Variant report

Variant	rs11231923
Chromosome Location	chr11:64782488-64782489
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	POLR2A	chr11:64780662-64782497	K562	blood:	n/a	n/a
2	RCOR1	chr11:64780965-64782576	Hela-S3	cervix:	n/a	n/a
3	GATA1	chr11:64781141-64782534	PBDE	blood:	n/a	chr11:64782370-64782377 chr11:64782370-64782377 chr11:64782368-64782377 chr11:64782003-64782020 chr11:64782370-64782377 chr11:64782368-64782378
4	SIN3AK20	chr11:64780727-64782536	MCF-7	breast:	n/a	n/a
5	CBX3	chr11:64780768-64782686	K562	blood:	n/a	n/a
6	POLR2A	chr11:64780828-64782667	PFSK-1	brain:	n/a	n/a
7	MAX	chr11:64780844-64782542	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
8	POLR2A	chr11:64780667-64782568	HUVEC	blood vessel:	n/a	n/a
9	RCOR1	chr11:64780842-64782588	K562	blood:	n/a	n/a
10	MAX	chr11:64780519-64782556	HepG2	liver:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
11	POLR2A	chr11:64780675-64782875	HepG2	liver:	n/a	n/a
12	CTCF	chr11:64780643-64782594	HCT-116	colon:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781804-64781822 chr11:64781658-64781671 chr11:64781137-64781153 chr11:64781896-64781909 chr11:64782028-64782041 chr11:64781805-64781821 chr11:64781139-64781148 chr11:64781655-64781673
13	RCOR1	chr11:64780869-64782515	K562	blood:	n/a	n/a
14	CREB1	chr11:64780712-64782504	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:64780520-64782505	U87	brain:	n/a	n/a
16	POLR2A	chr11:64780694-64782532	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:64780876-64782539	Raji	blood:	n/a	n/a
18	TAL1	chr11:64780918-64782517	K562	blood:	n/a	n/a
19	TCF12	chr11:64780759-64782490	A549	lung:	n/a	chr11:64782318-64782325
20	BACH1	chr11:64781098-64782490	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr11:64780926-64782512	A549	lung:	n/a	chr11:64781518-64781531 chr11:64781434-64781447
22	USF1	chr11:64780789-64782492	HCT-116	colon:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
23	POLR2A	chr11:64780641-64782623	K562	blood:	n/a	n/a
24	MAX	chr11:64780755-64782617	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
25	MYC	chr11:64780341-64782634	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
26	EGR1	chr11:64780809-64782507	HCT-116	colon:	n/a	chr11:64781065-64781075 chr11:64781062-64781075
27	MAZ	chr11:64780600-64782559	IMR90	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
28	HCFC1	chr11:64780427-64782533	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr11:64780681-64782637	A549	lung:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781804-64781822 chr11:64781658-64781671 chr11:64781137-64781153 chr11:64781896-64781909 chr11:64782028-64782041 chr11:64781805-64781821 chr11:64781139-64781148 chr11:64781655-64781673
30	POLR2A	chr11:64780915-64782655	K562	blood:	n/a	n/a
31	RCOR1	chr11:64780697-64782692	IMR90	lung:	n/a	n/a
32	GATA2	chr11:64782168-64782506	SH-SY5Y	brain:	n/a	chr11:64782370-64782377 chr11:64782370-64782377 chr11:64782368-64782377 chr11:64782370-64782377 chr11:64782368-64782378
33	POLR2A	chr11:64780601-64782499	U87	brain:	n/a	n/a
34	MAX	chr11:64780849-64782498	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
35	NR2F2	chr11:64780716-64782580	K562	blood:	n/a	n/a
36	MTA3	chr11:64780624-64782546	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:64780792-64782604	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:64780791-64782491	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:64780704-64783907	SK-N-MC	brain:	n/a	n/a
40	MAX	chr11:64780614-64782511	HepG2	liver:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
41	CTCF	chr11:64780675-64782689	SK-N-SH	brain:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781804-64781822 chr11:64781658-64781671 chr11:64781137-64781153 chr11:64781896-64781909 chr11:64782028-64782041 chr11:64781805-64781821 chr11:64781139-64781148 chr11:64781655-64781673
42	CREB1	chr11:64780904-64782611	K562	blood:	n/a	n/a
43	POLR2A	chr11:64781025-64782504	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:64780687-64782489	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64764464..64766186-chr11:64782207..64784388,2	K562	blood:
2	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
3	chr11:64781519..64783137-chr11:66622872..66625514,2	MCF-7	breast:
4	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
5	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
6	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
7	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
8	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
9	chr11:64781559..64786098-chr11:64888152..64890441,5	MCF-7	breast:
10	chr11:64780520..64784503-chr11:64834796..64838390,5	MCF-7	breast:
11	chr11:64780460..64784208-chr11:64862018..64864261,3	K562	blood:
12	chr11:64660891..64664747-chr11:64780644..64783500,5	K562	blood:
13	chr11:64739428..64743212-chr11:64780553..64782608,3	K562	blood:
14	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
15	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
16	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
17	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
18	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
19	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
20	chr11:64781206..64783031-chr11:64845885..64848053,2	MCF-7	breast:
21	chr11:64680687..64682746-chr11:64781182..64783404,2	K562	blood:
22	chr11:64782119..64784477-chr11:64813341..64814905,2	MCF-7	breast:
