Variant report

Variant	rs11552757
Chromosome Location	chr3:49397742-49397743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:49397152-49397829	T-47D	breast:	n/a	n/a
2	SP1	chr3:49396499-49397875	H1-hESC	embryonic stem cell:	n/a	chr3:49396527-49396541
3	POLR2A	chr3:49394614-49397838	HepG2	liver:	n/a	n/a
4	MYC	chr3:49397727-49397822	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:49397551-49397775	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49397699-49397749	HL-60	blood:	n/a
2	chr3:49397699-49397749	ECC-1	luminal epithelium:	n/a
3	chr3:49397699-49397749	HCT-116	colon:	n/a
4	chr3:49397699-49397749	K562	blood:	n/a
5	chr3:49397699-49397749	NHBE	bronchial:	n/a
6	chr3:49397699-49397749	T-47D	breast:	n/a
7	chr3:49397699-49397749	NHDF-neo	bronchial:	n/a
8	chr3:49397699-49397749	SAEC	small airway:	n/a
9	chr3:49397699-49397749	GM12892	blood:	n/a
10	chr3:49397699-49397749	HUVEC	blood vessel:	n/a
11	chr3:49397699-49397749	HAEpiC	amniotic membrane:	n/a
12	chr3:49397699-49397749	AG09319	gingival:	n/a
13	chr3:49397699-49397749	AoSMC	blood vessel:	n/a
14	chr3:49397699-49397749	AG04450	lung:	fetal
15	chr3:49397699-49397749	RPTEC	kidney:	n/a
16	chr3:49397699-49397749	HEK293	kidney:	embryo
17	chr3:49397699-49397749	HNPCEpiC	eye:	n/a
18	chr3:49397699-49397749	AG09309	skin:	n/a
19	chr3:49397699-49397749	U87	brain:	n/a
20	chr3:49397699-49397749	PFSK-1	brain:	n/a
21	chr3:49397699-49397749	Hepatocyte	liver:	n/a
22	chr3:49397699-49397749	SK-N-SH_RA	brain:	n/a
23	chr3:49397699-49397749	BJ	skin:	n/a
24	chr3:49397699-49397749	AG10803	skin:	n/a
25	chr3:49397699-49397749	SKMC	muscle:	n/a
26	chr3:49397699-49397749	HCF	heart:	n/a
27	chr3:49397699-49397749	GM06990	blood:	n/a
28	chr3:49397699-49397749	GM19239	blood:	n/a
29	chr3:49397699-49397749	AG04449	skin:	fetal
30	chr3:49397699-49397749	Caco-2	colon:	n/a
31	chr3:49397699-49397749	GM12891	blood:	n/a
32	chr3:49397699-49397749	HIPEpiC	eye:	n/a
33	chr3:49397699-49397749	HRPEpiC	eye:	n/a
34	chr3:49397699-49397749	BE2_C	brain:	n/a
35	chr3:49397699-49397749	GM12878	blood:	n/a
36	chr3:49397699-49397749	ProgFib	skin:	n/a
37	chr3:49397699-49397749	NT2-D1	testis:	n/a
38	chr3:49397699-49397749	PrEC	prostate:	n/a
39	chr3:49397699-49397749	HCM	heart:	n/a
40	chr3:49397699-49397749	HRCEpiC	kidney:	n/a
41	chr3:49397699-49397749	ovcar-3	ovarian:	n/a
42	chr3:49397699-49397749	IMR90	lung:	fetal
43	chr3:49397699-49397749	HCPEpiC	choroid plexus:	n/a
44	chr3:49397699-49397749	NH-A	brain:	n/a
45	chr3:49397699-49397749	H1-hESC	embryonic stem cell:	embryo
46	chr3:49397699-49397749	MCF10A-Er-Src	breast:	n/a
47	chr3:49397699-49397749	Jurkat	blood:	n/a
48	chr3:49397699-49397749	SK-N-MC	brain:	n/a
49	chr3:49397699-49397749	Hela-S3	cervix:	n/a
50	chr3:49397699-49397749	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:49376495..49379313-chr3:49396208..49398833,3	K562	blood:
2	chr3:49388313..49390760-chr3:49397473..49400161,2	K562	blood:
3	chr3:49396806..49398601-chr3:49448529..49450801,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPX1	TF binding region
GPX1	CpG island
ENSG00000114316	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction

rs_ID	r²[population]
rs11717154	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11717156	1.00[MEX][hapmap]
rs11925136	1.00[YRI][hapmap]
rs12637561	1.00[YRI][hapmap]
rs35867420	1.00[LWK][hapmap]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49396200-49397800	Genic enhancers	NH-A	brain
2	chr3:49396200-49398200	Weak transcription	Ovary	ovary
3	chr3:49396400-49397800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:49396400-49397800	Genic enhancers	NHDF-Ad	bronchial
5	chr3:49396400-49397800	Genic enhancers	NHLF	lung
6	chr3:49396400-49398600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:49396400-49401600	Genic enhancers	Osteobl	bone
8	chr3:49396400-49413600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:49396400-49418600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:49396600-49397800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:49396600-49397800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:49396600-49397800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:49396600-49397800	Genic enhancers	HMEC	breast
14	chr3:49396600-49398000	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr3:49396600-49398000	Genic enhancers	HSMM	muscle
16	chr3:49396600-49398000	Strong transcription	K562	blood
17	chr3:49396600-49399000	Genic enhancers	Hela-S3	cervix
18	chr3:49396600-49399800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:49396600-49401400	Strong transcription	Primary B cells from cord blood	blood
20	chr3:49396600-49401400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr3:49396600-49401600	Strong transcription	Colon Smooth Muscle	Colon
22	chr3:49396600-49403600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:49396600-49406200	Strong transcription	Rectal Smooth Muscle	rectum
24	chr3:49396600-49410200	Weak transcription	Psoas Muscle	Psoas
25	chr3:49396600-49413200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:49396600-49413200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:49396600-49413800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:49396600-49414400	Weak transcription	Fetal Brain Male	brain
29	chr3:49396800-49397800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:49396800-49397800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:49396800-49397800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:49396800-49397800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:49396800-49397800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:49396800-49397800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:49396800-49397800	Genic enhancers	HSMMtube	muscle
36	chr3:49396800-49397800	Genic enhancers	NHEK	skin
37	chr3:49396800-49398000	Genic enhancers	HUVEC	blood vessel
38	chr3:49396800-49398400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:49396800-49399000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:49396800-49399800	Strong transcription	Fetal Thymus	thymus
41	chr3:49396800-49399800	Weak transcription	Gastric	stomach
42	chr3:49396800-49401800	Strong transcription	Esophagus	oesophagus
43	chr3:49396800-49401800	Strong transcription	Fetal Lung	lung
44	chr3:49396800-49404000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:49396800-49406000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:49396800-49406000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:49396800-49406200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:49396800-49408000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr3:49396800-49410800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:49396800-49412800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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