Variant report

Variant	rs11165264
Chromosome Location	chr1:95321036-95321037
allele	A/G
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	JUND	chr1:95319733-95321301	HCT-116	colon:	n/a	n/a
2	RAD21	chr1:95319756-95321078	IMR90	lung:	n/a	chr1:95320122-95320141 chr1:95320733-95320746
3	RAD21	chr1:95319718-95321066	HCT-116	colon:	n/a	chr1:95320122-95320141 chr1:95320733-95320746
4	RXRA	chr1:95319858-95321343	SK-N-SH	brain:	n/a	chr1:95320661-95320670
5	MYC	chr1:95320518-95321175	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:95320459-95321068	HUVEC	blood vessel:	n/a	n/a
7	TEAD4	chr1:95319957-95321308	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr1:95319871-95321519	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr1:95319863-95321355	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr1:95319886-95321344	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr1:95319670-95321173	Hela-S3	cervix:	n/a	chr1:95320123-95320137
12	CHD2	chr1:95319958-95321132	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:95319364-95321348	SK-N-SH	brain:	n/a	chr1:95320123-95320144 chr1:95320121-95320139 chr1:95320124-95320137
14	TCF7L2	chr1:95319925-95321086	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr1:95320539-95321154	Hela-S3	cervix:	n/a	n/a
16	FOS	chr1:95320475-95321186	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr1:95320398-95321049	A549	lung:	n/a	n/a
18	GATA2	chr1:95319762-95321317	HUVEC	blood vessel:	n/a	n/a
19	STAT3	chr1:95320006-95321185	MCF10A-Er-Src	breast:	n/a	n/a
20	SMARCC1	chr1:95319777-95321154	Hela-S3	cervix:	n/a	chr1:95321074-95321083
21	ZNF143	chr1:95320602-95321301	Hela-S3	cervix:	n/a	n/a
22	ZNF263	chr1:95320586-95321155	HEK293-T-REx	kidney:	n/a	n/a
23	NFIC	chr1:95319891-95321291	SK-N-SH	brain:	n/a	n/a
24	USF2	chr1:95319895-95321131	Hela-S3	cervix:	n/a	chr1:95320082-95320093
25	FOS	chr1:95320474-95321173	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr1:95320498-95321170	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr1:95319892-95321100	SK-N-SH_RA	brain:	n/a	chr1:95320122-95320141 chr1:95320733-95320746
28	MXI1	chr1:95320548-95321118	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr1:95320458-95321262	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr1:95319969-95321310	SK-N-SH	brain:	n/a	n/a
31	MAX	chr1:95319989-95321177	Hela-S3	cervix:	n/a	chr1:95320083-95320092
32	RCOR1	chr1:95319949-95321271	Hela-S3	cervix:	n/a	n/a
33	TEAD4	chr1:95320497-95321131	ECC-1	luminal epithelium:	n/a	n/a
34	MXI1	chr1:95319761-95321414	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr1:95319875-95321561	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr1:95319858-95321384	SK-N-SH	brain:	n/a	n/a
37	MAX	chr1:95319906-95321196	SK-N-SH	brain:	n/a	chr1:95320083-95320092
38	STAT3	chr1:95321001-95321185	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr1:95319994-95321426	SK-N-SH	brain:	n/a	n/a
40	FOS	chr1:95320062-95321172	MCF10A-Er-Src	breast:	n/a	n/a
41	EP300	chr1:95320923-95321259	SK-N-SH_RA	brain:	n/a	n/a
42	MAFK	chr1:95319763-95321186	Hela-S3	cervix:	n/a	chr1:95320661-95320671 chr1:95320662-95320671
43	RAD21	chr1:95319506-95321518	SK-N-SH	brain:	n/a	chr1:95320122-95320141 chr1:95320733-95320746
44	CEBPB	chr1:95319962-95321069	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr1:95319930-95321172	Hela-S3	cervix:	n/a	chr1:95320083-95320092
46	GTF2F1	chr1:95319870-95321193	Hela-S3	cervix:	n/a	n/a
47	SMC3	chr1:95319384-95321325	SK-N-SH	brain:	n/a	chr1:95320123-95320137
48	EP300	chr1:95319816-95321446	SK-N-SH	brain:	n/a	n/a
49	MAX	chr1:95319891-95321252	SK-N-SH	brain:	n/a	chr1:95320083-95320092
50	GATA3	chr1:95319861-95321401	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000237416	TF binding region

rs_ID	r²[population]
rs11803359	0.82[AFR][1000 genomes]
rs11808106	0.88[AFR][1000 genomes]
rs12071833	0.88[AFR][1000 genomes]
rs12076356	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082063	0.85[EUR][1000 genomes]
rs35405772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95301800-95328600	Strong transcription	Fetal Intestine Large	intestine
2	chr1:95312800-95328200	Weak transcription	Fetal Lung	lung
3	chr1:95315200-95328000	Weak transcription	Gastric	stomach
4	chr1:95318600-95322000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:95319400-95321400	Enhancers	Fetal Heart	heart
6	chr1:95319600-95322600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:95319800-95321200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:95319800-95321400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:95319800-95321400	Enhancers	NH-A	brain
10	chr1:95320200-95321400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:95320400-95321200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:95320400-95321200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:95320400-95321200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:95320400-95321200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:95320400-95321200	Enhancers	Small Intestine	intestine
16	chr1:95320400-95322000	Enhancers	Stomach Mucosa	stomach
17	chr1:95320400-95322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:95320400-95323000	Enhancers	Placenta	Placenta
19	chr1:95320400-95327800	Weak transcription	HepG2	liver
20	chr1:95320400-95329400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:95320600-95321200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:95320600-95321200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr1:95320600-95321200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:95320600-95321200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:95320600-95321200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:95320600-95321200	Enhancers	Brain Germinal Matrix	brain
27	chr1:95320600-95321200	Enhancers	Left Ventricle	heart
28	chr1:95320600-95321200	Flanking Active TSS	A549	lung
29	chr1:95320600-95321200	Enhancers	HSMM	muscle
30	chr1:95320600-95321200	Flanking Active TSS	NHEK	skin
31	chr1:95320600-95321200	Enhancers	NHLF	lung
32	chr1:95320600-95321400	Enhancers	Brain Hippocampus Middle	brain
33	chr1:95320600-95321400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:95320600-95321600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:95320600-95321600	Enhancers	HUVEC	blood vessel
36	chr1:95320600-95321800	Enhancers	Fetal Muscle Leg	muscle
37	chr1:95320600-95321800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:95320600-95325000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:95320800-95321200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:95320800-95321200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr1:95320800-95321200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:95320800-95321200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:95320800-95321200	Enhancers	Brain Anterior Caudate	brain
44	chr1:95320800-95321200	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:95320800-95321200	Flanking Active TSS	Hela-S3	cervix
46	chr1:95320800-95321200	Enhancers	NHDF-Ad	bronchial
47	chr1:95320800-95321200	Enhancers	Osteobl	bone
48	chr1:95320800-95321400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:95320800-95321400	Enhancers	Colon Smooth Muscle	Colon
50	chr1:95320800-95321400	Enhancers	HSMMtube	muscle

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