23	chr11:64663247..64665501-chr11:64780433..64782538,2	K562	blood:
24	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:
25	chr11:64781815..64785733-chr11:64830700..64833952,3	MCF-7	breast:
26	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
27	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
28	chr11:64781693..64784252-chr11:64827327..64829336,2	MCF-7	breast:
29	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
30	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
31	chr11:64780038..64784183-chr11:64845056..64847666,6	K562	blood:
32	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
33	chr11:64781095..64782950-chr11:64792399..64795150,2	MCF-7	breast:
34	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
35	chr11:64781661..64782563-chr9:132815713..132816653,2	Hela-S3	cervix:
36	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
37	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
38	chr11:64781269..64783468-chr11:64850067..64853147,4	MCF-7	breast:
39	chr11:64571261..64574122-chr11:64781837..64784528,2	K562	blood:
40	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
41	chr11:64780841..64783611-chr11:64936959..64938535,2	K562	blood:
42	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
43	chr11:64660429..64663235-chr11:64780866..64783681,3	MCF-7	breast:

Variant related genes	Relation type
ARL2	TF binding region
ENSG00000270775	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000148358	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11824646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146543	0.84[EUR][1000 genomes]
rs17146569	0.97[EUR][1000 genomes]
rs17146575	0.97[EUR][1000 genomes]
rs17673281	0.84[EUR][1000 genomes]
rs4081424	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58717149	0.90[EUR][1000 genomes]
rs7103328	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	esv3421449	chr11:64780801-64783349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64780600-64782800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:64780600-64783000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:64780800-64782600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:64780800-64782600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64780800-64782800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:64780800-64782800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:64780800-64783000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:64781000-64782600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:64781000-64782600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:64781000-64782600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:64781000-64782600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:64781000-64782600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:64781000-64782600	Active TSS	Fetal Kidney	kidney
14	chr11:64781000-64782600	Active TSS	HSMMtube	muscle
15	chr11:64781000-64782600	Active TSS	NHDF-Ad	bronchial
16	chr11:64781000-64782800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:64781000-64782800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:64781000-64782800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:64781000-64782800	Active TSS	Hela-S3	cervix
20	chr11:64781000-64783000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:64781000-64783000	Active TSS	A549	lung
22	chr11:64781200-64782600	Active TSS	Gastric	stomach
23	chr11:64781200-64782600	Active TSS	Right Atrium	heart
24	chr11:64781400-64782600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:64781400-64782600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr11:64781400-64782800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:64781600-64782600	Active TSS	HSMM	muscle
28	chr11:64781600-64783000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64781800-64782600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:64781800-64782600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr11:64781800-64782600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:64782000-64782600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:64782000-64782600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr11:64782000-64782600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr11:64782000-64782600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:64782000-64782600	Flanking Active TSS	HMEC	breast
37	chr11:64782000-64782800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:64782000-64783200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:64782200-64782600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:64782200-64782600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:64782200-64782600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:64782200-64782600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:64782200-64782600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:64782200-64782600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr11:64782200-64782600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr11:64782200-64782600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:64782200-64782600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:64782200-64782600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:64782200-64782600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:64782200-64782600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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