Variant report

Variant	rs11264311
Chromosome Location	chr1:155054743-155054744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr1:155051293-155055708	NT2-D1	testis:	n/a	n/a
2	USF1	chr1:155054419-155054858	H1-hESC	embryonic stem cell:	n/a	chr1:155054678-155054694
3	MAX	chr1:155054225-155054950	HepG2	liver:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
4	MAX	chr1:155054504-155054753	GM12878	blood:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
5	E2F6	chr1:155054440-155054823	K562	blood:	n/a	chr1:155054702-155054711 chr1:155054686-155054695 chr1:155054629-155054641 chr1:155054597-155054609
6	HMGN3	chr1:155054586-155054786	K562	blood:	n/a	n/a
7	MAX	chr1:155054319-155054881	K562	blood:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
8	E2F6	chr1:155054318-155054784	K562	blood:	n/a	chr1:155054410-155054420 chr1:155054413-155054423 chr1:155054407-155054417 chr1:155054702-155054711 chr1:155054686-155054695 chr1:155054629-155054641 chr1:155054597-155054609
9	E2F6	chr1:155054239-155054828	H1-hESC	embryonic stem cell:	n/a	chr1:155054410-155054420 chr1:155054413-155054423 chr1:155054407-155054417 chr1:155054702-155054711 chr1:155054686-155054695 chr1:155054629-155054641 chr1:155054597-155054609
10	MAX	chr1:155054542-155054743	HepG2	liver:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
11	MAX	chr1:155054185-155054867	H1-hESC	embryonic stem cell:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
12	FOXA1	chr1:155054732-155055018	T-47D	breast:	n/a	n/a
13	MYC	chr1:155054628-155054744	H1-hESC	embryonic stem cell:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
14	MAX	chr1:155054077-155054968	A549	lung:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
15	MAX	chr1:155054316-155054907	ECC-1	luminal epithelium:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
16	MAX	chr1:155054145-155054906	HepG2	liver:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
17	E2F6	chr1:155054463-155054863	K562	blood:	n/a	chr1:155054702-155054711 chr1:155054686-155054695 chr1:155054629-155054641 chr1:155054597-155054609
18	MAX	chr1:155054244-155054858	H1-hESC	embryonic stem cell:	n/a	chr1:155054656-155054665 chr1:155054654-155054664 chr1:155054651-155054666 chr1:155054653-155054668
19	SIN3A	chr1:155052086-155054963	H1-hESC	embryonic stem cell:	n/a	chr1:155052463-155052472 chr1:155053509-155053518 chr1:155053676-155053687 chr1:155053356-155053369 chr1:155053571-155053580 chr1:155053507-155053516 chr1:155054419-155054432 chr1:155052361-155052374 chr1:155053455-155053468

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155054711-155054761	RPTEC	kidney:	n/a
2	chr1:155054711-155054761	HIPEpiC	eye:	n/a
3	chr1:155054711-155054761	PANC-1	pancreas:	n/a
4	chr1:155054711-155054761	MCF10A-Er-Src	breast:	n/a
5	chr1:155054711-155054761	HAEpiC	amniotic membrane:	n/a
6	chr1:155054711-155054761	MCF-7	breast:	n/a
7	chr1:155054711-155054761	HRCEpiC	kidney:	n/a
8	chr1:155054711-155054761	NHBE	bronchial:	n/a
9	chr1:155054711-155054761	Caco-2	colon:	n/a
10	chr1:155054711-155054761	BE2_C	brain:	n/a
11	chr1:155054711-155054761	NT2-D1	testis:	n/a
12	chr1:155054711-155054761	U87	brain:	n/a
13	chr1:155054711-155054761	AG09319	gingival:	n/a
14	chr1:155054711-155054761	SK-N-MC	brain:	n/a
15	chr1:155054711-155054761	HCT-116	colon:	n/a
16	chr1:155054711-155054761	HCPEpiC	choroid plexus:	n/a
17	chr1:155054711-155054761	HL-60	blood:	n/a
18	chr1:155054711-155054761	ECC-1	luminal epithelium:	n/a
19	chr1:155054711-155054761	HepG2	liver:	n/a
20	chr1:155054711-155054761	GM06990	blood:	n/a
21	chr1:155054711-155054761	AG09309	skin:	n/a
22	chr1:155054711-155054761	HEK293	kidney:	embryo
23	chr1:155054711-155054761	GM12878	blood:	n/a
24	chr1:155054711-155054761	SK-N-SH	brain:	n/a
25	chr1:155054711-155054761	HUVEC	blood vessel:	n/a
26	chr1:155054711-155054761	NHDF-neo	bronchial:	n/a
27	chr1:155054711-155054761	GM12891	blood:	n/a
28	chr1:155054711-155054761	AG10803	skin:	n/a
29	chr1:155054711-155054761	Jurkat	blood:	n/a
30	chr1:155054711-155054761	ProgFib	skin:	n/a
31	chr1:155054711-155054761	HMEC	breast:	n/a
32	chr1:155054711-155054761	IMR90	lung:	fetal
33	chr1:155054711-155054761	HRE	kidney:	n/a
34	chr1:155054711-155054761	T-47D	breast:	n/a
35	chr1:155054711-155054761	SK-N-SH_RA	brain:	n/a
36	chr1:155054711-155054761	AoSMC	blood vessel:	n/a
37	chr1:155054711-155054761	LNCaP	prostate:	n/a
38	chr1:155054711-155054761	AG04449	skin:	fetal
39	chr1:155054711-155054761	GM12892	blood:	n/a
40	chr1:155054711-155054761	A549	lung:	n/a
41	chr1:155054711-155054761	HCF	heart:	n/a
42	chr1:155054711-155054761	SKMC	muscle:	n/a
43	chr1:155054711-155054761	HEEpiC	esophagus:	n/a
44	chr1:155054711-155054761	PFSK-1	brain:	n/a
45	chr1:155054711-155054761	HCM	heart:	n/a
46	chr1:155054711-155054761	ovcar-3	ovarian:	n/a
47	chr1:155054711-155054761	Hela-S3	cervix:	n/a
48	chr1:155054711-155054761	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:155054711-155054761	NH-A	brain:	n/a
50	chr1:155054711-155054761	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154970467..154977420-chr1:155052491..155060843,19	MCF-7	breast:
2	chr1:155054721..155059011-chr1:155196588..155199418,3	K562	blood:
3	chr1:154941567..154943092-chr1:155053762..155055661,2	MCF-7	breast:
4	chr1:155052736..155055039-chr1:155107332..155109503,2	K562	blood:
5	chr1:154967268..154977621-chr1:155049775..155059069,28	MCF-7	breast:
6	chr1:154528624..154530149-chr1:155054658..155056691,2	MCF-7	breast:
7	chr1:154989227..154992640-chr1:155054340..155057432,4	MCF-7	breast:
8	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
9	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:
10	chr1:155052471..155058946-chr1:155106509..155113930,10	K562	blood:
11	chr1:155052798..155059451-chr1:155162483..155166744,9	K562	blood:
12	chr1:155052864..155055747-chr1:155138816..155141443,2	K562	blood:
13	chr1:154933277..154935564-chr1:155052521..155055105,3	MCF-7	breast:

