Variant report

Variant	rs12290350
Chromosome Location	chr11:76480255-76480256
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	MAX	chr11:76479498-76480509	NB4	blood:	n/a	n/a
2	MYC	chr11:76480178-76480347	MCF10A-Er-Src	breast:	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	POLR2A	chr11:76480178-76483009	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:76478856-76481555	A549	lung:	n/a	n/a
8	SMARCB1	chr11:76478986-76481405	Hela-S3	cervix:	n/a	chr11:76480951-76480960
9	CHD2	chr11:76480232-76480378	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr11:76479526-76482690	A549	lung:	n/a	chr11:76480629-76480646
11	MYC	chr11:76479495-76480360	NB4	blood:	n/a	n/a
12	CEBPB	chr11:76479549-76480256	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:76479818-76482940	A549	lung:	n/a	chr11:76480952-76480961
14	SIX5	chr11:76479461-76482870	A549	lung:	n/a	n/a
15	BCL3	chr11:76479486-76482939	A549	lung:	n/a	chr11:76480327-76480336 chr11:76480952-76480961 chr11:76481907-76481916
16	PBX3	chr11:76480225-76481130	A549	lung:	n/a	n/a
17	BCL3	chr11:76480179-76482816	A549	lung:	n/a	chr11:76480327-76480336 chr11:76480952-76480961 chr11:76481907-76481916
18	REST	chr11:76479484-76482566	A549	lung:	n/a	chr11:76482046-76482059
19	MAX	chr11:76479743-76483468	A549	lung:	n/a	chr11:76480952-76480961
20	TCF12	chr11:76479802-76482463	A549	lung:	n/a	chr11:76482146-76482153 chr11:76480716-76480726 chr11:76482255-76482265 chr11:76480990-76480997
21	POLR2A	chr11:76479514-76481125	A549	lung:	n/a	n/a
22	MAX	chr11:76478401-76484386	A549	lung:	n/a	chr11:76480952-76480961
23	ETS1	chr11:76479665-76481591	A549	lung:	n/a	chr11:76480074-76480088 chr11:76480224-76480237
24	REST	chr11:76480178-76482474	A549	lung:	n/a	chr11:76482046-76482059
25	POLR2A	chr11:76479158-76482608	HepG2	liver:	n/a	n/a
26	TAF1	chr11:76480112-76481430	A549	lung:	n/a	n/a
27	EP300	chr11:76479517-76484254	A549	lung:	n/a	chr11:76482306-76482319 chr11:76480952-76480961 chr11:76483592-76483602 chr11:76481902-76481916
28	E2F6	chr11:76479846-76481331	A549	lung:	n/a	n/a
29	POLR2A	chr11:76478778-76481454	A549	lung:	n/a	n/a
30	SP1	chr11:76480180-76484311	A549	lung:	n/a	chr11:76482603-76482612 chr11:76480707-76480719 chr11:76481685-76481695 chr11:76482249-76482263 chr11:76480708-76480717 chr11:76480709-76480718 chr11:76481685-76481695 chr11:76480707-76480719 chr11:76480859-76480873
31	FOSL2	chr11:76479564-76482987	A549	lung:	n/a	chr11:76480951-76480961 chr11:76480952-76480960 chr11:76480949-76480960 chr11:76480951-76480961 chr11:76480952-76480959 chr11:76480951-76480961 chr11:76480950-76480962 chr11:76480952-76480960 chr11:76480951-76480961
32	TCF12	chr11:76477960-76484560	A549	lung:	n/a	chr11:76482146-76482153 chr11:76480716-76480726 chr11:76482255-76482265 chr11:76480990-76480997 chr11:76483592-76483601
33	YY1	chr11:76480046-76481192	A549	lung:	n/a	n/a
34	PBX3	chr11:76479038-76481305	A549	lung:	n/a	n/a
35	SP1	chr11:76478891-76484193	A549	lung:	n/a	chr11:76480073-76480087 chr11:76482603-76482612 chr11:76480707-76480719 chr11:76481685-76481695 chr11:76482249-76482263 chr11:76480708-76480717 chr11:76480709-76480718 chr11:76481685-76481695 chr11:76480707-76480719 chr11:76480859-76480873
36	MAX	chr11:76479534-76482534	Hela-S3	cervix:	n/a	chr11:76480952-76480961
37	SMARCC1	chr11:76478783-76483027	Hela-S3	cervix:	n/a	chr11:76480951-76480960

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	chr11:76479171..76486141-chr11:76745972..76752965,12	MCF-7	breast:
7	chr11:76479920..76482920-chr11:76492602..76496196,5	K562	blood:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160660	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10160769	0.95[EUR][1000 genomes]
rs10437754	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10793194	0.94[ASW][hapmap];0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10793195	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899278	0.93[EUR][1000 genomes]
rs10899279	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10899280	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10899281	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899282	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899283	0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11236924	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11236936	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12273016	0.80[ASW][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs12282785	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12788118	0.83[EUR][1000 genomes]
rs1440977	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1440978	0.94[CEU][hapmap];0.81[CHB][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1440979	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1440980	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1465900	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1837679	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1837680	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1866843	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3758711	0.94[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4309181	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56228827	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7107409	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs737185	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7933092	0.94[EUR][1000 genomes]
rs7942337	0.93[EUR][1000 genomes]
rs7942368	0.92[EUR][1000 genomes]

No data

Chromatin state (count:104 , 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	chr11:76478200-76480400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:76478200-76481000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:76478400-76480800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:76478400-76481000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:76478400-76481000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:76478400-76481200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:76478400-76482200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:76478400-76483000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:76478400-76483200	Enhancers	HMEC	breast
25	chr11:76478400-76485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:76478600-76480400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:76478600-76480600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:76478600-76480800	Enhancers	Fetal Lung	lung
29	chr11:76478600-76480800	Enhancers	Ovary	ovary
30	chr11:76478600-76481200	Enhancers	Right Ventricle	heart
31	chr11:76478600-76482800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:76478600-76483200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:76478600-76483600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:76478600-76483600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:76478600-76483600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:76478600-76483800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:76478800-76480400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:76478800-76480400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:76478800-76480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:76478800-76480600	Enhancers	Fetal Thymus	thymus
41	chr11:76478800-76480800	Enhancers	Right Atrium	heart
42	chr11:76478800-76481000	Enhancers	Lung	lung
43	chr11:76478800-76482800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:76478800-76483600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:76478800-76484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:76478800-76485600	Enhancers	Placenta	Placenta
47	chr11:76479000-76480400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:76479000-76480600	Enhancers	HUVEC	blood vessel
49	chr11:76479000-76480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:76479000-76481200	Enhancers	Osteobl	bone

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