Variant report

Variant	rs11605583
Chromosome Location	chr11:64808432-64808433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:61)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr11:64808063-64808752	HepG2	liver:	n/a	n/a
2	BRCA1	chr11:64808233-64808570	Hela-S3	cervix:	n/a	n/a
3	YY1	chr11:64808214-64808716	HCT-116	colon:	n/a	n/a
4	NFATC1	chr11:64808350-64808639	GM12878	blood:	n/a	n/a
5	JUND	chr11:64808155-64808636	K562	blood:	n/a	chr11:64808360-64808369 chr11:64808355-64808364
6	FOXA2	chr11:64808312-64808561	HepG2	liver:	n/a	n/a
7	RAD21	chr11:64808312-64808664	ECC-1	luminal epithelium:	n/a	n/a
8	KAP1	chr11:64808163-64808572	U2OS	brain:	n/a	chr11:64808269-64808277
9	MAZ	chr11:64808183-64809103	K562	blood:	n/a	n/a
10	SIN3AK20	chr11:64808229-64809171	SK-N-SH	brain:	n/a	n/a
11	HEY1	chr11:64808132-64809185	K562	blood:	n/a	chr11:64808353-64808368
12	TBL1XR1	chr11:64808087-64808617	K562	blood:	n/a	n/a
13	MAX	chr11:64808156-64809344	A549	lung:	n/a	n/a
14	SP1	chr11:64807998-64808822	A549	lung:	n/a	chr11:64808358-64808367 chr11:64808353-64808367 chr11:64808357-64808369 chr11:64808354-64808363 chr11:64808358-64808367 chr11:64808357-64808369 chr11:64808352-64808364 chr11:64808353-64808362 chr11:64808352-64808364 chr11:64808359-64808368 chr11:64808363-64808372 chr11:64808353-64808362 chr11:64808352-64808363
15	POLR2A	chr11:64808096-64809217	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:64808420-64808570	Caco-2	colon:	n/a	n/a
17	GTF2F1	chr11:64808167-64808578	K562	blood:	n/a	n/a
18	POLR2A	chr11:64808125-64808887	K562	blood:	n/a	n/a
19	HNF4G	chr11:64808317-64808676	HepG2	liver:	n/a	chr11:64808319-64808327
20	NFYB	chr11:64808235-64808638	K562	blood:	n/a	n/a
21	ELF1	chr11:64808203-64809405	GM12878	blood:	n/a	n/a
22	TCF12	chr11:64807980-64809161	A549	lung:	n/a	n/a
23	MYC	chr11:64808332-64809170	HepG2	liver:	n/a	n/a
24	TAF1	chr11:64808143-64809271	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr11:64808287-64808813	GM12878	blood:	n/a	n/a
26	SRF	chr11:64808235-64808678	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr11:64808073-64809620	A549	lung:	n/a	n/a
28	POLR2A	chr11:64808192-64809151	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:64808176-64809149	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:64808061-64809322	Hela-S3	cervix:	n/a	n/a
31	MAFK	chr11:64808208-64808610	Hela-S3	cervix:	n/a	n/a
32	CCNT2	chr11:64808170-64809287	K562	blood:	n/a	n/a
33	POLR2A	chr11:64808075-64809041	K562	blood:	n/a	n/a
34	POLR2A	chr11:64807966-64809040	U87	brain:	n/a	n/a
35	HDAC2	chr11:64808280-64808538	K562	blood:	n/a	n/a
36	TAF7	chr11:64808289-64808996	H1-hESC	embryonic stem cell:	n/a	n/a
37	RXRA	chr11:64808287-64808664	HepG2	liver:	n/a	n/a
38	MAX	chr11:64808252-64809233	GM12878	blood:	n/a	n/a
39	RXRA	chr11:64808212-64808680	GM12878	blood:	n/a	n/a
40	YY1	chr11:64808215-64808870	SK-N-SH_RA	brain:	n/a	n/a
41	STAT5A	chr11:64808229-64808601	GM12878	blood:	n/a	chr11:64808354-64808366 chr11:64808349-64808361
42	TAF1	chr11:64808064-64809084	ECC-1	luminal epithelium:	n/a	n/a
43	BCLAF1	chr11:64808137-64808632	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:64808157-64809279	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr11:64808195-64809464	PANC-1	pancreas:	n/a	n/a
46	EGR1	chr11:64808288-64808826	K562	blood:	n/a	n/a
47	ZNF263	chr11:64808074-64809275	HEK293-T-REx	kidney:	n/a	n/a
48	MYC	chr11:64808077-64809315	K562	blood:	n/a	n/a
49	MAFK	chr11:64808275-64808581	K562	blood:	n/a	n/a
50	ELK1	chr11:64808419-64808494	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64808428-64808478	HCM	heart:	n/a
2	chr11:64808428-64808478	PrEC	prostate:	n/a
3	chr11:64808428-64808478	AoSMC	blood vessel:	n/a
4	chr11:64808428-64808478	ProgFib	skin:	n/a
5	chr11:64808428-64808478	LNCaP	prostate:	n/a
6	chr11:64808428-64808478	U87	brain:	n/a
7	chr11:64808428-64808478	GM12878	blood:	n/a
8	chr11:64808428-64808478	AG04449	skin:	fetal
9	chr11:64808428-64808478	HCPEpiC	choroid plexus:	n/a
10	chr11:64808428-64808478	GM19239	blood:	n/a
11	chr11:64808428-64808478	H1-hESC	embryonic stem cell:	embryo
12	chr11:64808428-64808478	ovcar-3	ovarian:	n/a
