Variant report

Variant	rs12284331
Chromosome Location	chr11:74660055-74660056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr11:74659834-74660519	GM12878	blood:	n/a	n/a
2	ZEB1	chr11:74659862-74660501	GM12878	blood:	n/a	chr11:74659920-74659931
3	REST	chr11:74659964-74660499	SK-N-SH	brain:	n/a	n/a
4	CREB1	chr11:74659878-74660524	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:74659741-74660807	Hela-S3	cervix:	n/a	n/a
6	MYC	chr11:74660032-74660405	HUVEC	blood vessel:	n/a	n/a
7	GATA2	chr11:74659834-74660943	SH-SY5Y	brain:	n/a	n/a
8	RFX5	chr11:74659797-74660430	GM12878	blood:	n/a	chr11:74660278-74660287
9	REST	chr11:74659927-74660491	SK-N-SH	brain:	n/a	n/a
10	PML	chr11:74659761-74660604	K562	blood:	n/a	n/a
11	PML	chr11:74659535-74660581	K562	blood:	n/a	n/a
12	YY1	chr11:74660050-74660749	HepG2	liver:	n/a	chr11:74660320-74660340 chr11:74660185-74660194
13	YY1	chr11:74659896-74660694	K562	blood:	n/a	chr11:74660320-74660340 chr11:74660185-74660194
14	ATF3	chr11:74659965-74660492	HepG2	liver:	n/a	n/a
15	ARID3A	chr11:74659918-74660153	K562	blood:	n/a	n/a
16	RUNX3	chr11:74659747-74660565	GM12878	blood:	n/a	n/a
17	MYBL2	chr11:74659509-74660556	HepG2	liver:	n/a	n/a
18	TEAD4	chr11:74659876-74660553	K562	blood:	n/a	n/a
19	USF1	chr11:74660008-74660462	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP4	chr11:74659919-74660425	H1-hESC	embryonic stem cell:	n/a	n/a
21	RFX5	chr11:74659891-74660470	H1-hESC	embryonic stem cell:	n/a	chr11:74660278-74660287
22	HDAC2	chr11:74659738-74660360	MCF-7	breast:	n/a	n/a
23	MXI1	chr11:74659795-74660486	K562	blood:	n/a	n/a
24	MAX	chr11:74659656-74660755	HCT-116	colon:	n/a	n/a
25	SIN3AK20	chr11:74660033-74660383	A549	lung:	n/a	n/a
26	JUND	chr11:74659969-74660513	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr11:74659974-74660730	SK-N-SH_RA	brain:	n/a	chr11:74660320-74660340 chr11:74660185-74660194
28	CREB1	chr11:74660043-74660446	A549	lung:	n/a	n/a
29	E2F6	chr11:74659698-74660506	H1-hESC	embryonic stem cell:	n/a	chr11:74660277-74660286
30	POLR2A	chr11:74659757-74660684	HUVEC	blood vessel:	n/a	n/a
31	TBP	chr11:74659904-74660652	H1-hESC	embryonic stem cell:	n/a	n/a
32	TBL1XR1	chr11:74659993-74660524	K562	blood:	n/a	n/a
33	TAF1	chr11:74659645-74660870	A549	lung:	n/a	n/a
34	POLR2A	chr11:74659649-74660589	K562	blood:	n/a	n/a
35	POLR2A	chr11:74660045-74660434	HepG2	liver:	n/a	n/a
36	SIX5	chr11:74660004-74660475	K562	blood:	n/a	n/a
37	HA-E2F1	chr11:74659835-74661150	MCF-7	breast:	n/a	chr11:74661006-74661018 chr11:74660277-74660286
38	RELA	chr11:74659864-74660437	GM19193	blood:	n/a	n/a
39	POLR2A	chr11:74659757-74660616	PFSK-1	brain:	n/a	n/a
40	YY1	chr11:74659920-74660923	SK-N-SH_RA	brain:	n/a	chr11:74660320-74660340 chr11:74660185-74660194
41	TBL1XR1	chr11:74659944-74660537	K562	blood:	n/a	n/a
42	POLR2A	chr11:74659813-74660577	SK-N-MC	brain:	n/a	n/a
43	USF1	chr11:74660022-74660408	A549	lung:	n/a	n/a
44	POLR2A	chr11:74659660-74660552	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:74659730-74660836	GM12892	blood:	n/a	n/a
46	TCF12	chr11:74659773-74660578	ECC-1	luminal epithelium:	n/a	chr11:74659922-74659929
47	HCFC1	chr11:74659436-74661559	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:74659842-74660600	GM18526	blood:	n/a	n/a
49	MAX	chr11:74659888-74660393	H1-hESC	embryonic stem cell:	n/a	n/a
50	GTF2F1	chr11:74659725-74660696	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74660055-74660105	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:74660055-74660105	PFSK-1	brain:	n/a
3	chr11:74660038-74660088	GM12892	blood:	n/a
4	chr11:74660038-74660088	AG09309	skin:	n/a
5	chr11:74660055-74660105	NB4	blood:	n/a
6	chr11:74660055-74660105	ECC-1	luminal epithelium:	n/a
7	chr11:74660055-74660105	AG09319	gingival:	n/a
8	chr11:74660055-74660105	HCPEpiC	choroid plexus:	n/a
9	chr11:74660055-74660105	HMEC	breast:	n/a
10	chr11:74660038-74660088	IMR90	lung:	fetal
