Variant report

Variant	rs11810571
Chromosome Location	chr1:151762308-151762309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr1:151762308-151764216	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr1:151762260-151764320	MCF-7	breast:	n/a	n/a
3	EGR1	chr1:151762200-151763654	MCF-7	breast:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
4	RCOR1	chr1:151762087-151764336	IMR90	lung:	n/a	n/a
5	SIN3AK20	chr1:151762238-151764160	MCF-7	breast:	n/a	n/a
6	MAX	chr1:151762096-151764240	MCF-7	breast:	n/a	chr1:151763829-151763839
7	HCFC1	chr1:151762293-151763862	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr1:151760827-151765002	SK-N-SH	brain:	n/a	chr1:151761465-151761474
9	MXI1	chr1:151761776-151764760	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151762261-151762311	HCT-116	colon:	n/a
2	chr1:151762261-151762311	AoSMC	blood vessel:	n/a
3	chr1:151762261-151762311	GM12878	blood:	n/a
4	chr1:151762261-151762311	NB4	blood:	n/a
5	chr1:151762261-151762311	MCF-7	breast:	n/a
6	chr1:151762261-151762311	ProgFib	skin:	n/a
7	chr1:151762261-151762311	RPTEC	kidney:	n/a
8	chr1:151762261-151762311	NHDF-neo	bronchial:	n/a
9	chr1:151762261-151762311	HCF	heart:	n/a
10	chr1:151762261-151762311	HMEC	breast:	n/a
11	chr1:151762261-151762311	GM19239	blood:	n/a
12	chr1:151762261-151762311	PFSK-1	brain:	n/a
13	chr1:151762261-151762311	HL-60	blood:	n/a
14	chr1:151762261-151762311	NHBE	bronchial:	n/a
15	chr1:151762261-151762311	SKMC	muscle:	n/a
16	chr1:151762261-151762311	PANC-1	pancreas:	n/a
17	chr1:151762261-151762311	NT2-D1	testis:	n/a
18	chr1:151762261-151762311	GM06990	blood:	n/a
19	chr1:151762261-151762311	PrEC	prostate:	n/a
20	chr1:151762261-151762311	GM12892	blood:	n/a
21	chr1:151762261-151762311	CMK	blood:	n/a
22	chr1:151762261-151762311	A549	lung:	n/a
23	chr1:151762261-151762311	HCM	heart:	n/a
24	chr1:151762261-151762311	SK-N-SH	brain:	n/a
25	chr1:151762261-151762311	AG04449	skin:	fetal
26	chr1:151762261-151762311	SK-N-SH_RA	brain:	n/a
27	chr1:151762261-151762311	AG09319	gingival:	n/a
28	chr1:151762261-151762311	MCF10A-Er-Src	breast:	n/a
29	chr1:151762261-151762311	ovcar-3	ovarian:	n/a
30	chr1:151762261-151762311	IMR90	lung:	fetal
31	chr1:151762261-151762311	BE2_C	brain:	n/a
32	chr1:151762261-151762311	SK-N-MC	brain:	n/a
33	chr1:151762261-151762311	HUVEC	blood vessel:	n/a
34	chr1:151762261-151762311	GM12891	blood:	n/a
35	chr1:151762261-151762311	ECC-1	luminal epithelium:	n/a
36	chr1:151762261-151762311	Jurkat	blood:	n/a
37	chr1:151762261-151762311	AG10803	skin:	n/a
38	chr1:151762261-151762311	HRE	kidney:	n/a
39	chr1:151762261-151762311	H1-hESC	embryonic stem cell:	embryo
40	chr1:151762261-151762311	Hepatocyte	liver:	n/a
41	chr1:151762261-151762311	HRPEpiC	eye:	n/a
42	chr1:151762261-151762311	AG09309	skin:	n/a
43	chr1:151762261-151762311	T-47D	breast:	n/a
44	chr1:151762261-151762311	HAEpiC	amniotic membrane:	n/a
45	chr1:151762261-151762311	HEK293	kidney:	embryo
46	chr1:151762261-151762311	HCPEpiC	choroid plexus:	n/a
47	chr1:151762261-151762311	NH-A	brain:	n/a
48	chr1:151762261-151762311	LNCaP	prostate:	n/a
49	chr1:151762261-151762311	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:151762261-151762311	HRCEpiC	kidney:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
2	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
3	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
4	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
5	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
6	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
7	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
8	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
9	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
10	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
11	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
12	chr1:151759662..151762835-chr1:151769243..151771568,4	K562	blood:
13	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203288	TF binding region
ENSG00000203288	CpG island
ENSG00000143450	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143458	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1054479	0.97[EUR][1000 genomes]
rs10788809	0.98[EUR][1000 genomes]
rs11204884	0.94[EUR][1000 genomes]
rs11204892	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11585294	0.99[EUR][1000 genomes]
rs11586946	0.99[EUR][1000 genomes]
rs11588258	0.82[EUR][1000 genomes]
