Variant report

Variant	rs11799776
Chromosome Location	chr1:211809805-211809806
allele	A/G/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	MXI1	chr1:211809581-211810240	Hela-S3	cervix:	n/a	n/a
2	EP300	chr1:211809773-211810166	Hela-S3	cervix:	n/a	n/a
3	FOS	chr1:211809792-211810107	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:211809780-211810243	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr1:211809749-211810286	SK-N-SH	brain:	n/a	n/a
6	SMARCC1	chr1:211809200-211810986	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr1:211809716-211810246	Hela-S3	cervix:	n/a	n/a
8	TEAD4	chr1:211809691-211810223	SK-N-SH	brain:	n/a	n/a
9	SP1	chr1:211809728-211810266	A549	lung:	n/a	n/a
10	MAZ	chr1:211809789-211810244	Hela-S3	cervix:	n/a	n/a
11	EP300	chr1:211809627-211810366	SK-N-SH	brain:	n/a	n/a
12	MYC	chr1:211809603-211810256	Hela-S3	cervix:	n/a	n/a
13	GTF3C2	chr1:211808656-211810403	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr1:211809604-211810391	SK-N-SH	brain:	n/a	n/a
15	RFX5	chr1:211809782-211810237	Hela-S3	cervix:	n/a	n/a
16	MAX	chr1:211809633-211810297	Hela-S3	cervix:	n/a	n/a
17	ELK1	chr1:211809739-211810143	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr1:211809759-211810349	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr1:211809776-211810190	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr1:211809675-211810247	SK-N-SH	brain:	n/a	n/a
21	RCOR1	chr1:211809558-211810306	Hela-S3	cervix:	n/a	n/a
22	TEAD4	chr1:211809715-211810202	HepG2	liver:	n/a	n/a
23	SMARCB1	chr1:211809353-211810640	Hela-S3	cervix:	n/a	n/a
24	MAFK	chr1:211809671-211810223	Hela-S3	cervix:	n/a	n/a
25	RXRA	chr1:211809669-211810385	SK-N-SH	brain:	n/a	chr1:211810079-211810092 chr1:211810078-211810087 chr1:211809967-211809986 chr1:211810079-211810092 chr1:211810077-211810093 chr1:211810079-211810092
26	POLR2A	chr1:211809768-211810156	Hela-S3	cervix:	n/a	n/a
27	SP1	chr1:211809699-211810385	HCT-116	colon:	n/a	n/a
28	NFIC	chr1:211809723-211810211	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr1:211809608-211810395	SK-N-SH	brain:	n/a	n/a
30	MAX	chr1:211809789-211810191	SK-N-SH	brain:	n/a	n/a
31	RXRA	chr1:211809650-211810402	SK-N-SH	brain:	n/a	chr1:211810079-211810092 chr1:211810078-211810087 chr1:211809967-211809986 chr1:211810079-211810092 chr1:211810077-211810093 chr1:211810079-211810092
32	TCF12	chr1:211809695-211810290	A549	lung:	n/a	n/a
33	MAX	chr1:211809723-211810289	A549	lung:	n/a	n/a
34	NFIC	chr1:211809774-211810692	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr1:211809798-211810332	SK-N-SH	brain:	n/a	n/a
36	FOSL2	chr1:211809701-211810268	A549	lung:	n/a	n/a
37	TCF7L2	chr1:211809455-211810358	Hela-S3	cervix:	n/a	n/a
38	PBX3	chr1:211809707-211810212	SK-N-SH	brain:	n/a	n/a
39	SP1	chr1:211809726-211810242	A549	lung:	n/a	n/a
40	RAD21	chr1:211809805-211810231	Hela-S3	cervix:	n/a	n/a
41	MAX	chr1:211809529-211810249	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
2	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
3	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227764	TF binding region
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1123527	1.00[ASN][1000 genomes]
rs12742934	1.00[ASN][1000 genomes]
rs1867376	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2027225	1.00[ASN][1000 genomes]
rs34550869	1.00[ASN][1000 genomes]
rs55960543	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56320548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684175	1.00[ASN][1000 genomes]
rs6694934	1.00[ASN][1000 genomes]
rs726986	1.00[ASN][1000 genomes]
rs745496	1.00[ASN][1000 genomes]
rs7548952	1.00[ASN][1000 genomes]
rs9429874	1.00[ASN][1000 genomes]
rs9430072	1.00[ASN][1000 genomes]
rs9430074	1.00[ASN][1000 genomes]
rs9430077	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211806800-211811600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
5	chr1:211807000-211810600	Weak transcription	Placenta	Placenta
6	chr1:211807000-211811600	Weak transcription	Esophagus	oesophagus
7	chr1:211807000-211812000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
9	chr1:211807000-211816200	Weak transcription	Ovary	ovary
10	chr1:211807200-211812000	Weak transcription	NHLF	lung
11	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
12	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:211807400-211810000	Weak transcription	Spleen	Spleen
14	chr1:211807400-211812200	Weak transcription	NH-A	brain
15	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:211807600-211811600	Weak transcription	Liver	Liver
17	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
19	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
20	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
21	chr1:211808000-211810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:211808600-211810800	Enhancers	Osteobl	bone
23	chr1:211808800-211810600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:211809200-211810200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211809200-211810400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:211809400-211810200	Enhancers	HSMM	muscle
27	chr1:211809400-211810200	Enhancers	NHDF-Ad	bronchial
28	chr1:211809400-211810800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:211809400-211810800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:211809400-211810800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:211809400-211811200	Enhancers	HepG2	liver
32	chr1:211809400-211813000	Enhancers	A549	lung
33	chr1:211809600-211810000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:211809600-211810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:211809600-211810200	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:211809600-211810200	Enhancers	Fetal Intestine Small	intestine
37	chr1:211809600-211810200	Enhancers	HMEC	breast
38	chr1:211809600-211811000	Enhancers	HUVEC	blood vessel
39	chr1:211809800-211810000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:211809800-211810200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:211809800-211810400	Enhancers	Hela-S3	cervix
42	chr1:211809800-211813000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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