Variant report

Variant	rs73484963
Chromosome Location	chr11:65047254-65047255
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	chr11:65047005-65048138	HCT-116	colon:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
2	TCF12	chr11:65047110-65047778	SK-N-SH	brain:	n/a	n/a
3	MAX	chr11:65047204-65047770	SK-N-SH	brain:	n/a	n/a
4	STAT3	chr11:65047204-65047685	MCF10A-Er-Src	breast:	n/a	chr11:65047465-65047474
5	EP300	chr11:65047128-65047780	SK-N-SH	brain:	n/a	chr11:65047637-65047647 chr11:65047466-65047475 chr11:65047179-65047193
6	RUNX3	chr11:65047045-65047509	GM12878	blood:	n/a	n/a
7	FOSL2	chr11:65046999-65047925	A549	lung:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
8	EBF1	chr11:65047145-65047562	GM12878	blood:	n/a	chr11:65047371-65047384 chr11:65047373-65047382
9	RELA	chr11:65047179-65047550	GM19193	blood:	n/a	chr11:65047378-65047387 chr11:65047378-65047387
10	CTCF	chr11:65047140-65047290	AG10803	skin:	n/a	n/a
11	RELA	chr11:65047191-65047511	GM18951	blood:	n/a	chr11:65047378-65047387 chr11:65047378-65047387
12	RUNX3	chr11:65047010-65047617	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:65047136-65047560	SK-N-SH	brain:	n/a	n/a
14	FOSL1	chr11:65047083-65048041	HCT-116	colon:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
15	STAT3	chr11:65047228-65047568	MCF10A-Er-Src	breast:	n/a	chr11:65047465-65047474
16	GATA3	chr11:65047052-65048048	SK-N-SH	brain:	n/a	chr11:65047467-65047476
17	TCF12	chr11:65046985-65048032	SK-N-SH	brain:	n/a	n/a
18	SP1	chr11:65047171-65047644	A549	lung:	n/a	n/a
19	POLR2A	chr11:65047240-65048036	HUVEC	blood vessel:	n/a	n/a
20	STAT3	chr11:65047122-65047505	GM12878	blood:	n/a	chr11:65047465-65047474
21	JUND	chr11:65047174-65047533	A549	lung:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
22	FOSL2	chr11:65047174-65047695	SK-N-SH	brain:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
23	JUND	chr11:65047087-65047882	SK-N-SH	brain:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
24	EP300	chr11:65047254-65047515	GM12878	blood:	n/a	chr11:65047466-65047475
25	SP1	chr11:65047051-65047708	A549	lung:	n/a	n/a
26	FOS	chr11:65047149-65048213	HUVEC	blood vessel:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
27	PBX3	chr11:65047022-65047681	SK-N-SH	brain:	n/a	n/a
28	FOSL1	chr11:65046931-65048227	HCT-116	colon:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
29	FOXA2	chr11:65047221-65047674	A549	lung:	n/a	n/a
30	GATA3	chr11:65046977-65047940	SK-N-SH	brain:	n/a	chr11:65047467-65047476
31	GATA2	chr11:65047198-65048514	HUVEC	blood vessel:	n/a	chr11:65047467-65047476
32	FOS	chr11:65047148-65047853	MCF10A-Er-Src	breast:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
33	POLR2A	chr11:65047207-65047560	U87	brain:	n/a	n/a
34	NFIC	chr11:65047029-65047878	SK-N-SH	brain:	n/a	n/a
35	EBF1	chr11:65047141-65047614	GM12878	blood:	n/a	chr11:65047371-65047384 chr11:65047373-65047382
36	JUND	chr11:65046995-65048173	HCT-116	colon:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
37	EP300	chr11:65047171-65047526	SK-N-SH_RA	brain:	n/a	chr11:65047466-65047475 chr11:65047179-65047193
38	BCL3	chr11:65047053-65047905	A549	lung:	n/a	chr11:65047179-65047188 chr11:65047465-65047474 chr11:65047379-65047388
39	GATA3	chr11:65047187-65047706	A549	lung:	n/a	chr11:65047467-65047476
40	STAT3	chr11:65047239-65047609	MCF10A-Er-Src	breast:	n/a	chr11:65047465-65047474
41	FOS	chr11:65047190-65047772	MCF10A-Er-Src	breast:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
42	FOSL2	chr11:65047069-65047901	SK-N-SH	brain:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
43	FOS	chr11:65047191-65047704	MCF10A-Er-Src	breast:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
44	POLR2A	chr11:65047139-65047810	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:65047228-65047572	Hela-S3	cervix:	n/a	n/a
46	JUND	chr11:65047039-65047819	SK-N-SH	brain:	n/a	chr11:65047356-65047364 chr11:65047359-65047367 chr11:65047467-65047478 chr11:65047466-65047475 chr11:65047466-65047473
47	NFIC	chr11:65047091-65047568	GM12878	blood:	n/a	n/a
48	STAT3	chr11:65047246-65047782	MCF10A-Er-Src	breast:	n/a	chr11:65047465-65047474
49	E2F4	chr11:65047246-65047548	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF7L2	chr11:65047215-65047885	HCT-116	colon:	n/a	chr11:65047465-65047474