11	chr11:74660038-74660088	HNPCEpiC	eye:	n/a
12	chr11:74660055-74660105	H1-hESC	embryonic stem cell:	embryo
13	chr11:74660055-74660105	Caco-2	colon:	n/a
14	chr11:74660055-74660105	ovcar-3	ovarian:	n/a
15	chr11:74660055-74660105	MCF-7	breast:	n/a
16	chr11:74660055-74660105	GM06990	blood:	n/a
17	chr11:74660038-74660088	NHBE	bronchial:	n/a
18	chr11:74660038-74660088	RPTEC	kidney:	n/a
19	chr11:74660038-74660088	NHDF-neo	bronchial:	n/a
20	chr11:74660055-74660105	A549	lung:	n/a
21	chr11:74660038-74660088	AoSMC	blood vessel:	n/a
22	chr11:74660055-74660105	HEEpiC	esophagus:	n/a
23	chr11:74660038-74660088	U87	brain:	n/a
24	chr11:74660038-74660088	AG04449	skin:	fetal
25	chr11:74660055-74660105	HCF	heart:	n/a
26	chr11:74660055-74660105	BJ	skin:	n/a
27	chr11:74660055-74660105	SKMC	muscle:	n/a
28	chr11:74660055-74660105	NHDF-neo	bronchial:	n/a
29	chr11:74660038-74660088	HIPEpiC	eye:	n/a
30	chr11:74660038-74660088	MCF10A-Er-Src	breast:	n/a
31	chr11:74660038-74660088	BE2_C	brain:	n/a
32	chr11:74660055-74660105	HEK293	kidney:	embryo
33	chr11:74660038-74660088	HMEC	breast:	n/a
34	chr11:74660038-74660088	MCF-7	breast:	n/a
35	chr11:74660055-74660105	ProgFib	skin:	n/a
36	chr11:74660055-74660105	K562	blood:	n/a
37	chr11:74660038-74660088	ProgFib	skin:	n/a
38	chr11:74660055-74660105	IMR90	lung:	fetal
39	chr11:74660055-74660105	HepG2	liver:	n/a
40	chr11:74660038-74660088	BJ	skin:	n/a
41	chr11:74660038-74660088	AG09319	gingival:	n/a
42	chr11:74660038-74660088	Caco-2	colon:	n/a
43	chr11:74660038-74660088	NT2-D1	testis:	n/a
44	chr11:74660038-74660088	GM19239	blood:	n/a
45	chr11:74660055-74660105	HIPEpiC	eye:	n/a
46	chr11:74660038-74660088	HCT-116	colon:	n/a
47	chr11:74660038-74660088	K562	blood:	n/a
48	chr11:74660055-74660105	HAEpiC	amniotic membrane:	n/a
49	chr11:74660055-74660105	GM19239	blood:	n/a
50	chr11:74660055-74660105	NHBE	bronchial:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74659008..74661915-chr11:74699636..74702523,6	MCF-7	breast:
2	chr11:74654949..74658411-chr11:74658805..74662988,5	MCF-7	breast:
3	chr11:74459112..74461560-chr11:74659129..74661254,3	MCF-7	breast:
4	chr11:74656443..74658415-chr11:74658426..74661700,3	MCF-7	breast:
5	chr11:74659109..74661906-chr11:74698267..74701116,3	K562	blood:
6	chr11:74658436..74661013-chr11:74696774..74699429,2	MCF-7	breast:
7	chr11:74631440..74633367-chr11:74659822..74661525,2	MCF-7	breast:
8	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
9	chr11:74658459..74662580-chr11:74698519..74701644,8	MCF-7	breast:
10	chr11:74647283..74650920-chr11:74658326..74663032,5	K562	blood:
11	chr11:74660042..74660660-chrX:40594695..40595229,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRRA1-1	chr11:74659973-74660176	NONHSAT022970
2	lnc-XRRA1-1	chr11:74659973-74660207	NONHSAT022969

No data

Variant related genes	Relation type
ENSG00000265344	TF binding region
SPCS2	TF binding region
ENSG00000265344	CpG island
SPCS2	CpG island
ENSG00000162139	Chromatin interaction
ENSG00000255136	Chromatin interaction
ENSG00000166435	Chromatin interaction
ENSG00000180182	Chromatin interaction
ENSG00000265344	Chromatin interaction
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10160407	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.83[AMR][1000 genomes]
rs11236247	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236293	0.83[AMR][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12270712	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271211	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12271960	0.83[AMR][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12273852	0.83[AMR][1000 genomes]
rs12274227	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275050	0.83[AMR][1000 genomes]
