Variant report

Variant	rs45620032
Chromosome Location	chr11:66619888-66619889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:66619699-66619894	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:66619641-66619895	GM13977	blood:	n/a	n/a
3	MYC	chr11:66619626-66619899	K562	blood:	n/a	n/a
4	CTCF	chr11:66619646-66619915	GM19238	blood:	n/a	n/a
5	CTCF	chr11:66619800-66619950	HMF	breast:	n/a	n/a
6	CTCF	chr11:66619631-66619909	K562	blood:	n/a	n/a
7	CTCF	chr11:66619593-66620024	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:66619760-66620050	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:66619650-66619926	GM12892	blood:	n/a	n/a
10	CTCF	chr11:66619780-66619930	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr11:66619631-66619898	GM12878	blood:	n/a	n/a
12	CTCF	chr11:66619382-66620255	HCT-116	colon:	n/a	chr11:66620161-66620169 chr11:66620158-66620176
13	CTCF	chr11:66619296-66619929	GM12878	blood:	n/a	n/a
14	CTCF	chr11:66619498-66620047	K562	blood:	n/a	n/a
15	RAD21	chr11:66619637-66619898	K562	blood:	n/a	n/a
16	CTCF	chr11:66619391-66620138	A549	lung:	n/a	n/a
17	POLR2A	chr11:66619667-66620063	HepG2	liver:	n/a	n/a
18	CTCF	chr11:66619820-66619970	SK-N-SH_RA	brain:	n/a	n/a
19	ZNF143	chr11:66619546-66619959	H1-hESC	embryonic stem cell:	n/a	chr11:66619702-66619721 chr11:66619698-66619716 chr11:66619705-66619720
20	CTCF	chr11:66619780-66619930	AG04449	skin:	n/a	n/a
21	RAD21	chr11:66619508-66619914	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:66619636-66619942	GM12891	blood:	n/a	n/a
23	CTCF	chr11:66619740-66619890	HepG2	liver:	n/a	n/a
24	RAD21	chr11:66619576-66619956	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:66619740-66619890	GM12869	blood:	n/a	n/a
26	ZNF143	chr11:66619532-66619910	K562	blood:	n/a	chr11:66619702-66619721 chr11:66619698-66619716 chr11:66619705-66619720
27	CTCF	chr11:66619780-66619930	GM12872	blood:	n/a	n/a
28	CTCF	chr11:66619740-66619890	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr11:66619633-66619941	H1-hESC	embryonic stem cell:	n/a	n/a
30	BHLHE40	chr11:66619707-66619888	K562	blood:	n/a	n/a
31	RAD21	chr11:66619248-66620024	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:66619740-66619890	GM12867	blood:	n/a	n/a
33	CTCF	chr11:66619740-66619890	GM12864	blood:	n/a	n/a
34	CTCF	chr11:66619350-66619979	K562	blood:	n/a	n/a
35	CTCF	chr11:66619606-66620026	K562	blood:	n/a	n/a
36	CTCF	chr11:66619642-66619909	GM19240	blood:	n/a	n/a
37	CTCF	chr11:66619740-66619890	GM12874	blood:	n/a	n/a
38	CTCF	chr11:66619551-66620006	K562	blood:	n/a	n/a
39	CTCF	chr11:66619579-66620000	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66619887-66619937	HNPCEpiC	eye:	n/a
2	chr11:66619887-66619937	HL-60	blood:	n/a
3	chr11:66619887-66619937	NH-A	brain:	n/a
4	chr11:66619887-66619937	HCPEpiC	choroid plexus:	n/a
5	chr11:66619887-66619937	GM12892	blood:	n/a
6	chr11:66619887-66619937	IMR90	lung:	fetal
7	chr11:66619887-66619937	HIPEpiC	eye:	n/a
8	chr11:66619887-66619937	SAEC	small airway:	n/a
9	chr11:66619887-66619937	GM19239	blood:	n/a
10	chr11:66619887-66619937	HUVEC	blood vessel:	n/a
11	chr11:66619887-66619937	Hela-S3	cervix:	n/a
12	chr11:66619887-66619937	NHDF-neo	bronchial:	n/a
13	chr11:66619887-66619937	Caco-2	colon:	n/a
14	chr11:66619887-66619937	HCM	heart:	n/a
15	chr11:66619887-66619937	HepG2	liver:	n/a
16	chr11:66619887-66619937	A549	lung:	n/a
17	chr11:66619887-66619937	MCF-7	breast:	n/a
18	chr11:66619887-66619937	AoSMC	blood vessel:	n/a
19	chr11:66619887-66619937	NB4	blood:	n/a
20	chr11:66619887-66619937	NT2-D1	testis:	n/a
21	chr11:66619887-66619937	K562	blood:	n/a
22	chr11:66619887-66619937	AG04449	skin:	fetal
23	chr11:66619887-66619937	HRCEpiC	kidney:	n/a
24	chr11:66619887-66619937	MCF10A-Er-Src	breast:	n/a
25	chr11:66619887-66619937	LNCaP	prostate:	n/a
26	chr11:66619887-66619937	H1-hESC	embryonic stem cell:	embryo
27	chr11:66619887-66619937	PFSK-1	brain:	n/a
28	chr11:66619887-66619937	HCF	heart:	n/a
29	chr11:66619887-66619937	Jurkat	blood:	n/a
30	chr11:66619887-66619937	HCT-116	colon:	n/a
31	chr11:66619887-66619937	SK-N-SH	brain:	n/a
32	chr11:66619887-66619937	AG10803	skin:	n/a
33	chr11:66619887-66619937	ProgFib	skin:	n/a
34	chr11:66619887-66619937	ECC-1	luminal epithelium:	n/a
35	chr11:66619887-66619937	AG09309	skin:	n/a
36	chr11:66619887-66619937	AG09319	gingival:	n/a
37	chr11:66619887-66619937	ovcar-3	ovarian:	n/a
38	chr11:66619887-66619937	SK-N-SH_RA	brain:	n/a
39	chr11:66619887-66619937	U87	brain:	n/a
40	chr11:66619887-66619937	T-47D	breast:	n/a
41	chr11:66619887-66619937	SKMC	muscle:	n/a
42	chr11:66619887-66619937	SK-N-MC	brain:	n/a
43	chr11:66619887-66619937	GM12878	blood:	n/a
44	chr11:66619887-66619937	BJ	skin:	n/a
45	chr11:66619887-66619937	RPTEC	kidney:	n/a
46	chr11:66619887-66619937	Hepatocyte	liver:	n/a
47	chr11:66619887-66619937	GM06990	blood:	n/a
48	chr11:66619887-66619937	HEEpiC	esophagus:	n/a
49	chr11:66619887-66619937	CMK	blood:	n/a
50	chr11:66619887-66619937	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66619709..66620228-chr11:66636261..66636823,2	MCF-7	breast:
2	chr11:66619627..66620428-chr11:66743030..66743951,3	MCF-7	breast:

