Variant report

Variant	rs6591868
Chromosome Location	chr11:64780912-64780913
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	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
2	POLR2A	chr11:64780882-64782355	K562	blood:	n/a	n/a
3	TBP	chr11:64780854-64781822	GM12878	blood:	n/a	n/a
4	FOXA2	chr11:64780669-64781075	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:64780662-64782497	K562	blood:	n/a	n/a
6	FOXM1	chr11:64780872-64782031	GM12878	blood:	n/a	n/a
7	MAZ	chr11:64780888-64782261	GM12878	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
8	SIN3AK20	chr11:64780762-64781410	A549	lung:	n/a	n/a
9	SIN3AK20	chr11:64780727-64782536	MCF-7	breast:	n/a	n/a
10	CBX3	chr11:64780768-64782686	K562	blood:	n/a	n/a
11	POLR2A	chr11:64780844-64782318	GM19099	blood:	n/a	n/a
12	PAX5	chr11:64780902-64781638	GM12878	blood:	n/a	n/a
13	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
14	POLR2A	chr11:64780828-64782667	PFSK-1	brain:	n/a	n/a
15	E2F6	chr11:64780882-64782430	A549	lung:	n/a	chr11:64782105-64782115 chr11:64781471-64781481 chr11:64781576-64781585
16	RFX5	chr11:64780888-64782207	Hela-S3	cervix:	n/a	n/a
17	MYC	chr11:64780889-64782427	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
18	RAD21	chr11:64780821-64782021	HepG2	liver:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
19	MAX	chr11:64780844-64782542	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
20	EGR1	chr11:64780907-64782419	K562	blood:	n/a	chr11:64781065-64781075 chr11:64781062-64781075
21	POLR2A	chr11:64780865-64782391	HUVEC	blood vessel:	n/a	n/a
22	MAX	chr11:64780900-64782359	SK-N-SH	brain:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
23	RAD21	chr11:64780819-64782331	HCT-116	colon:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153 chr11:64782061-64782073 chr11:64782027-64782041
24	IRF1	chr11:64780864-64781894	K562	blood:	n/a	n/a
25	CTCF	chr11:64780907-64782043	T-47D	breast:	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
26	POU2F2	chr11:64780908-64782021	GM12878	blood:	n/a	n/a
27	USF1	chr11:64780872-64781978	K562	blood:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
28	YY1	chr11:64780876-64781974	H1-hESC	embryonic stem cell:	n/a	chr11:64781921-64781932
29	SPI1	chr11:64780835-64781266	HL-60	blood:	n/a	n/a
30	POLR2A	chr11:64780667-64782568	HUVEC	blood vessel:	n/a	n/a
31	RCOR1	chr11:64780842-64782588	K562	blood:	n/a	n/a
32	CTCF	chr11:64780811-64782191	K562	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
33	MAX	chr11:64780519-64782556	HepG2	liver:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
34	RAD21	chr11:64780885-64781984	GM12878	blood:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
35	E2F4	chr11:64780823-64782367	K562	blood:	n/a	chr11:64782105-64782115 chr11:64781471-64781481 chr11:64781576-64781585
36	CUX1	chr11:64780904-64781468	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:64780675-64782875	HepG2	liver:	n/a	n/a
38	MYC	chr11:64780883-64782392	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
39	MXI1	chr11:64780880-64782243	HepG2	liver:	n/a	n/a
40	RAD21	chr11:64780729-64782346	HCT-116	colon:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153 chr11:64782061-64782073 chr11:64782027-64782041
41	SPI1	chr11:64780883-64781157	K562	blood:	n/a	n/a
42	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
43	RCOR1	chr11:64780869-64782515	K562	blood:	n/a	n/a
44	ELF1	chr11:64780860-64781836	MCF-7	breast:	n/a	chr11:64781796-64781808
45	CTCF	chr11:64780817-64782165	K562	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
46	MAX	chr11:64780912-64782410	H1-hESC	embryonic stem cell:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
47	POLR2A	chr11:64780900-64782333	GM15510	blood:	n/a	n/a
48	POLR2A	chr11:64780888-64782332	NB4	blood:	n/a	n/a
49	CREB1	chr11:64780712-64782504	HepG2	liver:	n/a	n/a
50	RAD21	chr11:64780889-64781299	SK-N-SH_RA	brain:	n/a	chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64780896-64780946	ProgFib	skin:	n/a
2	chr11:64780896-64780946	HRCEpiC	kidney:	n/a
3	chr11:64780896-64780946	HAEpiC	amniotic membrane:	n/a
4	chr11:64780896-64780946	AG09319	gingival:	n/a
5	chr11:64780896-64780946	LNCaP	prostate:	n/a
6	chr11:64780896-64780946	HUVEC	blood vessel:	n/a
7	chr11:64780896-64780946	SAEC	small airway:	n/a