13	chr11:64808428-64808478	BE2_C	brain:	n/a
14	chr11:64808428-64808478	T-47D	breast:	n/a
15	chr11:64808428-64808478	PFSK-1	brain:	n/a
16	chr11:64808428-64808478	GM12892	blood:	n/a
17	chr11:64808428-64808478	SKMC	muscle:	n/a
18	chr11:64808428-64808478	HRE	kidney:	n/a
19	chr11:64808428-64808478	A549	lung:	n/a
20	chr11:64808428-64808478	GM06990	blood:	n/a
21	chr11:64808428-64808478	IMR90	lung:	fetal
22	chr11:64808428-64808478	HRPEpiC	eye:	n/a
23	chr11:64808428-64808478	AG09309	skin:	n/a
24	chr11:64808428-64808478	PANC-1	pancreas:	n/a
25	chr11:64808428-64808478	SAEC	small airway:	n/a
26	chr11:64808428-64808478	AG04450	lung:	fetal
27	chr11:64808428-64808478	Jurkat	blood:	n/a
28	chr11:64808428-64808478	HEK293	kidney:	embryo
29	chr11:64808428-64808478	MCF-7	breast:	n/a
30	chr11:64808428-64808478	SK-N-MC	brain:	n/a
31	chr11:64808428-64808478	HAEpiC	amniotic membrane:	n/a
32	chr11:64808428-64808478	HEEpiC	esophagus:	n/a
33	chr11:64808428-64808478	HUVEC	blood vessel:	n/a
34	chr11:64808428-64808478	Hela-S3	cervix:	n/a
35	chr11:64808428-64808478	HMEC	breast:	n/a
36	chr11:64808428-64808478	NB4	blood:	n/a
37	chr11:64808428-64808478	SK-N-SH	brain:	n/a
38	chr11:64808428-64808478	K562	blood:	n/a
39	chr11:64808428-64808478	Caco-2	colon:	n/a
40	chr11:64808428-64808478	NH-A	brain:	n/a
41	chr11:64808428-64808478	HepG2	liver:	n/a
42	chr11:64808428-64808478	AG09319	gingival:	n/a
43	chr11:64808428-64808478	HCF	heart:	n/a
44	chr11:64808428-64808478	HIPEpiC	eye:	n/a
45	chr11:64808428-64808478	NHBE	bronchial:	n/a
46	chr11:64808428-64808478	SK-N-SH_RA	brain:	n/a
47	chr11:64808428-64808478	CMK	blood:	n/a
48	chr11:64808428-64808478	HL-60	blood:	n/a
49	chr11:64808428-64808478	HRCEpiC	kidney:	n/a
50	chr11:64808428-64808478	NT2-D1	testis:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64806669..64810557-chr11:64862016..64868359,8	K562	blood:
2	chr11:64793282..64795774-chr11:64807101..64811680,5	K562	blood:
3	chr11:64793697..64796700-chr11:64806482..64812345,9	MCF-7	breast:
4	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
5	chr11:64787088..64789367-chr11:64807052..64810027,2	MCF-7	breast:
6	chr11:64807090..64809871-chr11:64850334..64853304,4	MCF-7	breast:
7	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
8	chr11:64545248..64547245-chr11:64807000..64808581,2	MCF-7	breast:
9	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
10	chr11:64644663..64647408-chr11:64807363..64809566,4	MCF-7	breast:
11	chr11:64806537..64808623-chr11:64852176..64854982,2	K562	blood:
12	chr11:64645854..64647856-chr11:64806233..64808621,2	K562	blood:
13	chr11:64807534..64810713-chr11:64846257..64849828,3	MCF-7	breast:
14	chr11:64806772..64810496-chr11:64862454..64866792,5	K562	blood:
15	chr11:64807959..64809979-chr11:64878035..64880846,2	K562	blood:
16	chr11:64808323..64810154-chr11:64871056..64873673,2	MCF-7	breast:
17	chr11:64806463..64808805-chr11:64815100..64817067,2	K562	blood:
18	chr11:64806835..64808889-chr11:64875130..64876967,2	K562	blood:
19	chr11:64806821..64808860-chr11:64936413..64939146,2	K562	blood:
20	chr11:64793793..64795353-chr11:64806843..64809654,4	MCF-7	breast:
21	chr11:64807684..64812709-chr11:64850593..64853492,4	MCF-7	breast:
22	chr11:64807810..64812277-chr11:64813364..64817609,8	MCF-7	breast:
23	chr11:64793389..64797015-chr11:64806765..64809007,6	K562	blood:
24	chr11:64805658..64811611-chr11:64862545..64865451,9	MCF-7	breast:
25	chr11:64692132..64694352-chr11:64806387..64808974,2	K562	blood:
26	chr11:64804480..64810811-chr11:64850224..64856247,12	K562	blood:
27	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
28	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
29	chr11:64807098..64808802-chr11:64850233..64851800,2	K562	blood:
30	chr11:64806644..64812839-chr11:64862132..64865938,9	MCF-7	breast:
31	chr11:64682450..64685608-chr11:64808232..64811277,3	MCF-7	breast:
32	chr11:64807549..64809979-chr11:64878035..64880006,2	K562	blood:

No data

Variant related genes	Relation type
SAC3D1	TF binding region
SAC3D1	CpG island