No.	Distal block	Cell Line	Cell type
1	chr11:65045775..65048085-chr11:65080584..65082394,3	K562	blood:
2	chr11:65045537..65047496-chr11:65048160..65049775,2	K562	blood:
3	chr11:65045088..65048799-chr11:65081591..65084821,5	MCF-7	breast:
4	chr11:65044749..65047601-chr11:65075341..65077443,2	K562	blood:
5	chr11:65046026..65048425-chr11:65053292..65055276,2	K562	blood:
6	chr11:65045328..65049022-chr11:65119140..65122878,4	MCF-7	breast:
7	chr11:65045374..65047604-chr11:65109962..65112215,2	MCF-7	breast:
8	chr11:65045097..65047406-chr11:65195158..65197268,2	K562	blood:

Variant related genes	Relation type
POLA2	TF binding region
ENSG00000173825	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv976461	chr11:65000821-65054446	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65030200-65058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65030600-65047800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:65030600-65048200	Weak transcription	Aorta	Aorta
4	chr11:65030600-65049400	Weak transcription	Right Ventricle	heart
5	chr11:65030600-65056800	Weak transcription	Right Atrium	heart
6	chr11:65030600-65058000	Weak transcription	Fetal Brain Male	brain
7	chr11:65030600-65058800	Weak transcription	Psoas Muscle	Psoas
8	chr11:65031000-65049800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:65031800-65058000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:65038600-65048400	Weak transcription	Left Ventricle	heart
12	chr11:65040000-65047600	Weak transcription	Spleen	Spleen
13	chr11:65040000-65048200	Weak transcription	Ovary	ovary
14	chr11:65040000-65049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
16	chr11:65042800-65059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
18	chr11:65042800-65072800	Strong transcription	Dnd41	blood
19	chr11:65043000-65048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:65043000-65048200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:65043200-65048400	Weak transcription	Colonic Mucosa	Colon
24	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:65043400-65048000	Weak transcription	Brain Substantia Nigra	brain
27	chr11:65043400-65048200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:65043400-65049600	Weak transcription	Brain Angular Gyrus	brain
29	chr11:65043400-65056000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:65043400-65056000	Weak transcription	Fetal Heart	heart
31	chr11:65043400-65056800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:65043400-65058200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:65043400-65059000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:65043400-65067200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:65043400-65067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:65043600-65047600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:65043600-65065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:65043800-65047600	Weak transcription	Fetal Lung	lung
39	chr11:65043800-65048400	Weak transcription	Fetal Kidney	kidney
40	chr11:65043800-65048600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:65043800-65058000	Strong transcription	K562	blood
42	chr11:65044000-65049200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:65044000-65065600	Strong transcription	Thymus	Thymus
44	chr11:65044200-65048000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:65044400-65048400	Genic enhancers	Fetal Intestine Small	intestine
46	chr11:65044400-65058800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:65044400-65066200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:65044800-65048200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:65044800-65050600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:65045000-65047600	Enhancers	NH-A	brain

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