Variant report

Variant	rs58717149
Chromosome Location	chr11:64781891-64781892
allele	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	ELF1	chr11:64781318-64781934	K562	blood:	n/a	chr11:64781796-64781808 chr11:64781829-64781841
2	YY1	chr11:64780953-64782379	K562	blood:	n/a	chr11:64781921-64781932
3	RAD21	chr11:64780904-64782122	ECC-1	luminal epithelium:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153 chr11:64782061-64782073 chr11:64782027-64782041
4	POLR2A	chr11:64780882-64782355	K562	blood:	n/a	n/a
5	CTCF	chr11:64781675-64781949	MCF-7	breast:	n/a	chr11:64781804-64781822 chr11:64781896-64781909 chr11:64781805-64781821
6	RELA	chr11:64780968-64781964	GM19193	blood:	n/a	n/a
7	TAF1	chr11:64781344-64782076	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:64780662-64782497	K562	blood:	n/a	n/a
9	RCOR1	chr11:64780965-64782576	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr11:64780986-64781984	A549	lung:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
11	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
12	HCFC1	chr11:64780966-64782038	K562	blood:	n/a	n/a
13	FOXM1	chr11:64780872-64782031	GM12878	blood:	n/a	n/a
14	MAZ	chr11:64780888-64782261	GM12878	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
15	STAT5A	chr11:64781551-64781925	GM12878	blood:	n/a	chr11:64781893-64781905
16	CREB1	chr11:64780928-64782387	A549	lung:	n/a	n/a
17	SIN3AK20	chr11:64780727-64782536	MCF-7	breast:	n/a	n/a
18	IRF1	chr11:64780971-64781936	K562	blood:	n/a	n/a
19	CBX3	chr11:64780768-64782686	K562	blood:	n/a	n/a
20	POLR2A	chr11:64780844-64782318	GM19099	blood:	n/a	n/a
21	HDAC2	chr11:64781677-64782326	K562	blood:	n/a	n/a
22	CTCF	chr11:64781760-64781910	WI-38	lung:	n/a	chr11:64781804-64781822 chr11:64781896-64781909 chr11:64781805-64781821
23	TBL1XR1	chr11:64780935-64782262	K562	blood:	n/a	n/a
24	CTCF	chr11:64780975-64782134	GM12878	blood:	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
25	MYC	chr11:64781747-64782145	GM12878	blood:	n/a	chr11:64782115-64782125
26	SIN3AK20	chr11:64781091-64782154	K562	blood:	n/a	n/a
27	MAX	chr11:64780974-64782393	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
28	RAD21	chr11:64780959-64781955	HepG2	liver:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
29	RAD21	chr11:64780883-64781952	H1-hESC	embryonic stem cell:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
30	POLR2A	chr11:64780828-64782667	PFSK-1	brain:	n/a	n/a
31	E2F6	chr11:64780882-64782430	A549	lung:	n/a	chr11:64782105-64782115 chr11:64781471-64781481 chr11:64781576-64781585
32	CTCF	chr11:64781375-64782068	SK-N-SH_RA	brain:	n/a	chr11:64781804-64781822 chr11:64781658-64781671 chr11:64781896-64781909 chr11:64782028-64782041 chr11:64781805-64781821 chr11:64781655-64781673
33	RFX5	chr11:64780888-64782207	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr11:64780995-64782364	HCT-116	colon:	n/a	n/a
35	TAF7	chr11:64781004-64782066	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr11:64781455-64781914	HepG2	liver:	n/a	n/a
37	MYC	chr11:64780889-64782427	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
38	CTCF	chr11:64781780-64781930	HVMF	connective:	n/a	chr11:64781804-64781822 chr11:64781896-64781909 chr11:64781805-64781821
39	RAD21	chr11:64780821-64782021	HepG2	liver:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
40	MXI1	chr11:64781135-64781974	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZEB1	chr11:64780982-64781977	GM12878	blood:	n/a	n/a
42	RAD21	chr11:64781317-64782000	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr11:64780959-64782346	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:64781021-64782343	HepG2	liver:	n/a	n/a
45	MAX	chr11:64780844-64782542	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
46	EGR1	chr11:64780907-64782419	K562	blood:	n/a	chr11:64781065-64781075 chr11:64781062-64781075
47	POLR2A	chr11:64780865-64782391	HUVEC	blood vessel:	n/a	n/a
48	MYC	chr11:64781418-64782165	HepG2	liver:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
49	MAX	chr11:64780900-64782359	SK-N-SH	brain:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
50	CTCF	chr11:64781760-64781910	NB4	blood:	n/a	chr11:64781804-64781822 chr11:64781896-64781909 chr11:64781805-64781821

