Variant report

Variant	rs61884508
Chromosome Location	chr11:45864932-45864933
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	CTCF	chr11:45864660-45865055	K562	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
2	MAX	chr11:45864650-45865054	K562	blood:	n/a	n/a
3	BHLHE40	chr11:45864643-45865115	K562	blood:	n/a	n/a
4	CTCF	chr11:45864800-45864950	GM12872	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
5	CTCF	chr11:45864697-45865010	Lung_OC	lung:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
6	CTCF	chr11:45864693-45864997	A549	lung:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
7	SMC3	chr11:45864675-45865193	GM12878	blood:	n/a	chr11:45864848-45864862
8	BHLHE40	chr11:45864630-45865112	GM12878	blood:	n/a	n/a
9	YY1	chr11:45864732-45865009	GM12878	blood:	n/a	chr11:45864809-45864820
10	UBTF	chr11:45864824-45865015	K562	blood:	n/a	n/a
11	CTCF	chr11:45864820-45864970	SAEC	small airway:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
12	CTCF	chr11:45864716-45864979	MCF-7	breast:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
13	ZNF143	chr11:45864665-45865177	K562	blood:	n/a	n/a
14	CTCF	chr11:45864714-45864980	GM10248	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
15	ARID3A	chr11:45864710-45865541	HepG2	liver:	n/a	n/a
16	MXI1	chr11:45864713-45865063	K562	blood:	n/a	n/a
17	RAD21	chr11:45864660-45865086	SK-N-SH_RA	brain:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
18	CTCF	chr11:45864635-45865119	K562	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
19	ELF1	chr11:45864728-45865025	K562	blood:	n/a	n/a
20	CTCF	chr11:45864659-45865061	T-47D	breast:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
21	ZNF143	chr11:45864651-45865153	Hela-S3	cervix:	n/a	n/a
22	NFYA	chr11:45864733-45865263	Hela-S3	cervix:	n/a	chr11:45864912-45864927 chr11:45864911-45864923 chr11:45864912-45864930
23	CTCF	chr11:45864722-45864974	H1-hESC	embryonic stem cell:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
24	FOXA2	chr11:45864663-45865302	A549	lung:	n/a	n/a
25	CTCF	chr11:45864604-45864996	K562	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
26	MAX	chr11:45864525-45865105	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:45864706-45864987	NHEK	skin:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
28	CTCF	chr11:45864694-45864981	SK-N-SH_RA	brain:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
29	POLR2A	chr11:45864827-45865007	MCF10A-Er-Src	breast:	n/a	n/a
30	MXI1	chr11:45864690-45865486	HepG2	liver:	n/a	n/a
31	ELF1	chr11:45864695-45865035	HepG2	liver:	n/a	n/a
32	CTCF	chr11:45864680-45865037	SK-N-SH_RA	brain:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
33	FOXA1	chr11:45864628-45865341	HepG2	liver:	n/a	n/a
34	BCLAF1	chr11:45864642-45864999	GM12878	blood:	n/a	chr11:45864894-45864903
35	RAD21	chr11:45864702-45865076	SK-N-SH_RA	brain:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
36	CTCF	chr11:45864840-45864990	HEEpiC	esophagus:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
37	GTF2F1	chr11:45864643-45865026	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:45864800-45864950	NB4	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
39	RAD21	chr11:45864688-45865105	A549	lung:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
40	CTCF	chr11:45864712-45864980	GM19239	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
41	SP1	chr11:45864563-45865006	H1-hESC	embryonic stem cell:	n/a	chr11:45864805-45864816 chr11:45864807-45864816
42	SIN3AK20	chr11:45864473-45865335	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:45864800-45864950	HCPEpiC	choroid plexus:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
44	TCF7L2	chr11:45864731-45865191	MCF-7	breast:	n/a	chr11:45864942-45864956 chr11:45864945-45864954
45	PAX5	chr11:45864693-45864980	GM12891	blood:	n/a	chr11:45864895-45864914
46	RAD21	chr11:45864531-45865174	MCF-7	breast:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
47	HDAC2	chr11:45864661-45865055	HepG2	liver:	n/a	chr11:45865001-45865015
48	FOS	chr11:45864719-45865022	MCF10A-Er-Src	breast:	n/a	n/a
49	CTCF	chr11:45864718-45865008	Medullo	brain:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
50	CTCF	chr11:45864800-45864950	HepG2	liver:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45864900-45864950	SK-N-MC	brain:	n/a
2	chr11:45864900-45864950	NT2-D1	testis:	n/a
3	chr11:45864900-45864950	CMK	blood:	n/a
4	chr11:45864900-45864950	AG09309	skin:	n/a
5	chr11:45864900-45864950	T-47D	breast:	n/a
6	chr11:45864900-45864950	PFSK-1	brain:	n/a
7	chr11:45864900-45864950	HRCEpiC	kidney:	n/a
8	chr11:45864900-45864950	HEEpiC	esophagus:	n/a
9	chr11:45864900-45864950	SK-N-SH_RA	brain:	n/a
10	chr11:45864900-45864950	GM19239	blood:	n/a
11	chr11:45864900-45864950	IMR90	lung:	fetal
12	chr11:45864900-45864950	K562	blood:	n/a
13	chr11:45864900-45864950	RPTEC	kidney:	n/a
14	chr11:45864900-45864950	HAEpiC	amniotic membrane:	n/a
15	chr11:45864900-45864950	H1-hESC	embryonic stem cell:	embryo
16	chr11:45864900-45864950	NHDF-neo	bronchial:	n/a
17	chr11:45864900-45864950	HCPEpiC	choroid plexus:	n/a
18	chr11:45864900-45864950	SAEC	small airway:	n/a
19	chr11:45864900-45864950	A549	lung:	n/a
20	chr11:45864900-45864950	SKMC	muscle:	n/a
21	chr11:45864900-45864950	HCT-116	colon:	n/a
22	chr11:45864900-45864950	BJ	skin:	n/a
23	chr11:45864900-45864950	HL-60	blood:	n/a
24	chr11:45864900-45864950	AG04449	skin:	fetal
25	chr11:45864900-45864950	NB4	blood:	n/a
26	chr11:45864900-45864950	MCF10A-Er-Src	breast:	n/a
27	chr11:45864900-45864950	PANC-1	pancreas:	n/a
28	chr11:45864900-45864950	HMEC	breast:	n/a
29	chr11:45864900-45864950	GM12892	blood:	n/a
30	chr11:45864900-45864950	ProgFib	skin:	n/a
31	chr11:45864900-45864950	SK-N-SH	brain:	n/a
32	chr11:45864900-45864950	PrEC	prostate:	n/a
33	chr11:45864900-45864950	GM12878	blood:	n/a
34	chr11:45864900-45864950	HIPEpiC	eye:	n/a
35	chr11:45864900-45864950	HRPEpiC	eye:	n/a
36	chr11:45864900-45864950	BE2_C	brain:	n/a
37	chr11:45864900-45864950	HNPCEpiC	eye:	n/a
38	chr11:45864900-45864950	NH-A	brain:	n/a
39	chr11:45864900-45864950	ECC-1	luminal epithelium:	n/a
40	chr11:45864900-45864950	HCF	heart:	n/a
41	chr11:45864900-45864950	HUVEC	blood vessel:	n/a
42	chr11:45864900-45864950	HCM	heart:	n/a
43	chr11:45864900-45864950	HEK293	kidney:	embryo
44	chr11:45864900-45864950	HepG2	liver:	n/a
45	chr11:45864900-45864950	GM06990	blood:	n/a
46	chr11:45864900-45864950	Hela-S3	cervix:	n/a
47	chr11:45864900-45864950	HRE	kidney:	n/a
48	chr11:45864900-45864950	ovcar-3	ovarian:	n/a
49	chr11:45864900-45864950	AG04450	lung:	fetal
50	chr11:45864900-45864950	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45864486..45866793-chr11:45867171..45870088,4	K562	blood:
2	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
3	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:
4	chr11:45825112..45826973-chr11:45863249..45865849,2	MCF-7	breast:
5	chr11:45864922..45867381-chr11:46128289..46130207,2	K562	blood:
6	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
7	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
8	chr11:45850331..45852679-chr11:45862063..45866263,3	K562	blood:

