	n/a
21	chr10:92682357-92682407	HCPEpiC	choroid plexus:	n/a
22	chr10:92682357-92682407	IMR90	lung:	fetal
23	chr10:92682357-92682407	ovcar-3	ovarian:	n/a
24	chr10:92682357-92682407	HCT-116	colon:	n/a
25	chr10:92682357-92682407	A549	lung:	n/a
26	chr10:92682357-92682407	K562	blood:	n/a
27	chr10:92682357-92682407	SAEC	small airway:	n/a
28	chr10:92682357-92682407	LNCaP	prostate:	n/a
29	chr10:92682357-92682407	HCF	heart:	n/a
30	chr10:92682357-92682407	CMK	blood:	n/a
31	chr10:92682357-92682407	T-47D	breast:	n/a
32	chr10:92682357-92682407	MCF10A-Er-Src	breast:	n/a
33	chr10:92682357-92682407	NHBE	bronchial:	n/a
34	chr10:92682357-92682407	ECC-1	luminal epithelium:	n/a
35	chr10:92682357-92682407	HNPCEpiC	eye:	n/a
36	chr10:92682357-92682407	HepG2	liver:	n/a
37	chr10:92682357-92682407	SKMC	muscle:	n/a
38	chr10:92682357-92682407	HEEpiC	esophagus:	n/a
39	chr10:92682357-92682407	ProgFib	skin:	n/a
40	chr10:92682357-92682407	HEK293	kidney:	embryo
41	chr10:92682357-92682407	H1-hESC	embryonic stem cell:	embryo
42	chr10:92682357-92682407	PANC-1	pancreas:	n/a
43	chr10:92682357-92682407	GM19239	blood:	n/a
44	chr10:92682357-92682407	MCF-7	breast:	n/a
45	chr10:92682357-92682407	SK-N-SH	brain:	n/a
46	chr10:92682357-92682407	AoSMC	blood vessel:	n/a
47	chr10:92682357-92682407	HMEC	breast:	n/a
48	chr10:92682357-92682407	HIPEpiC	eye:	n/a
49	chr10:92682357-92682407	NHDF-neo	bronchial:	n/a
50	chr10:92682357-92682407	U87	brain:	n/a

No data

Variant related genes	Relation type
ANKRD1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11186343	0.81[CEU][hapmap]
rs11186346	0.81[CEU][hapmap]
rs1891311	0.81[CEU][hapmap]
rs3824739	0.88[CHD][hapmap]

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	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11815049	CEP55	cis	cerebellum	SCAN
rs11815049	IFIT1	cis	parietal	SCAN
rs11815049	CH25H	cis	cerebellum	SCAN
rs11815049	PTEN	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92648400-92684400	Weak transcription	Aorta	Aorta
2	chr10:92672800-92689000	Weak transcription	Fetal Thymus	thymus
3	chr10:92678600-92682800	Weak transcription	Dnd41	blood
4	chr10:92678600-92689400	Weak transcription	Fetal Lung	lung
5	chr10:92680200-92682600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:92680200-92683200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr10:92680400-92684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:92680800-92682600	Weak transcription	Right Ventricle	heart
9	chr10:92680800-92683600	Weak transcription	Right Atrium	heart
10	chr10:92681000-92682400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr10:92681000-92682600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:92681000-92682800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:92681000-92682800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr10:92681000-92683400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr10:92681000-92683800	Weak transcription	Psoas Muscle	Psoas
16	chr10:92681000-92684400	Weak transcription	Left Ventricle	heart
17	chr10:92681000-92689000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:92681000-92689000	Weak transcription	Lung	lung
19	chr10:92681200-92682800	Enhancers	Fetal Heart	heart
20	chr10:92681200-92683000	Enhancers	HSMMtube	muscle
21	chr10:92681200-92690800	Weak transcription	Gastric	stomach
22	chr10:92681400-92683000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:92681400-92683000	Enhancers	HUVEC	blood vessel
24	chr10:92681400-92684200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:92681400-92685000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:92681400-92685000	Enhancers	HSMM	muscle
27	chr10:92681400-92687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:92681600-92683400	Enhancers	A549	lung
29	chr10:92681600-92688800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:92681600-92689600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:92681800-92684400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:92681800-92689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:92682000-92683600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:92682000-92683800	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:92682000-92689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:92682200-92682400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr10:92682200-92682800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:92682200-92684600	Weak transcription	HepG2	liver

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