8	chr11:64780896-64780946	HNPCEpiC	eye:	n/a
9	chr11:64780896-64780946	HMEC	breast:	n/a
10	chr11:64780896-64780946	HEK293	kidney:	embryo
11	chr11:64780896-64780946	HCF	heart:	n/a
12	chr11:64780896-64780946	GM12892	blood:	n/a
13	chr11:64780896-64780946	AG04450	lung:	fetal
14	chr11:64780896-64780946	SK-N-SH_RA	brain:	n/a
15	chr11:64780896-64780946	Jurkat	blood:	n/a
16	chr11:64780896-64780946	Caco-2	colon:	n/a
17	chr11:64780896-64780946	H1-hESC	embryonic stem cell:	embryo
18	chr11:64780896-64780946	AG09309	skin:	n/a
19	chr11:64780896-64780946	AG04449	skin:	fetal
20	chr11:64780896-64780946	HEEpiC	esophagus:	n/a
21	chr11:64780896-64780946	ovcar-3	ovarian:	n/a
22	chr11:64780896-64780946	BJ	skin:	n/a
23	chr11:64780896-64780946	ECC-1	luminal epithelium:	n/a
24	chr11:64780896-64780946	PFSK-1	brain:	n/a
25	chr11:64780896-64780946	GM12891	blood:	n/a
26	chr11:64780896-64780946	RPTEC	kidney:	n/a
27	chr11:64780896-64780946	U87	brain:	n/a
28	chr11:64780896-64780946	SK-N-SH	brain:	n/a
29	chr11:64780896-64780946	SK-N-MC	brain:	n/a
30	chr11:64780896-64780946	HCPEpiC	choroid plexus:	n/a
31	chr11:64780896-64780946	MCF-7	breast:	n/a
32	chr11:64780896-64780946	BE2_C	brain:	n/a
33	chr11:64780896-64780946	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:64780896-64780946	HepG2	liver:	n/a
35	chr11:64780896-64780946	GM12878	blood:	n/a
36	chr11:64780896-64780946	AoSMC	blood vessel:	n/a
37	chr11:64780896-64780946	Hela-S3	cervix:	n/a
38	chr11:64780896-64780946	NHBE	bronchial:	n/a
39	chr11:64780896-64780946	MCF10A-Er-Src	breast:	n/a
40	chr11:64780896-64780946	AG10803	skin:	n/a
41	chr11:64780896-64780946	GM19239	blood:	n/a
42	chr11:64780896-64780946	T-47D	breast:	n/a
43	chr11:64780896-64780946	K562	blood:	n/a
44	chr11:64780896-64780946	GM06990	blood:	n/a
45	chr11:64780896-64780946	PrEC	prostate:	n/a
46	chr11:64780896-64780946	HRPEpiC	eye:	n/a
47	chr11:64780896-64780946	CMK	blood:	n/a
48	chr11:64780896-64780946	Hepatocyte	liver:	n/a
49	chr11:64780896-64780946	NH-A	brain:	n/a
50	chr11:64780896-64780946	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
3	chr11:64780551..64781718-chr11:64879936..64880686,4	K562	blood:
4	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
5	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
6	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
7	chr11:64780520..64784503-chr11:64834796..64838390,5	MCF-7	breast:
8	chr11:64780460..64784208-chr11:64862018..64864261,3	K562	blood:
9	chr11:64660891..64664747-chr11:64780644..64783500,5	K562	blood:
10	chr11:64739428..64743212-chr11:64780553..64782608,3	K562	blood:
11	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
12	chr11:64663470..64664241-chr11:64780763..64781434,2	K562	blood:
13	chr11:64779929..64781451-chr11:64813261..64815030,2	MCF-7	breast:
14	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
15	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
16	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
17	chr11:64778554..64781420-chr11:64816043..64818523,2	MCF-7	breast:
18	chr11:64663247..64665501-chr11:64780433..64782538,2	K562	blood:
19	chr11:64780075..64781062-chr17:58603335..58603844,2	MCF-7	breast:
20	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:
21	chr11:64780674..64781293-chr11:64845300..64846312,4	K562	blood:
22	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
23	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
24	chr11:64779557..64781251-chr11:65271267..65273112,2	K562	blood:
25	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
26	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
27	chr11:64780038..64784183-chr11:64845056..64847666,6	K562	blood:
28	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
29	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
30	chr11:64691687..64693802-chr11:64779659..64781433,2	K562	blood:
31	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
32	chr11:64780781..64781742-chr11:64884944..64885528,2	K562	blood:
33	chr11:64779662..64781456-chr11:64806960..64809857,2	K562	blood:
34	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
35	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
36	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
37	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