rs11588634	0.82[EUR][1000 genomes]
rs1196456	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12238987	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1521185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3790514	0.97[EUR][1000 genomes]
rs3811414	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811415	0.99[EUR][1000 genomes]
rs3811416	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4504897	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4618976	0.99[EUR][1000 genomes]
rs4845356	1.00[EUR][1000 genomes]
rs4845570	1.00[EUR][1000 genomes]
rs4845575	0.81[AMR][1000 genomes]
rs4845579	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6659705	0.99[EUR][1000 genomes]
rs6664467	0.82[EUR][1000 genomes]
rs6673002	0.97[EUR][1000 genomes]
rs6673917	0.97[EUR][1000 genomes]
rs6681093	1.00[EUR][1000 genomes]
rs6683364	0.97[EUR][1000 genomes]
rs6694952	0.98[EUR][1000 genomes]
rs7416415	0.99[EUR][1000 genomes]
rs7542898	0.97[EUR][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	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736800-151762600	Weak transcription	Gastric	stomach
2	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
4	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
5	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151746000-151762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:151747000-151762400	Weak transcription	Psoas Muscle	Psoas
9	chr1:151747000-151762400	Weak transcription	Right Ventricle	heart
10	chr1:151747200-151762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151747600-151762400	Weak transcription	Pancreas	Pancrea
12	chr1:151748600-151762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:151748800-151762400	Weak transcription	Colonic Mucosa	Colon
14	chr1:151749200-151762600	Weak transcription	Spleen	Spleen
15	chr1:151749400-151762400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:151749600-151762600	Weak transcription	Lung	lung
17	chr1:151751200-151762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:151751400-151762400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:151751600-151762400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:151752400-151762400	Weak transcription	Ovary	ovary
21	chr1:151754400-151762400	Weak transcription	Placenta	Placenta
22	chr1:151754600-151762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:151755000-151762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:151755400-151762400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:151755400-151762600	Weak transcription	Aorta	Aorta
26	chr1:151756200-151762400	Weak transcription	Left Ventricle	heart
27	chr1:151757000-151762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:151759400-151762400	Weak transcription	Hela-S3	cervix
29	chr1:151761600-151762400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:151761600-151763000	Flanking Active TSS	Dnd41	blood
31	chr1:151761800-151764600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:151762000-151762400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:151762000-151762400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:151762000-151762400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:151762000-151762400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:151762000-151762400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:151762000-151762400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:151762000-151762400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:151762000-151762400	Enhancers	Liver	Liver
40	chr1:151762000-151762400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:151762000-151762400	Enhancers	Brain Substantia Nigra	brain
42	chr1:151762000-151762400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr1:151762000-151762400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:151762000-151762400	Active TSS	GM12878-XiMat	blood
45	chr1:151762000-151762600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:151762000-151762600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:151762000-151762600	Flanking Active TSS	K562	blood
48	chr1:151762000-151763000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:151762000-151764200	Active TSS	Fetal Kidney	kidney
50	chr1:151762000-151764400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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