rs12275056	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12286425	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12287287	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12290339	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	0.83[AMR][1000 genomes]
rs12295546	0.83[AMR][1000 genomes]
rs13343191	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1439677	0.83[AMR][1000 genomes]
rs28637653	0.85[AMR][1000 genomes]
rs4133526	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111955	0.83[AMR][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73498736	0.83[AMR][1000 genomes]
rs73498737	0.83[AMR][1000 genomes]
rs7928010	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74658600-74661600	Active TSS	K562	blood
2	chr11:74658800-74661600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:74659000-74661400	Active TSS	A549	lung
4	chr11:74659000-74661600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:74659000-74661800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:74659200-74660200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:74659200-74661000	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:74659200-74661000	Active TSS	HUVEC	blood vessel
9	chr11:74659200-74661200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:74659200-74661200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:74659200-74661200	Active TSS	Colon Smooth Muscle	Colon
12	chr11:74659200-74661200	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:74659200-74661200	Active TSS	HMEC	breast
14	chr11:74659200-74661200	Active TSS	NH-A	brain
15	chr11:74659200-74661400	Active TSS	Fetal Intestine Small	intestine
16	chr11:74659200-74661400	Active TSS	Right Ventricle	heart
17	chr11:74659200-74661400	Active TSS	NHEK	skin
18	chr11:74659200-74661600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:74659200-74661600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:74659200-74661600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:74659200-74661600	Active TSS	Psoas Muscle	Psoas
22	chr11:74659200-74662200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:74659400-74660400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:74659400-74660800	Active TSS	Fetal Brain Female	brain
25	chr11:74659400-74661000	Active TSS	Primary B cells from peripheral blood	blood
26	chr11:74659400-74661000	Active TSS	Brain Substantia Nigra	brain
27	chr11:74659400-74661000	Active TSS	Thymus	Thymus
28	chr11:74659400-74661200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:74659400-74661400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:74659400-74661400	Active TSS	Fetal Lung	lung
31	chr11:74659400-74661400	Active TSS	Fetal Muscle Leg	muscle
32	chr11:74659400-74661600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:74659400-74661600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:74659400-74661600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:74659400-74661600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:74659400-74661600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:74659400-74661600	Active TSS	Colonic Mucosa	Colon
38	chr11:74659400-74661600	Active TSS	Fetal Intestine Large	intestine
39	chr11:74659400-74661600	Active TSS	Right Atrium	heart
40	chr11:74659400-74661600	Active TSS	HSMMtube	muscle
41	chr11:74659400-74661800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:74659400-74661800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:74659400-74661800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr11:74659400-74661800	Active TSS	Fetal Kidney	kidney
45	chr11:74659400-74661800	Active TSS	NHLF	lung
46	chr11:74659400-74662000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:74659400-74662200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:74659400-74662200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:74659400-74662400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:74659600-74660800	Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links