ENSG00000255173	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000266123	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000254614	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10792456	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604099	1.00[EUR][1000 genomes]
rs2458297	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251366	1.00[EUR][1000 genomes]
rs35982635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3915452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608404	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769442	1.00[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	esv3324692	chr11:64806676-64811174	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 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	chr11:64807600-64808800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:64807600-64809400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:64807600-64809400	Active TSS	Brain Anterior Caudate	brain
4	chr11:64807800-64808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:64807800-64809600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr11:64807800-64809800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:64807800-64810000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:64807800-64810000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:64807800-64810400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:64807800-64810600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:64808000-64808600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:64808000-64808600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:64808000-64808600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:64808000-64809000	Active TSS	Colonic Mucosa	Colon
15	chr11:64808000-64809000	Active TSS	Esophagus	oesophagus
16	chr11:64808000-64809000	Active TSS	Right Ventricle	heart
17	chr11:64808000-64809200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:64808000-64809200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:64808000-64809200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:64808000-64809200	Active TSS	Duodenum Mucosa	Duodenum
21	chr11:64808000-64809200	Active TSS	Pancreas	Pancrea
22	chr11:64808000-64809200	Active TSS	Psoas Muscle	Psoas
23	chr11:64808000-64809400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:64808000-64809400	Weak transcription	Fetal Heart	heart
25	chr11:64808000-64809400	Active TSS	Fetal Stomach	stomach
26	chr11:64808000-64809400	Active TSS	Left Ventricle	heart
27	chr11:64808000-64809600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:64808000-64809600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:64808000-64809600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:64808000-64809600	Active TSS	Brain Cingulate Gyrus	brain
31	chr11:64808000-64809600	Active TSS	Fetal Kidney	kidney
32	chr11:64808000-64809600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:64808000-64809600	Active TSS	Ovary	ovary
34	chr11:64808000-64809600	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:64808000-64809800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:64808000-64809800	Active TSS	Fetal Brain Female	brain
37	chr11:64808000-64809800	Active TSS	A549	lung
38	chr11:64808000-64809800	Active TSS	NHDF-Ad	bronchial
39	chr11:64808000-64810000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:64808000-64810000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:64808000-64810000	Active TSS	HepG2	liver
42	chr11:64808000-64810200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:64808000-64810200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:64808000-64810200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:64808000-64810200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr11:64808000-64810200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:64808000-64810200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:64808000-64810800	Active TSS	NHLF	lung
49	chr11:64808200-64808800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:64808200-64809000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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