Variant report

Variant	rs11264303
Chromosome Location	chr1:155030557-155030558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155030500-155030650	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr1:155030520-155030670	HPF	lung:	n/a	n/a
3	CTCF	chr1:155030520-155030670	AG04449	skin:	n/a	n/a
4	CTCF	chr1:155030540-155030690	GM12878	blood:	n/a	n/a
5	CTCF	chr1:155030460-155030610	HRE	kidney:	n/a	n/a
6	CTCF	chr1:155030480-155030630	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr1:155030460-155030610	GM12866	blood:	n/a	n/a
8	CTCF	chr1:155030480-155030630	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr1:155030520-155030670	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr1:155030540-155030690	GM12865	blood:	n/a	n/a
11	CTCF	chr1:155030480-155030630	GM12865	blood:	n/a	n/a
12	CTCF	chr1:155030540-155030690	AG10803	skin:	n/a	n/a
13	CTCF	chr1:155030540-155030690	HVMF	connective:	n/a	n/a
14	CTCF	chr1:155030500-155030650	Caco-2	colon:	n/a	n/a
15	CTCF	chr1:155030480-155030630	K562	blood:	n/a	n/a
16	CTCF	chr1:155030460-155030610	GM12865	blood:	n/a	n/a
17	CTCF	chr1:155030540-155030690	AG04450	lung:	n/a	n/a
18	CTCF	chr1:155030520-155030670	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr1:155030520-155030670	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr1:155030500-155030650	HMEC	breast:	n/a	n/a
21	CTCF	chr1:155030460-155030610	HCT-116	colon:	n/a	n/a
22	CTCF	chr1:155030540-155030690	WI-38	lung:	n/a	n/a
23	TEAD4	chr1:155030410-155030792	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:155030480-155030630	HCFaa	heart:	n/a	n/a
25	CTCF	chr1:155030460-155030610	GM12874	blood:	n/a	n/a
26	CTCF	chr1:155030480-155030630	GM12864	blood:	n/a	n/a
27	CTCF	chr1:155030520-155030670	GM12871	blood:	n/a	n/a
28	CTCF	chr1:155030460-155030610	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr1:155030540-155030690	AG04449	skin:	n/a	n/a
30	CTCF	chr1:155030211-155030855	A549	lung:	n/a	n/a
31	CTCF	chr1:155030540-155030690	GM12864	blood:	n/a	n/a
32	CTCF	chr1:155030500-155030650	GM12873	blood:	n/a	n/a
33	CTCF	chr1:155030554-155030657	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:155030520-155030670	GM12873	blood:	n/a	n/a
35	CTCF	chr1:155030520-155030670	HMF	breast:	n/a	n/a
36	POLR2A	chr1:155030400-155031105	HL-60	blood:	n/a	n/a
37	CTCF	chr1:155030500-155030650	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr1:155030480-155030630	HMF	breast:	n/a	n/a
39	CTCF	chr1:155030540-155030690	BE2_C	brain:	n/a	n/a
40	CTCF	chr1:155030540-155030690	AG09319	gingival:	n/a	n/a
41	CTCF	chr1:155030520-155030670	NB4	blood:	n/a	n/a
42	CTCF	chr1:155030480-155030630	HepG2	liver:	n/a	n/a
43	CTCF	chr1:155030529-155030654	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:155030520-155030670	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr1:155030440-155030590	HEK293	kidney:	n/a	n/a
46	CTCF	chr1:155030500-155030650	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:155030540-155030690	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:155030520-155030670	GM12872	blood:	n/a	n/a
49	CTCF	chr1:155030500-155030650	BE2_C	brain:	n/a	n/a
50	CTCF	chr1:155030540-155030690	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154971124..154975632-chr1:155030158..155034057,4	K562	blood:
2	chr1:154990094..154990641-chr1:155030119..155030672,2	MCF-7	breast:
3	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:
4	chr1:154969072..154977664-chr1:155030052..155039846,22	MCF-7	breast:

No data

Variant related genes	Relation type
ADAM15	TF binding region
ENSG00000160685	Chromatin interaction
ENSG00000143590	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10158328	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1061122	1.00[JPT][hapmap]
rs11264302	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582128	1.00[JPT][hapmap]
rs1218584	1.00[JPT][hapmap]
rs1218585	1.00[JPT][hapmap]
rs1218587	1.00[JPT][hapmap]
rs1611770	1.00[JPT][hapmap]
rs4845397	1.00[JPT][hapmap]
rs4845402	1.00[JPT][hapmap]
rs6660884	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv524157	chr1:155026942-155030557	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv872456	chr1:155028692-155035611	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11264303	ADAM15	cis	multi-tissue	Pritchard
rs11264303	PI4KB	cis	parietal	SCAN
rs11264303	JTB	cis	parietal	SCAN
rs11264303	S100A3	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155025000-155034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:155025200-155034000	Weak transcription	NH-A	brain
3	chr1:155025200-155034200	Weak transcription	Psoas Muscle	Psoas
4	chr1:155025200-155034200	Weak transcription	NHDF-Ad	bronchial
5	chr1:155025400-155034000	Weak transcription	GM12878-XiMat	blood
6	chr1:155025600-155033800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:155025600-155034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:155025800-155031400	Strong transcription	Fetal Intestine Small	intestine
9	chr1:155025800-155031800	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr1:155025800-155033600	Strong transcription	A549	lung
11	chr1:155025800-155034000	Strong transcription	Brain Cingulate Gyrus	brain
12	chr1:155026000-155030800	Weak transcription	K562	blood
13	chr1:155026000-155033200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:155026000-155033600	Strong transcription	Brain Substantia Nigra	brain
15	chr1:155026000-155033800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:155026000-155033800	Strong transcription	Fetal Stomach	stomach
17	chr1:155026000-155034200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:155026000-155034200	Weak transcription	Right Atrium	heart
19	chr1:155026200-155032600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:155026200-155033000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:155026200-155033200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:155026200-155033400	Strong transcription	HMEC	breast
23	chr1:155026200-155033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:155026200-155033600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:155026200-155033800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:155026200-155033800	Weak transcription	Primary B cells from cord blood	blood
27	chr1:155026200-155033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:155026200-155034000	Weak transcription	Fetal Lung	lung
29	chr1:155026200-155034200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:155026400-155031600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:155026400-155031600	Strong transcription	Hela-S3	cervix
32	chr1:155026400-155032600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155026400-155033200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:155026400-155033400	Strong transcription	Gastric	stomach
35	chr1:155026400-155033400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:155026400-155033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:155026400-155033600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:155026400-155033600	Strong transcription	Brain Anterior Caudate	brain
39	chr1:155026400-155033600	Strong transcription	Ovary	ovary
40	chr1:155026400-155033600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:155026400-155033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:155026400-155033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:155026400-155033800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:155026400-155034000	Strong transcription	Lung	lung
45	chr1:155026600-155032800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:155026600-155032800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:155026600-155033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:155026600-155033200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:155026600-155033400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:155026600-155033400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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