Variant report

Variant	rs11812065
Chromosome Location	chr1:94245755-94245756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr1:94244668-94246275	HCT-116	colon:	n/a	n/a
2	FOSL2	chr1:94244914-94245826	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr1:94244985-94245881	HCT-116	colon:	n/a	n/a
4	SMARCA4	chr1:94244982-94246023	Hela-S3	cervix:	n/a	n/a
5	JUND	chr1:94244980-94245979	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr1:94244998-94245873	A549	lung:	n/a	n/a
7	POLR2A	chr1:94244538-94245926	HCT-116	colon:	n/a	n/a
8	REST	chr1:94245052-94245800	PFSK-1	brain:	n/a	n/a
9	TEAD4	chr1:94244941-94245929	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr1:94244925-94245851	ECC-1	luminal epithelium:	n/a	n/a
11	FOXA2	chr1:94245021-94245793	A549	lung:	n/a	n/a
12	CHD2	chr1:94244883-94245866	Hela-S3	cervix:	n/a	n/a
13	JUND	chr1:94245089-94245840	T-47D	breast:	n/a	n/a
14	FOSL2	chr1:94244840-94245763	A549	lung:	n/a	n/a
15	TBP	chr1:94245013-94246043	Hela-S3	cervix:	n/a	n/a
16	FOXM1	chr1:94244909-94245937	ECC-1	luminal epithelium:	n/a	n/a
17	USF1	chr1:94245134-94245762	A549	lung:	n/a	n/a
18	GATA3	chr1:94244872-94245865	SK-N-SH	brain:	n/a	chr1:94245258-94245268
19	NFIC	chr1:94244958-94245806	SK-N-SH	brain:	n/a	chr1:94245496-94245513 chr1:94245496-94245512
20	ZKSCAN1	chr1:94245050-94245760	Hela-S3	cervix:	n/a	n/a
21	FOXM1	chr1:94245096-94245787	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:94244245-94245913	MCF10A-Er-Src	breast:	n/a	n/a
23	SP1	chr1:94244536-94246157	HCT-116	colon:	n/a	n/a
24	BRCA1	chr1:94244946-94245926	Hela-S3	cervix:	n/a	n/a
25	GATA2	chr1:94245084-94245787	HUVEC	blood vessel:	n/a	chr1:94245258-94245268
26	MAX	chr1:94244995-94245968	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr1:94244989-94245900	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr1:94244903-94245880	Hela-S3	cervix:	n/a	n/a
29	SIX5	chr1:94244965-94246028	A549	lung:	n/a	n/a
30	MAX	chr1:94245114-94245804	SK-N-SH	brain:	n/a	n/a
31	SMARCC2	chr1:94245045-94245850	Hela-S3	cervix:	n/a	n/a
32	SRF	chr1:94244967-94245895	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:94245072-94245967	Hela-S3	cervix:	n/a	n/a
34	ESR1	chr1:94245080-94245786	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr1:94244829-94245829	SK-N-SH	brain:	n/a	n/a
36	ELK4	chr1:94244973-94246097	Hela-S3	cervix:	n/a	n/a
37	KAP1	chr1:94244918-94245782	U2OS	brain:	n/a	n/a
38	CEBPB	chr1:94245021-94245935	Hela-S3	cervix:	n/a	n/a
39	SMC3	chr1:94245005-94246200	Hela-S3	cervix:	n/a	n/a
40	SP1	chr1:94244881-94245995	A549	lung:	n/a	n/a
41	SP1	chr1:94244696-94246032	HCT-116	colon:	n/a	n/a
42	STAT3	chr1:94245013-94246029	MCF10A-Er-Src	breast:	n/a	chr1:94245394-94245406
43	POLR2A	chr1:94244747-94246035	Hela-S3	cervix:	n/a	n/a
44	EP300	chr1:94244779-94245977	A549	lung:	n/a	n/a
45	STAT3	chr1:94244992-94245968	MCF10A-Er-Src	breast:	n/a	chr1:94245394-94245406
46	TEAD4	chr1:94244947-94245880	A549	lung:	n/a	n/a
47	MAX	chr1:94244927-94245977	A549	lung:	n/a	n/a
48	EP300	chr1:94244906-94245955	ECC-1	luminal epithelium:	n/a	n/a
49	GTF2F1	chr1:94244624-94245864	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:94245025-94245849	HCT-116	colon:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94146376..94151187-chr1:94242377..94246202,6	MCF-7	breast:
2	chr1:94239484..94242137-chr1:94244474..94246678,2	MCF-7	breast:
3	chr1:94079232..94081582-chr1:94245503..94247138,2	MCF-7	breast:
4	chr1:94245247..94246040-chr1:94312298..94313234,2	Hela-S3	cervix:
5	chr1:94145818..94148762-chr1:94243125..94247422,9	MCF-7	breast:
6	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:
7	chr1:94244543..94247746-chr1:94248419..94251309,3	MCF-7	breast:
8	chr1:94167331..94169898-chr1:94245567..94247207,2	MCF-7	breast:
9	chr1:94221637..94224412-chr1:94243135..94245798,2	MCF-7	breast:
10	chr1:94076543..94079128-chr1:94244196..94245876,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-1	chr1:94245712-94246296	NONHSAT004544