Variant related genes	Relation type
CRY2	TF binding region
CRY2	CpG island
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs61882469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882474	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61882475	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61882476	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61884495	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61884502	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61884503	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61884504	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61884505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884506	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45863400-45865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:45863800-45865000	Enhancers	Liver	Liver
5	chr11:45864000-45865000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr11:45864400-45865000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:45864400-45865000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:45864600-45865000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:45864600-45865000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:45864600-45865000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:45864600-45865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:45864600-45865000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:45864600-45865000	Active TSS	Brain Anterior Caudate	brain
14	chr11:45864600-45865000	Enhancers	Colon Smooth Muscle	Colon
15	chr11:45864600-45865000	Enhancers	HepG2	liver
16	chr11:45864600-45865000	Active TSS	NHLF	lung
17	chr11:45864600-45865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:45864600-45865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:45864600-45865200	Enhancers	Brain Angular Gyrus	brain
20	chr11:45864600-45865200	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:45864600-45865200	Enhancers	Brain Germinal Matrix	brain
22	chr11:45864600-45865200	Enhancers	Brain Hippocampus Middle	brain
23	chr11:45864600-45865200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:45864600-45865200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:45864600-45865200	Enhancers	Fetal Muscle Leg	muscle
26	chr11:45864600-45865200	Enhancers	Placenta	Placenta
27	chr11:45864600-45865200	Flanking Active TSS	Dnd41	blood
28	chr11:45864600-45865200	Enhancers	HMEC	breast
29	chr11:45864600-45865400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:45864600-45865400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:45864600-45865400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:45864600-45865400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr11:45864600-45865400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:45864600-45865400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:45864600-45865600	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:45864600-45865600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:45864600-45865600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:45864600-45865600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:45864600-45865600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:45864600-45865600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:45864600-45865600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:45864600-45865600	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:45864600-45866000	Enhancers	Fetal Intestine Large	intestine
44	chr11:45864800-45865000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:45864800-45865000	Active TSS	Primary B cells from cord blood	blood
46	chr11:45864800-45865000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:45864800-45865000	Active TSS	Duodenum Mucosa	Duodenum
48	chr11:45864800-45865000	Flanking Active TSS	Fetal Heart	heart
49	chr11:45864800-45865000	Active TSS	Fetal Kidney	kidney
50	chr11:45864800-45865000	Active TSS	Hela-S3	cervix

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