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64781842-64781892	HCT-116	colon:	n/a
2	chr11:64781842-64781892	K562	blood:	n/a
3	chr11:64781842-64781892	PFSK-1	brain:	n/a
4	chr11:64781842-64781892	HRPEpiC	eye:	n/a
5	chr11:64781842-64781892	H1-hESC	embryonic stem cell:	embryo
6	chr11:64781842-64781892	HCPEpiC	choroid plexus:	n/a
7	chr11:64781842-64781892	SK-N-SH_RA	brain:	n/a
8	chr11:64781842-64781892	SK-N-SH	brain:	n/a
9	chr11:64781842-64781892	HepG2	liver:	n/a
10	chr11:64781842-64781892	Jurkat	blood:	n/a
11	chr11:64781842-64781892	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:64781842-64781892	BE2_C	brain:	n/a
13	chr11:64781842-64781892	HMEC	breast:	n/a
14	chr11:64781842-64781892	HRCEpiC	kidney:	n/a
15	chr11:64781842-64781892	HIPEpiC	eye:	n/a
16	chr11:64781842-64781892	A549	lung:	n/a
17	chr11:64781842-64781892	T-47D	breast:	n/a
18	chr11:64781842-64781892	HEK293	kidney:	embryo
19	chr11:64781842-64781892	ProgFib	skin:	n/a
20	chr11:64781842-64781892	NB4	blood:	n/a
21	chr11:64781842-64781892	AG10803	skin:	n/a
22	chr11:64781842-64781892	PANC-1	pancreas:	n/a
23	chr11:64781842-64781892	HRE	kidney:	n/a
24	chr11:64781842-64781892	AG04449	skin:	fetal
25	chr11:64781842-64781892	AG09319	gingival:	n/a
26	chr11:64781842-64781892	NH-A	brain:	n/a
27	chr11:64781842-64781892	SK-N-MC	brain:	n/a
28	chr11:64781842-64781892	RPTEC	kidney:	n/a
29	chr11:64781842-64781892	HL-60	blood:	n/a
30	chr11:64781842-64781892	AG09309	skin:	n/a
31	chr11:64781842-64781892	HNPCEpiC	eye:	n/a
32	chr11:64781842-64781892	MCF10A-Er-Src	breast:	n/a
33	chr11:64781842-64781892	GM19239	blood:	n/a
34	chr11:64781842-64781892	GM12892	blood:	n/a
35	chr11:64781842-64781892	LNCaP	prostate:	n/a
36	chr11:64781842-64781892	Hela-S3	cervix:	n/a
37	chr11:64781842-64781892	Caco-2	colon:	n/a
38	chr11:64781842-64781892	IMR90	lung:	fetal
39	chr11:64781842-64781892	AG04450	lung:	fetal
40	chr11:64781842-64781892	PrEC	prostate:	n/a
41	chr11:64781842-64781892	BJ	skin:	n/a
42	chr11:64781842-64781892	HUVEC	blood vessel:	n/a
43	chr11:64781842-64781892	ovcar-3	ovarian:	n/a
44	chr11:64781842-64781892	HAEpiC	amniotic membrane:	n/a
45	chr11:64781842-64781892	SAEC	small airway:	n/a
46	chr11:64781842-64781892	CMK	blood:	n/a
47	chr11:64781842-64781892	HCM	heart:	n/a
48	chr11:64781842-64781892	NHBE	bronchial:	n/a
49	chr11:64781842-64781892	HCF	heart:	n/a
50	chr11:64781842-64781892	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64781519..64783137-chr11:66622872..66625514,2	MCF-7	breast:
3	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
4	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
5	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
6	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
7	chr1:147735467..147736028-chr11:64781643..64782289,2	HCT-116	colon:
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	chr11:64554818..64555671-chr11:64781741..64782297,2	MCF-7	breast:
15	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
16	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
17	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
18	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
19	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
20	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
21	chr11:64781206..64783031-chr11:64845885..64848053,2	MCF-7	breast:
22	chr11:64680687..64682746-chr11:64781182..64783404,2	K562	blood:
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	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
34	chr11:64781063..64782155-chr11:64884745..64885349,3	MCF-7	breast:
35	chr11:64781095..64782950-chr11:64792399..64795150,2	MCF-7	breast:
36	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
37	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
38	chr11:64781661..64782563-chr9:132815713..132816653,2	Hela-S3	cervix:
39	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
40	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
41	chr11:64781269..64783468-chr11:64850067..64853147,4	MCF-7	breast:
42	chr11:64571261..64574122-chr11:64781837..64784528,2	K562	blood:
43	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
44	chr11:64780841..64783611-chr11:64936959..64938535,2	K562	blood:
