Variant report

Variant	rs1149603
Chromosome Location	chr11:76480570-76480571
allele	C/T
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	POLR2A	chr11:76480318-76481378	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:76480523-76482293	Hela-S3	cervix:	n/a	n/a
3	JUND	chr11:76479941-76481444	A549	lung:	n/a	chr11:76480950-76480961 chr11:76480951-76480961 chr11:76480952-76480960 chr11:76480951-76480961 chr11:76480952-76480959 chr11:76480951-76480961 chr11:76480950-76480962 chr11:76480952-76480960 chr11:76480951-76480961
4	POLR2A	chr11:76478822-76481511	A549	lung:	n/a	n/a
5	EP300	chr11:76479176-76484206	A549	lung:	n/a	chr11:76482306-76482319 chr11:76480952-76480961 chr11:76483592-76483602 chr11:76481902-76481916
6	NR3C1	chr11:76480508-76481261	A549	lung:	n/a	n/a
7	POLR2A	chr11:76480178-76483009	Hela-S3	cervix:	n/a	n/a
8	TCF12	chr11:76480568-76481305	ECC-1	luminal epithelium:	n/a	chr11:76480716-76480726 chr11:76480990-76480997
9	HNF4G	chr11:76480522-76481118	HepG2	liver:	n/a	chr11:76480838-76480851 chr11:76480838-76480853 chr11:76480716-76480738
10	NR3C1	chr11:76480565-76481182	A549	lung:	n/a	n/a
11	POLR2A	chr11:76478856-76481555	A549	lung:	n/a	n/a
12	SMARCB1	chr11:76478986-76481405	Hela-S3	cervix:	n/a	chr11:76480951-76480960
13	TFAP2C	chr11:76480500-76483169	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr11:76479526-76482690	A549	lung:	n/a	chr11:76480629-76480646
15	SP1	chr11:76480448-76481140	HepG2	liver:	n/a	chr11:76480707-76480719 chr11:76480708-76480717 chr11:76480709-76480718 chr11:76480707-76480719 chr11:76480859-76480873
16	FOXA2	chr11:76480462-76481081	A549	lung:	n/a	n/a
17	USF2	chr11:76480398-76482462	Hela-S3	cervix:	n/a	chr11:76482158-76482169 chr11:76480984-76481000
18	SMC3	chr11:76480311-76482494	Hela-S3	cervix:	n/a	n/a
19	HNF4A	chr11:76480370-76481217	HepG2	liver:	n/a	chr11:76480838-76480851 chr11:76480716-76480738
20	RFX5	chr11:76480497-76481085	HepG2	liver:	n/a	n/a
21	MYBL2	chr11:76480560-76481279	HepG2	liver:	n/a	n/a
22	EP300	chr11:76480534-76481374	ECC-1	luminal epithelium:	n/a	chr11:76480952-76480961
23	MYC	chr11:76480329-76482635	Hela-S3	cervix:	n/a	chr11:76480952-76480961
24	CREB1	chr11:76480335-76481157	A549	lung:	n/a	n/a
25	MAX	chr11:76479818-76482940	A549	lung:	n/a	chr11:76480952-76480961
26	EP300	chr11:76480544-76481258	HepG2	liver:	n/a	chr11:76480952-76480961
27	SIX5	chr11:76479461-76482870	A549	lung:	n/a	n/a
28	BCL3	chr11:76479486-76482939	A549	lung:	n/a	chr11:76480327-76480336 chr11:76480952-76480961 chr11:76481907-76481916
29	PBX3	chr11:76480225-76481130	A549	lung:	n/a	n/a
30	HEY1	chr11:76480413-76481261	HepG2	liver:	n/a	n/a
31	BCL3	chr11:76480179-76482816	A549	lung:	n/a	chr11:76480327-76480336 chr11:76480952-76480961 chr11:76481907-76481916
32	MAX	chr11:76480499-76481114	HepG2	liver:	n/a	chr11:76480952-76480961
33	REST	chr11:76479484-76482566	A549	lung:	n/a	chr11:76482046-76482059
34	MAX	chr11:76479743-76483468	A549	lung:	n/a	chr11:76480952-76480961
35	FOXA2	chr11:76480562-76481165	A549	lung:	n/a	n/a
36	TCF12	chr11:76479802-76482463	A549	lung:	n/a	chr11:76482146-76482153 chr11:76480716-76480726 chr11:76482255-76482265 chr11:76480990-76480997
37	POLR2A	chr11:76479514-76481125	A549	lung:	n/a	n/a
38	NR3C1	chr11:76480548-76481295	A549	lung:	n/a	n/a
39	RCOR1	chr11:76480471-76481141	HepG2	liver:	n/a	n/a
40	ETS1	chr11:76480562-76481104	A549	lung:	n/a	n/a
41	CHD2	chr11:76480563-76480978	HepG2	liver:	n/a	n/a
42	MXI1	chr11:76480436-76481197	HepG2	liver:	n/a	n/a
43	MAX	chr11:76478401-76484386	A549	lung:	n/a	chr11:76480952-76480961
44	ETS1	chr11:76479665-76481591	A549	lung:	n/a	chr11:76480074-76480088 chr11:76480224-76480237
45	REST	chr11:76480178-76482474	A549	lung:	n/a	chr11:76482046-76482059
46	POLR2A	chr11:76479158-76482608	HepG2	liver:	n/a	n/a
47	TAF1	chr11:76480112-76481430	A549	lung:	n/a	n/a
48	EP300	chr11:76479517-76484254	A549	lung:	n/a	chr11:76482306-76482319 chr11:76480952-76480961 chr11:76483592-76483602 chr11:76481902-76481916
49	E2F6	chr11:76479846-76481331	A549	lung:	n/a	n/a
50	ATF3	chr11:76480356-76481113	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76477441..76478991-chr11:76479853..76482117,2	K562	blood:
2	chr11:76479684..76482260-chr11:85435259..85436958,2	MCF-7	breast:
3	chr11:76480126..76482018-chr11:76483333..76485190,2	K562	blood:
4	chr11:76479944..76482118-chr20:62168660..62170200,2	MCF-7	breast:
5	chr11:76478547..76482353-chr11:76570414..76574348,5	MCF-7	breast:
6	chr11:76480566..76481459-chr15:99190237..99191110,2	Hela-S3	cervix:
7	chr11:76479171..76486141-chr11:76745972..76752965,12	MCF-7	breast:
