Variant report

Variant	rs11264796
Chromosome Location	chr1:153960130-153960131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:153960095-153960366	GM12878	blood:	n/a	n/a
2	ZNF384	chr1:153960115-153960350	K562	blood:	n/a	n/a
3	GTF3C2	chr1:153959002-153960341	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153960103-153960153	ECC-1	luminal epithelium:	n/a
2	chr1:153960103-153960153	NT2-D1	testis:	n/a
3	chr1:153960103-153960153	AG09309	skin:	n/a
4	chr1:153960103-153960153	MCF10A-Er-Src	breast:	n/a
5	chr1:153960103-153960153	SK-N-MC	brain:	n/a
6	chr1:153960103-153960153	HL-60	blood:	n/a
7	chr1:153960103-153960153	PANC-1	pancreas:	n/a
8	chr1:153960103-153960153	GM12892	blood:	n/a
9	chr1:153960103-153960153	MCF-7	breast:	n/a
10	chr1:153960103-153960153	PrEC	prostate:	n/a
11	chr1:153960103-153960153	U87	brain:	n/a
12	chr1:153960103-153960153	CMK	blood:	n/a
13	chr1:153960103-153960153	HAEpiC	amniotic membrane:	n/a
14	chr1:153960103-153960153	ProgFib	skin:	n/a
15	chr1:153960103-153960153	NH-A	brain:	n/a
16	chr1:153960103-153960153	GM12878	blood:	n/a
17	chr1:153960103-153960153	HCF	heart:	n/a
18	chr1:153960103-153960153	Jurkat	blood:	n/a
19	chr1:153960103-153960153	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:153960103-153960153	HMEC	breast:	n/a
21	chr1:153960103-153960153	A549	lung:	n/a
22	chr1:153960103-153960153	LNCaP	prostate:	n/a
23	chr1:153960103-153960153	SK-N-SH_RA	brain:	n/a
24	chr1:153960103-153960153	NB4	blood:	n/a
25	chr1:153960103-153960153	HUVEC	blood vessel:	n/a
26	chr1:153960103-153960153	Hepatocyte	liver:	n/a
27	chr1:153960103-153960153	SKMC	muscle:	n/a
28	chr1:153960103-153960153	GM19239	blood:	n/a
29	chr1:153960103-153960153	HRPEpiC	eye:	n/a
30	chr1:153960103-153960153	PFSK-1	brain:	n/a
31	chr1:153960103-153960153	RPTEC	kidney:	n/a
32	chr1:153960103-153960153	AG10803	skin:	n/a
33	chr1:153960103-153960153	HCT-116	colon:	n/a
34	chr1:153960103-153960153	HepG2	liver:	n/a
35	chr1:153960103-153960153	NHDF-neo	bronchial:	n/a
36	chr1:153960103-153960153	HCPEpiC	choroid plexus:	n/a
37	chr1:153960103-153960153	K562	blood:	n/a
38	chr1:153960103-153960153	H1-hESC	embryonic stem cell:	embryo
39	chr1:153960103-153960153	HNPCEpiC	eye:	n/a
40	chr1:153960103-153960153	GM12891	blood:	n/a
41	chr1:153960103-153960153	AG04450	lung:	fetal
42	chr1:153960103-153960153	BJ	skin:	n/a
43	chr1:153960103-153960153	AoSMC	blood vessel:	n/a
44	chr1:153960103-153960153	AG09319	gingival:	n/a
45	chr1:153960103-153960153	SAEC	small airway:	n/a
46	chr1:153960103-153960153	GM06990	blood:	n/a
47	chr1:153960103-153960153	HEK293	kidney:	embryo
48	chr1:153960103-153960153	HEEpiC	esophagus:	n/a
49	chr1:153960103-153960153	BE2_C	brain:	n/a
50	chr1:153960103-153960153	HIPEpiC	eye:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153643510..153646467-chr1:153957647..153960335,2	MCF-7	breast:
2	chr1:153959341..153960872-chr1:154191508..154193330,2	MCF-7	breast:
3	chr1:153956669..153960770-chr1:153962921..153965060,7	MCF-7	breast:
4	chr1:153754805..153756401-chr1:153959056..153960876,2	K562	blood:
5	chr1:153959573..153961568-chr1:154154463..154157194,2	MCF-7	breast:
6	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:

No data

Variant related genes	Relation type
RPS27	TF binding region
RAB13	TF binding region
RPS27	CpG island
RAB13	CpG island
ENSG00000143549	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143569	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12733587	1.00[LWK][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153958600-153962800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:153958800-153962600	Weak transcription	Lung	lung
3	chr1:153958800-153962600	Weak transcription	Spleen	Spleen
4	chr1:153958800-153962800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:153959000-153962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:153959200-153960400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:153959200-153962600	Weak transcription	Pancreas	Pancrea
8	chr1:153959200-153963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:153959200-153963200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:153959400-153961400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:153959400-153962600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:153959400-153962600	Weak transcription	Placenta	Placenta
13	chr1:153959400-153962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:153959400-153963200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:153959600-153960200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:153959600-153960200	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:153959600-153960200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:153959600-153960200	Enhancers	Fetal Thymus	thymus
19	chr1:153959600-153960200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:153959600-153960400	Active TSS	HepG2	liver
21	chr1:153959600-153962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:153959600-153962400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:153959600-153962400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:153959600-153962600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:153959600-153962600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:153959600-153962600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:153959600-153962600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:153959600-153962600	Weak transcription	Fetal Brain Male	brain
29	chr1:153959600-153962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:153959600-153962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:153959600-153962800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:153959600-153962800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:153959600-153962800	Weak transcription	Liver	Liver
34	chr1:153959600-153962800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:153959600-153962800	Weak transcription	Colonic Mucosa	Colon
36	chr1:153959600-153962800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:153959600-153962800	Weak transcription	Fetal Kidney	kidney
38	chr1:153959600-153962800	Weak transcription	Fetal Lung	lung
39	chr1:153959600-153962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:153959600-153962800	Weak transcription	HSMM	muscle
41	chr1:153959600-153962800	Weak transcription	HUVEC	blood vessel
42	chr1:153959600-153962800	Weak transcription	Osteobl	bone
43	chr1:153959600-153963000	Weak transcription	Fetal Heart	heart
44	chr1:153959800-153960200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:153959800-153960200	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:153959800-153960200	Active TSS	GM12878-XiMat	blood
47	chr1:153959800-153960400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:153959800-153962400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:153959800-153962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:153959800-153962400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links