Variant report

Variant	rs11264306
Chromosome Location	chr1:155043325-155043326
allele	A/C
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	chr1:155042381..155045033-chr1:155159357..155160915,2	K562	blood:
2	chr1:154945676..154948002-chr1:155041859..155043834,3	K562	blood:
3	chr1:155043298..155045785-chr1:155097000..155098923,2	MCF-7	breast:
4	chr1:155041145..155043356-chr1:155099387..155102342,2	MCF-7	breast:
5	chr1:155042542..155044238-chr1:155163284..155166122,2	K562	blood:
6	chr1:154973764..154975994-chr1:155043065..155045959,3	K562	blood:
7	chr1:155041712..155043919-chr1:155142054..155144015,2	K562	blood:
8	chr1:154960556..154963010-chr1:155042913..155044740,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185499	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000173207	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000273088	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1001848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157801	0.85[JPT][hapmap]
rs10908454	1.00[JPT][hapmap]
rs10908455	1.00[JPT][hapmap]
rs10908456	1.00[JPT][hapmap]
rs10908458	0.85[JPT][hapmap]
rs11264304	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11264307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264314	1.00[JPT][hapmap]
rs11264319	1.00[JPT][hapmap]
rs11264329	1.00[JPT][hapmap]
rs12025371	0.85[JPT][hapmap]
rs12028043	0.85[JPT][hapmap]
rs12040970	1.00[JPT][hapmap]
rs12047986	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145362	1.00[JPT][hapmap]
rs12904	0.85[JPT][hapmap]
rs1462855	1.00[JPT][hapmap]
rs1564124	0.86[ASN][1000 genomes]
rs1870939	1.00[JPT][hapmap]
rs2306124	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs35902694	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3765087	1.00[JPT][hapmap]
rs3766916	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3806256	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4045192	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs4246529	0.85[JPT][hapmap]
rs4276913	0.85[JPT][hapmap]
rs4745	0.85[JPT][hapmap]
rs4845407	1.00[JPT][hapmap]
rs4845408	1.00[JPT][hapmap]
rs4845712	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4971052	1.00[JPT][hapmap]
rs4971066	0.85[JPT][hapmap]
rs4971073	0.85[JPT][hapmap]
rs4971076	0.85[JPT][hapmap]
rs4971079	0.85[JPT][hapmap]
rs6427158	1.00[JPT][hapmap]
rs6665822	1.00[JPT][hapmap]
rs6693477	1.00[JPT][hapmap]
rs7364524	0.85[JPT][hapmap]
rs7365544	1.00[JPT][hapmap]
rs7367207	1.00[JPT][hapmap]
rs7367897	1.00[JPT][hapmap]
rs7368345	1.00[JPT][hapmap]
rs7534162	1.00[JPT][hapmap]
rs7548955	1.00[JPT][hapmap]
rs9297	0.85[JPT][hapmap]

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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11264306	APOA1BP	cis	cerebellum	SCAN
rs11264306	UBE2Q1	cis	cerebellum	SCAN
rs11264306	SMCP	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155041400-155043400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:155042000-155043400	Flanking Active TSS	Brain Anterior Caudate	brain
3	chr1:155042000-155044000	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr1:155042200-155045000	Weak transcription	Dnd41	blood
5	chr1:155042400-155043600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:155042400-155044000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:155042400-155044000	Enhancers	Small Intestine	intestine
8	chr1:155042400-155044200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:155042400-155045000	Enhancers	Stomach Mucosa	stomach
10	chr1:155042600-155043400	Flanking Active TSS	Esophagus	oesophagus
11	chr1:155042600-155043600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:155042600-155043800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:155042600-155043800	Active TSS	Fetal Brain Female	brain
14	chr1:155042600-155044200	Enhancers	Fetal Heart	heart
15	chr1:155042800-155043400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:155042800-155043400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr1:155042800-155043400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:155042800-155043400	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr1:155042800-155043400	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr1:155042800-155043600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:155042800-155043600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:155042800-155044000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:155042800-155044000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:155042800-155044200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:155042800-155044200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:155042800-155044600	Enhancers	Gastric	stomach
27	chr1:155042800-155044600	Enhancers	Lung	lung
28	chr1:155043000-155043400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155043000-155043400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:155043000-155043400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr1:155043000-155043400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr1:155043000-155043400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:155043000-155043400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:155043000-155043400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:155043000-155043400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:155043000-155043400	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr1:155043000-155043400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:155043000-155043400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:155043000-155043400	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:155043000-155043400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr1:155043000-155043400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr1:155043000-155043400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr1:155043000-155043400	Flanking Active TSS	Left Ventricle	heart
44	chr1:155043000-155043400	Flanking Active TSS	Ovary	ovary
45	chr1:155043000-155043400	Flanking Active TSS	Psoas Muscle	Psoas
46	chr1:155043000-155043400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:155043000-155043400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:155043000-155043400	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr1:155043000-155043400	Flanking Active TSS	A549	lung
50	chr1:155043000-155043400	Flanking Active TSS	Hela-S3	cervix

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