8	chr11:76480548..76482359-chr11:76483413..76485313,3	MCF-7	breast:
9	chr11:76479920..76482920-chr11:76492602..76496196,5	K562	blood:

Variant related genes	Relation type
ENSG00000254632	TF binding region
ENSG00000078124	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000259424	Chromatin interaction
ENSG00000255100	Chromatin interaction
ENSG00000198488	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10160769	0.82[AFR][1000 genomes]
rs1149595	0.85[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149600	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1149602	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1149611	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs1149613	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1224953	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1224954	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876361	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1149603	WNT11	cis	parietal	SCAN
rs1149603	RP11-672A2.1	cis	Adipose Subcutaneous	GTEx
rs1149603	SNORD15B	cis	cerebellum	SCAN
rs1149603	P2RY6	cis	parietal	SCAN
rs1149603	GUCY2EP	cis	Thyroid	GTEx
rs1149603	RP11-21L23.4	cis	Adipose Subcutaneous	GTEx
rs1149603	GUCY2EP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76470600-76482000	Weak transcription	Psoas Muscle	Psoas
2	chr11:76473600-76483200	Enhancers	Esophagus	oesophagus
3	chr11:76474000-76481000	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:76474000-76481200	Enhancers	Spleen	Spleen
5	chr11:76474000-76485600	Enhancers	Left Ventricle	heart
6	chr11:76474400-76485400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:76475000-76480800	Enhancers	Fetal Brain Male	brain
8	chr11:76475400-76481800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:76476200-76485600	Enhancers	Fetal Intestine Large	intestine
10	chr11:76476400-76484400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:76476400-76485200	Enhancers	Fetal Intestine Small	intestine
12	chr11:76477400-76484000	Weak transcription	Aorta	Aorta
13	chr11:76477600-76480600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:76478000-76480800	Flanking Active TSS	Liver	Liver
15	chr11:76478000-76481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:76478200-76481000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:76478400-76480800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:76478400-76481000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:76478400-76481000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:76478400-76481200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:76478400-76482200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:76478400-76483000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:76478400-76483200	Enhancers	HMEC	breast
24	chr11:76478400-76485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:76478600-76480600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:76478600-76480800	Enhancers	Fetal Lung	lung
27	chr11:76478600-76480800	Enhancers	Ovary	ovary
28	chr11:76478600-76481200	Enhancers	Right Ventricle	heart
29	chr11:76478600-76482800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:76478600-76483200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:76478600-76483600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:76478600-76483600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:76478600-76483600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:76478600-76483800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:76478800-76480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:76478800-76480600	Enhancers	Fetal Thymus	thymus
37	chr11:76478800-76480800	Enhancers	Right Atrium	heart
38	chr11:76478800-76481000	Enhancers	Lung	lung
39	chr11:76478800-76482800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:76478800-76483600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:76478800-76484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:76478800-76485600	Enhancers	Placenta	Placenta
43	chr11:76479000-76480600	Enhancers	HUVEC	blood vessel
44	chr11:76479000-76480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:76479000-76481200	Enhancers	Osteobl	bone
46	chr11:76479000-76481400	Enhancers	Gastric	stomach
47	chr11:76479000-76481600	Enhancers	GM12878-XiMat	blood
48	chr11:76479000-76483000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:76479000-76483000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:76479000-76483400	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links