No data

Variant related genes	Relation type
PC	TF binding region
LRFN4	TF binding region
LRFN4	CpG island
PC	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227537	1.00[AMR][1000 genomes]
rs2513660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947941	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66612000-66623000	Weak transcription	Psoas Muscle	Psoas
2	chr11:66612000-66623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66612000-66623200	Weak transcription	Right Atrium	heart
4	chr11:66612200-66623000	Weak transcription	Fetal Kidney	kidney
5	chr11:66612200-66623000	Weak transcription	Stomach Mucosa	stomach
6	chr11:66612200-66623000	Weak transcription	HSMM	muscle
7	chr11:66612200-66623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:66612200-66623200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:66612400-66623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:66612400-66623200	Weak transcription	NH-A	brain
11	chr11:66612600-66620000	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:66612600-66620200	Strong transcription	Fetal Intestine Small	intestine
13	chr11:66612600-66620400	Strong transcription	Brain Anterior Caudate	brain
14	chr11:66612600-66620800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:66612800-66620000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:66612800-66620200	Strong transcription	Brain Hippocampus Middle	brain
17	chr11:66612800-66620200	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:66612800-66620400	Strong transcription	Gastric	stomach
19	chr11:66612800-66620600	Strong transcription	Brain Cingulate Gyrus	brain
20	chr11:66612800-66620800	Strong transcription	Liver	Liver
21	chr11:66612800-66623200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:66613000-66620400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:66613000-66620400	Strong transcription	Fetal Brain Female	brain
24	chr11:66613200-66620200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:66613200-66622400	Weak transcription	Fetal Brain Male	brain
26	chr11:66613400-66620400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:66613400-66623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:66613800-66620600	Strong transcription	Fetal Stomach	stomach
29	chr11:66614200-66620200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66614200-66622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:66614400-66623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:66614400-66623000	Weak transcription	Osteobl	bone
33	chr11:66614600-66622800	Weak transcription	Fetal Lung	lung
34	chr11:66614600-66623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:66614600-66623000	Weak transcription	HUVEC	blood vessel
36	chr11:66614800-66622000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:66615200-66620000	Strong transcription	A549	lung
38	chr11:66615200-66622000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:66615200-66623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:66615400-66623000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:66615400-66623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:66615400-66623000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:66615600-66621800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:66615600-66622800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:66615600-66623000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:66615600-66623200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:66615800-66622400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:66615800-66622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:66615800-66622800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:66615800-66622800	Weak transcription	Left Ventricle	heart

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