No data

Variant related genes	Relation type
ENSG00000230439	TF binding region
ENSG00000230439	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11799613	1.00[EUR][1000 genomes]
rs11799798	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804187	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806874	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807845	1.00[AMR][1000 genomes]
rs11810655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811077	1.00[AMR][1000 genomes]
rs11811811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878956	1.00[AMR][1000 genomes]
rs17881957	1.00[AMR][1000 genomes]
rs17884925	1.00[AMR][1000 genomes]
rs2143995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34212520	1.00[AMR][1000 genomes]
rs57824006	1.00[AMR][1000 genomes]
rs59857996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114825	1.00[AMR][1000 genomes]
rs60465681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698242	0.82[YRI][hapmap];1.00[AMR][1000 genomes]

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
2	chr1:94236200-94247400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:94241000-94247400	Enhancers	HMEC	breast
4	chr1:94241000-94249000	Enhancers	Hela-S3	cervix
5	chr1:94241200-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:94243000-94247800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94243600-94248400	Enhancers	Placenta	Placenta
8	chr1:94244000-94248000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:94244200-94246200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:94244200-94246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:94244400-94246400	Enhancers	HUVEC	blood vessel
12	chr1:94244400-94246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:94244600-94245800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:94244600-94246200	Flanking Active TSS	A549	lung
15	chr1:94244800-94246000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:94244800-94246000	Enhancers	HSMM	muscle
17	chr1:94245000-94245800	Flanking Active TSS	NH-A	brain
18	chr1:94245000-94246000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94245000-94246000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:94245000-94246000	Enhancers	Osteobl	bone
21	chr1:94245000-94246200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:94245000-94246200	Flanking Active TSS	NHEK	skin
23	chr1:94245200-94245800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:94245200-94245800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:94245200-94245800	Enhancers	Psoas Muscle	Psoas
26	chr1:94245200-94245800	Enhancers	HepG2	liver
27	chr1:94245200-94246000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:94245200-94246000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:94245200-94246000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:94245200-94246200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:94245200-94246200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:94245400-94245800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:94245400-94245800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:94245400-94245800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:94245400-94245800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:94245400-94245800	Enhancers	Esophagus	oesophagus
37	chr1:94245400-94246000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:94245400-94246000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:94245400-94246000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:94245400-94246000	Enhancers	Left Ventricle	heart
41	chr1:94245400-94246200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:94245600-94245800	Enhancers	Adipose Nuclei	Adipose
43	chr1:94245600-94253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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