Variant related genes	Relation type
EFNA3	TF binding region
EFNA3	CpG island
ENSG00000271380	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000202027	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000169231	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1001848	0.82[AFR][1000 genomes]
rs10908454	0.90[AMR][1000 genomes]
rs10908455	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10908456	0.80[AMR][1000 genomes]
rs11264307	0.82[AFR][1000 genomes]
rs11264321	0.82[AMR][1000 genomes]
rs12039316	0.82[AMR][1000 genomes]
rs12047986	0.87[AFR][1000 genomes]
rs2306124	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4303067	0.80[AMR][1000 genomes]
rs4361977	0.81[AMR][1000 genomes]
rs7367207	0.83[AMR][1000 genomes]
rs7367897	0.82[AMR][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	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155050800-155055200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:155050800-155055800	Enhancers	Lung	lung
3	chr1:155050800-155056000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:155051000-155055000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:155051000-155055200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr1:155051000-155055400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr1:155051000-155055600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:155051200-155055400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
9	chr1:155051400-155055200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr1:155051600-155054800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr1:155051600-155054800	Flanking Bivalent TSS/Enh	A549	lung
12	chr1:155051600-155054800	Bivalent Enhancer	HUVEC	blood vessel
13	chr1:155051800-155055000	Bivalent Enhancer	Liver	Liver
14	chr1:155051800-155055200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:155051800-155055400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:155052000-155055800	Bivalent Enhancer	GM12878-XiMat	blood
17	chr1:155052200-155055400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr1:155052400-155055600	Bivalent Enhancer	Left Ventricle	heart
19	chr1:155052600-155055400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
20	chr1:155052600-155055600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
21	chr1:155053000-155055200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr1:155053000-155055400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr1:155053000-155055400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:155053200-155057200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr1:155053600-155054800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr1:155053600-155055000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:155053600-155055200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr1:155053600-155055200	Bivalent Enhancer	HMEC	breast
29	chr1:155053600-155055600	Bivalent Enhancer	Fetal Heart	heart
30	chr1:155053600-155057000	Enhancers	Pancreas	Pancrea
31	chr1:155053600-155057200	Bivalent Enhancer	Placenta	Placenta
32	chr1:155053600-155057200	Enhancers	Gastric	stomach
33	chr1:155053800-155055200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr1:155053800-155055400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
35	chr1:155053800-155055400	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr1:155053800-155055800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:155053800-155057000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr1:155054000-155054800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr1:155054000-155054800	Flanking Active TSS	Ovary	ovary
40	chr1:155054000-155055000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:155054000-155055400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:155054000-155055400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:155054000-155055400	Enhancers	Spleen	Spleen
44	chr1:155054000-155055600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr1:155054200-155054800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:155054200-155054800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:155054200-155055000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:155054200-155055000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr1:155054200-155055000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr1:155054200-155055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links