45	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
46	chr11:64660429..64663235-chr11:64780866..64783681,3	MCF-7	breast:
47	chr11:64781406..64781925-chr11:64794675..64795369,2	K562	blood:
48	chr11:64781215..64782090-chr11:64863739..64864839,3	K562	blood:

Variant related genes	Relation type
ARL2	TF binding region
ARL2	CpG island
ENSG00000014216	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000199879	Chromatin interaction
ENSG00000148358	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000149792	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11231923	0.90[EUR][1000 genomes]
rs11824646	0.90[EUR][1000 genomes]
rs17146569	0.87[EUR][1000 genomes]
rs17146575	0.87[EUR][1000 genomes]
rs4081424	0.90[EUR][1000 genomes]
rs7103328	0.85[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64780400-64782200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:64780600-64782400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:64780600-64782800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:64780600-64783000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:64780800-64782000	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr11:64780800-64782000	Active TSS	Colonic Mucosa	Colon
7	chr11:64780800-64782200	Active TSS	Brain Germinal Matrix	brain
8	chr11:64780800-64782200	Active TSS	Thymus	Thymus
9	chr11:64780800-64782400	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr11:64780800-64782400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:64780800-64782400	Active TSS	Psoas Muscle	Psoas
12	chr11:64780800-64782400	Active TSS	Spleen	Spleen
13	chr11:64780800-64782600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:64780800-64782600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:64780800-64782800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:64780800-64782800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:64780800-64783000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:64781000-64782000	Active TSS	Stomach Smooth Muscle	stomach
19	chr11:64781000-64782200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:64781000-64782200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:64781000-64782200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:64781000-64782200	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:64781000-64782200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:64781000-64782200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:64781000-64782200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:64781000-64782200	Active TSS	Brain Anterior Caudate	brain
27	chr11:64781000-64782200	Active TSS	Brain Hippocampus Middle	brain
28	chr11:64781000-64782200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:64781000-64782200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:64781000-64782200	Active TSS	Fetal Brain Female	brain
31	chr11:64781000-64782200	Active TSS	Fetal Intestine Small	intestine
32	chr11:64781000-64782200	Active TSS	Pancreas	Pancrea
33	chr11:64781000-64782200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr11:64781000-64782200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:64781000-64782200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:64781000-64782200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:64781000-64782200	Active TSS	Stomach Mucosa	stomach
38	chr11:64781000-64782200	Active TSS	Osteobl	bone
39	chr11:64781000-64782400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:64781000-64782400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:64781000-64782400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:64781000-64782400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:64781000-64782400	Active TSS	Brain Angular Gyrus	brain
44	chr11:64781000-64782400	Active TSS	Brain Substantia Nigra	brain
45	chr11:64781000-64782400	Active TSS	Colon Smooth Muscle	Colon
46	chr11:64781000-64782400	Active TSS	Esophagus	oesophagus
47	chr11:64781000-64782400	Active TSS	Fetal Lung	lung
48	chr11:64781000-64782400	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:64781000-64782400	Active TSS	Right Ventricle	heart
50	chr11:64781000-64782400	Active TSS	GM12878-XiMat	blood

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