38	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
39	chr11:64780841..64783611-chr11:64936959..64938535,2	K562	blood:
40	chr11:64766736..64768997-chr11:64779317..64781330,2	K562	blood:
41	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
42	chr11:64780648..64781149-chr11:64828725..64829287,2	MCF-7	breast:
43	chr11:64660429..64663235-chr11:64780866..64783681,3	MCF-7	breast:

Variant related genes	Relation type
ARL2	TF binding region
ENSG00000273003	TF binding region
ENSG00000273003	CpG island
ARL2	CpG island
ENSG00000149809	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000266123	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000149823	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11231892	1.00[MEX][hapmap]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
2	chr11:64775600-64781000	Weak transcription	Esophagus	oesophagus
3	chr11:64779600-64781000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:64780200-64781000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:64780400-64781000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64780400-64781000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64780400-64781000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:64780400-64781000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:64780400-64781000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:64780400-64781000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:64780400-64781000	Enhancers	Placenta	Placenta
12	chr11:64780400-64781000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:64780400-64781000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:64780400-64781000	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr11:64780400-64781000	Enhancers	Right Ventricle	heart
16	chr11:64780400-64781000	Flanking Active TSS	GM12878-XiMat	blood
17	chr11:64780400-64781200	Flanking Active TSS	Dnd41	blood
18	chr11:64780400-64781400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:64780400-64781600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:64780400-64782200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:64780600-64781000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:64780600-64781000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:64780600-64781000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:64780600-64781000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:64780600-64781000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:64780600-64781000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:64780600-64781000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:64780600-64781000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:64780600-64781000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:64780600-64781000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:64780600-64781000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:64780600-64781000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:64780600-64781000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:64780600-64781000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr11:64780600-64781000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:64780600-64781000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:64780600-64781000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:64780600-64781000	Enhancers	Fetal Brain Female	brain
39	chr11:64780600-64781000	Flanking Active TSS	Fetal Kidney	kidney
40	chr11:64780600-64781000	Flanking Active TSS	Fetal Lung	lung
41	chr11:64780600-64781000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr11:64780600-64781000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:64780600-64781000	Enhancers	Small Intestine	intestine
44	chr11:64780600-64781000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:64780600-64781000	Flanking Active TSS	A549	lung
46	chr11:64780600-64781000	Flanking Active TSS	Hela-S3	cervix
47	chr11:64780600-64781000	Flanking Active TSS	HepG2	liver
48	chr11:64780600-64781000	Flanking Active TSS	HMEC	breast
49	chr11:64780600-64781000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr11:64780600-64781000	Flanking Active TSS	NHLF	lung

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