Variant report

Variant	rs73466377
Chromosome Location	chr11:45826240-45826241
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	SP1	chr11:45826140-45827209	A549	lung:	n/a	chr11:45826584-45826595 chr11:45826616-45826627 chr11:45827059-45827072 chr11:45826560-45826572 chr11:45826562-45826571 chr11:45826560-45826572 chr11:45826651-45826661 chr11:45826770-45826784 chr11:45826769-45826781 chr11:45826651-45826661 chr11:45826561-45826571 chr11:45826561-45826570 chr11:45826560-45826571 chr11:45826561-45826571 chr11:45826562-45826571
2	MAX	chr11:45825740-45827898	K562	blood:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
3	MAX	chr11:45825707-45826259	A549	lung:	n/a	chr11:45825726-45825736
4	POLR2A	chr11:45825748-45827332	GM18505	blood:	n/a	n/a
5	POLR2A	chr11:45825843-45827779	Raji	blood:	n/a	n/a
6	ZNF263	chr11:45825671-45826665	HEK293-T-REx	kidney:	n/a	chr11:45825774-45825783
7	POLR2A	chr11:45825377-45828009	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:45825827-45827525	GM12878	blood:	n/a	n/a
9	CTCF	chr11:45826240-45826390	AG10803	skin:	n/a	n/a
10	MAX	chr11:45825657-45827409	Hela-S3	cervix:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45825726-45825736 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
11	POLR2A	chr11:45825514-45827177	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr11:45826060-45827472	K562	blood:	n/a	n/a
13	POLR2A	chr11:45826232-45827497	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:45826119-45827435	SK-N-MC	brain:	n/a	n/a
15	ELF1	chr11:45825420-45827007	HCT-116	colon:	n/a	chr11:45826192-45826201 chr11:45825877-45825890 chr11:45826846-45826858 chr11:45826559-45826571 chr11:45826176-45826188
16	POLR2A	chr11:45825333-45827867	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:45826185-45827456	HL-60	blood:	n/a	n/a
18	SIN3AK20	chr11:45826199-45826437	A549	lung:	n/a	n/a
19	E2F6	chr11:45825887-45827982	K562	blood:	n/a	chr11:45825897-45825906
20	POLR2A	chr11:45826237-45827031	GM12878	blood:	n/a	n/a
21	ELF1	chr11:45825620-45826876	GM12878	blood:	n/a	chr11:45826192-45826201 chr11:45825877-45825890 chr11:45826846-45826858 chr11:45826559-45826571 chr11:45826176-45826188
22	CTCF	chr11:45826240-45826390	HepG2	liver:	n/a	n/a
23	ELF1	chr11:45826166-45826838	A549	lung:	n/a	chr11:45826192-45826201 chr11:45826559-45826571 chr11:45826176-45826188
24	TCF7L2	chr11:45825833-45826811	Hela-S3	cervix:	n/a	n/a
25	MAX	chr11:45825274-45827516	A549	lung:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45825726-45825736 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
26	POLR2A	chr11:45825740-45826292	HUVEC	blood vessel:	n/a	n/a
27	MAFK	chr11:45825758-45826715	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr11:45826209-45827818	HepG2	liver:	n/a	n/a
29	TCF12	chr11:45825594-45827325	A549	lung:	n/a	chr11:45825695-45825702 chr11:45825600-45825607
30	POLR2A	chr11:45825801-45828074	K562	blood:	n/a	n/a
31	POLR2A	chr11:45826238-45826953	U87	brain:	n/a	n/a
32	POLR2A	chr11:45825762-45827312	GM19099	blood:	n/a	n/a
33	POLR2A	chr11:45825426-45827941	MCF-7	breast:	n/a	n/a
34	E2F6	chr11:45825604-45827105	A549	lung:	n/a	chr11:45825897-45825906 chr11:45825726-45825735
35	SMC3	chr11:45825721-45827378	Hela-S3	cervix:	n/a	chr11:45826223-45826233
36	POLR2A	chr11:45825640-45826820	HCT-116	colon:	n/a	n/a
37	POLR2A	chr11:45825672-45827427	GM18526	blood:	n/a	n/a
38	POLR2A	chr11:45826198-45827386	Hela-S3	cervix:	n/a	n/a
39	REST	chr11:45826237-45826785	A549	lung:	n/a	n/a
40	POLR2A	chr11:45825798-45827231	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:45825594-45827970	HUVEC	blood vessel:	n/a	n/a
42	MXI1	chr11:45825528-45828037	HepG2	liver:	n/a	chr11:45826643-45826652 chr11:45826645-45826654 chr11:45826643-45826652
43	MAX	chr11:45825586-45827431	ECC-1	luminal epithelium:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45825726-45825736 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
44	MXI1	chr11:45825741-45827416	Hela-S3	cervix:	n/a	chr11:45826643-45826652 chr11:45826645-45826654 chr11:45826643-45826652
45	POLR2A	chr11:45825748-45827789	GM19193	blood:	n/a	n/a
46	ELF1	chr11:45826226-45826958	K562	blood:	n/a	chr11:45826846-45826858 chr11:45826559-45826571
47	POLR2A	chr11:45825575-45827636	ProgFib	skin:	n/a	n/a
48	ELF1	chr11:45826195-45826826	HepG2	liver:	n/a	chr11:45826559-45826571
49	MYC	chr11:45825777-45827150	MCF10A-Er-Src	breast:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
50	MAZ	chr11:45825861-45827633	K562	blood:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653

