Variant report

Variant	rs7110801
Chromosome Location	chr11:72441431-72441432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:72441305-72441672	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr11:72441372-72441805	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr11:72441396-72441583	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72438835..72441460-chr11:72461995..72464532,3	MCF-7	breast:
2	chr11:72438249..72441880-chr11:72522692..72525489,3	MCF-7	breast:
3	chr11:72435483..72438273-chr11:72440197..72442336,2	K562	blood:
4	chr11:72440158..72444613-chr11:72446790..72449763,6	K562	blood:
5	chr11:72436773..72438595-chr11:72440758..72442548,3	K562	blood:

No data

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10793039	0.82[CHD][hapmap]
rs10793040	0.87[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10898866	0.83[GIH][hapmap];0.86[MEX][hapmap]
rs11235575	0.80[AMR][1000 genomes]
rs12576058	0.81[MEX][hapmap]
rs1681503	0.89[ASN][1000 genomes]
rs2365439	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624030	0.96[ASN][1000 genomes]
rs660043	0.93[CHB][hapmap]
rs7125221	0.81[MEX][hapmap];0.84[TSI][hapmap]
rs745995	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs900611	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7110801	PDE2A	cis	parietal	SCAN
rs7110801	STARD10	cis	cerebellum	SCAN
rs7110801	STARD10	cis	Whole Blood	GTEx
rs7110801	ARAP1	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72433600-72446000	Genic enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:72433600-72447800	Weak transcription	Aorta	Aorta
3	chr11:72433600-72452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:72434000-72446600	Weak transcription	NH-A	brain
5	chr11:72434000-72446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:72434000-72452200	Weak transcription	Small Intestine	intestine
7	chr11:72434200-72446200	Weak transcription	Left Ventricle	heart
8	chr11:72434200-72446800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:72434200-72447600	Weak transcription	Right Ventricle	heart
10	chr11:72434200-72448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:72434600-72447600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:72435000-72446800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:72435600-72441800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:72435600-72446800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:72435600-72449600	Weak transcription	Pancreas	Pancrea
16	chr11:72436200-72446600	Weak transcription	NHLF	lung
17	chr11:72436400-72444200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:72436600-72447400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:72436800-72442000	Weak transcription	K562	blood
20	chr11:72436800-72442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:72436800-72442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:72436800-72442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:72436800-72443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:72436800-72443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:72436800-72444800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:72436800-72445400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:72436800-72445600	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:72436800-72446600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:72436800-72446600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:72436800-72446600	Weak transcription	Adipose Nuclei	Adipose
31	chr11:72436800-72446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:72436800-72447000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:72437000-72441800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:72437000-72445200	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:72437000-72445400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:72437000-72446600	Weak transcription	Placenta	Placenta
37	chr11:72437000-72447000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:72437400-72446800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:72437400-72447400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:72437600-72442200	Weak transcription	Fetal Thymus	thymus
41	chr11:72437600-72446400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:72437600-72446400	Weak transcription	Hela-S3	cervix
43	chr11:72437800-72442200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:72437800-72446800	Weak transcription	Gastric	stomach
45	chr11:72437800-72449000	Weak transcription	Colonic Mucosa	Colon
46	chr11:72438000-72447800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:72438200-72446400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:72438400-72442000	Weak transcription	NHEK	skin
49	chr11:72438400-72442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:72438400-72443000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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