No.	Distal block	Cell Line	Cell type
1	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
2	chr11:45825804..45827423-chr13:20531319..20533538,2	MCF-7	breast:
3	chr11:45826170..45827093-chr11:45939119..45939790,2	NB4	blood:
4	chr11:45826095..45826729-chr19:13048997..13049830,2	Hela-S3	cervix:
5	chr11:45826004..45826970-chr16:3767028..3767620,2	NB4	blood:
6	chr11:45825935..45826688-chr11:68038905..68039480,2	Hela-S3	cervix:
7	chr11:45825531..45829159-chr11:45866510..45869041,3	K562	blood:
8	chr10:65280654..65281403-chr11:45826054..45827052,3	HCT-116	colon:
9	chr1:54303790..54304293-chr11:45826176..45826827,2	Hela-S3	cervix:
10	chr11:45825535..45826270-chr2:69870204..69870841,2	Hela-S3	cervix:
11	chr1:89989924..89990841-chr11:45825646..45826317,2	Hela-S3	cervix:
12	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
13	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
14	chr1:11969686..11970356-chr11:45825973..45827120,3	Hela-S3	cervix:
15	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
16	chr11:45824638..45826704-chr11:45938955..45940480,2	MCF-7	breast:
17	chr11:45825952..45826619-chr16:2255438..2256390,2	Hela-S3	cervix:
18	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
19	chr1:147806278..147807229-chr11:45825816..45826645,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC35C1	TF binding region
ENSG00000058804	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000126602	Chromatin interaction
ENSG00000115977	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000167965	Chromatin interaction
ENSG00000197147	Chromatin interaction
ENSG00000121741	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000165476	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11038654	1.00[EUR][1000 genomes]
rs11038656	1.00[EUR][1000 genomes]
rs12271020	1.00[EUR][1000 genomes]
rs12272338	1.00[EUR][1000 genomes]
rs12272905	1.00[EUR][1000 genomes]
rs12282904	1.00[EUR][1000 genomes]
rs12289812	1.00[EUR][1000 genomes]
rs12291940	1.00[EUR][1000 genomes]
rs12295162	1.00[EUR][1000 genomes]
rs2457964	0.85[EUR][1000 genomes]
rs2593736	1.00[EUR][1000 genomes]
rs2593743	0.85[EUR][1000 genomes]
rs2593744	0.85[EUR][1000 genomes]
rs2593748	0.85[EUR][1000 genomes]
rs28826038	1.00[EUR][1000 genomes]
rs58042321	0.86[EUR][1000 genomes]
rs61882470	1.00[ASN][1000 genomes]
rs73468335	0.84[EUR][1000 genomes]
rs7480518	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45825200-45826400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:45825200-45827000	Active TSS	Stomach Smooth Muscle	stomach
3	chr11:45825200-45827200	Active TSS	Brain Anterior Caudate	brain
4	chr11:45825200-45827200	Active TSS	Brain Cingulate Gyrus	brain
5	chr11:45825200-45827600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:45825200-45827600	Active TSS	Fetal Kidney	kidney
7	chr11:45825400-45826400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:45825400-45826400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:45825400-45826400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:45825400-45826400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr11:45825400-45826400	Flanking Active TSS	Dnd41	blood
12	chr11:45825400-45826600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:45825400-45826600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:45825400-45826600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:45825400-45826600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:45825400-45827000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:45825400-45827000	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr11:45825400-45827000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:45825400-45827000	Active TSS	Fetal Brain Female	brain
20	chr11:45825400-45827000	Active TSS	Pancreas	Pancrea
21	chr11:45825400-45827000	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:45825400-45827200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:45825400-45827200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:45825400-45827200	Active TSS	Liver	Liver
25	chr11:45825400-45827200	Active TSS	Brain Angular Gyrus	brain
26	chr11:45825400-45827200	Active TSS	Brain Hippocampus Middle	brain
27	chr11:45825400-45827200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:45825400-45827200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:45825400-45827200	Active TSS	Brain Substantia Nigra	brain
30	chr11:45825400-45827200	Active TSS	Colon Smooth Muscle	Colon
31	chr11:45825400-45827200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:45825400-45827200	Active TSS	Esophagus	oesophagus
33	chr11:45825400-45827200	Active TSS	Fetal Lung	lung
34	chr11:45825400-45827200	Active TSS	Lung	lung
35	chr11:45825400-45827200	Active TSS	Right Atrium	heart
36	chr11:45825400-45827200	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr11:45825400-45827200	Active TSS	HSMM	muscle
38	chr11:45825400-45827400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:45825400-45827400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:45825400-45827400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:45825400-45827400	Active TSS	Aorta	Aorta
42	chr11:45825400-45827400	Active TSS	Left Ventricle	heart
43	chr11:45825400-45827400	Active TSS	Ovary	ovary
44	chr11:45825400-45827400	Active TSS	Psoas Muscle	Psoas
45	chr11:45825400-45827400	Active TSS	Small Intestine	intestine
46	chr11:45825400-45827400	Active TSS	HSMMtube	muscle
47	chr11:45825400-45827400	Active TSS	NHLF	lung
48	chr11:45825400-45827600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:45825400-45827600	Bivalent/Poised TSS	HepG2	liver
50	chr11:45825400-45827800	Active TSS	A549	lung

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