Variant report

Variant	rs73492280
Chromosome Location	chr11:63605016-63605017
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	CTCF	chr11:63604649-63605094	HepG2	liver:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
2	MXI1	chr11:63604708-63605084	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:63604666-63605056	K562	blood:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
4	SMC3	chr11:63604659-63605127	HepG2	liver:	n/a	chr11:63604871-63604885 chr11:63604871-63604878
5	STAT5A	chr11:63604571-63605363	GM12878	blood:	n/a	chr11:63604681-63604693 chr11:63604675-63604687
6	NRF1	chr11:63604798-63605103	GM12878	blood:	n/a	n/a
7	CTCF	chr11:63604645-63605029	T-47D	breast:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
8	PML	chr11:63604454-63605223	GM12878	blood:	n/a	n/a
9	STAT1	chr11:63604796-63605101	GM12878	blood:	n/a	n/a
10	RFX5	chr11:63604713-63605023	Hela-S3	cervix:	n/a	n/a
11	GTF2F1	chr11:63604735-63605041	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:63604592-63605244	ECC-1	luminal epithelium:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
13	IRF3	chr11:63604846-63605047	GM12878	blood:	n/a	n/a
14	RCOR1	chr11:63604785-63605111	K562	blood:	n/a	n/a
15	CTCF	chr11:63604327-63605388	A549	lung:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
16	SIN3A	chr11:63604508-63605060	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:63604677-63605066	K562	blood:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
18	RAD21	chr11:63604448-63605539	SK-N-SH	brain:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
19	MAX	chr11:63604708-63605374	NB4	blood:	n/a	n/a
20	RCOR1	chr11:63604618-63605020	HepG2	liver:	n/a	n/a
21	RAD21	chr11:63604719-63605062	GM12878	blood:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
22	CTCF	chr11:63604604-63605084	T-47D	breast:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
23	USF2	chr11:63604691-63605040	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr11:63604724-63605049	Hela-S3	cervix:	n/a	n/a
25	FOXM1	chr11:63604638-63605056	GM12878	blood:	n/a	chr11:63604722-63604730
26	RAD21	chr11:63604652-63605120	GM12878	blood:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
27	MAX	chr11:63604811-63605047	K562	blood:	n/a	n/a
28	RAD21	chr11:63604691-63605078	A549	lung:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
29	SMC3	chr11:63604597-63605094	K562	blood:	n/a	chr11:63604871-63604885 chr11:63604871-63604878
30	MXI1	chr11:63604749-63605035	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr11:63604754-63605026	K562	blood:	n/a	n/a
32	CTCF	chr11:63604720-63605024	MCF-7	breast:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
33	CTCF	chr11:63604636-63605090	H1-hESC	embryonic stem cell:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
34	RAD21	chr11:63604663-63605098	HepG2	liver:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
35	CTCF	chr11:63604663-63605125	K562	blood:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
36	RAD21	chr11:63604690-63605058	K562	blood:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
37	CTCF	chr11:63604616-63605097	MCF-7	breast:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
38	MYC	chr11:63604826-63605028	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr11:63604536-63605251	MCF-7	breast:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
40	WRNIP1	chr11:63604669-63605203	GM12878	blood:	n/a	n/a
41	GTF2F1	chr11:63604961-63605132	K562	blood:	n/a	n/a
42	ZNF143	chr11:63604698-63605060	K562	blood:	n/a	n/a
43	CTCF	chr11:63604716-63605018	HepG2	liver:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
44	BCL3	chr11:63604551-63605121	A549	lung:	n/a	chr11:63604629-63604638
45	RAD21	chr11:63604466-63605367	A549	lung:	n/a	chr11:63604871-63604885 chr11:63604870-63604889 chr11:63604874-63604883 chr11:63604873-63604886 chr11:63604875-63604885
46	CTCF	chr11:63604636-63605195	K562	blood:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
47	CTCF	chr11:63604766-63605035	A549	lung:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
48	CTCF	chr11:63604715-63605030	Spleen_OC	spleen:	n/a	chr11:63604874-63604884 chr11:63604872-63604885 chr11:63604870-63604886 chr11:63604871-63604892 chr11:63604869-63604887 chr11:63604872-63604881
49	ATF2	chr11:63604611-63605114	H1-hESC	embryonic stem cell:	n/a	n/a
50	SMC3	chr11:63604295-63605561	SK-N-SH	brain:	n/a	chr11:63604871-63604885 chr11:63605297-63605307 chr11:63604871-63604878

No.	Distal block	Cell Line	Cell type
1	chr11:63604396..63605449-chr11:63668816..63670209,9	MCF-7	breast:
2	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
3	chr11:63595369..63597909-chr11:63603609..63605330,2	MCF-7	breast:
4	chr11:63535378..63537033-chr11:63604393..63605415,6	MCF-7	breast:
5	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
6	chr11:63603650..63606270-chr11:63705616..63707256,2	MCF-7	breast:
7	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
8	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
9	chr11:63598165..63599939-chr11:63604514..63606107,2	MCF-7	breast:
10	chr11:63597538..63602989-chr11:63603448..63608044,6	K562	blood:
11	chr11:63604037..63605385-chr11:63668805..63669828,8	MCF-7	breast:
12	chr11:63604465..63605390-chr11:63673837..63675145,8	MCF-7	breast:
13	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
14	chr11:63535587..63536320-chr11:63604648..63605301,2	MCF-7	breast:
15	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
16	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
17	chr11:63604931..63605437-chr11:63712924..63713689,2	MCF-7	breast:
18	chr11:63595860..63598960-chr11:63603079..63605132,3	MCF-7	breast:
19	chr11:63603645..63605153-chr11:63705944..63708736,2	K562	blood:
20	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
21	chr11:63604628..63605373-chr11:63655293..63655881,2	K562	blood:
22	chr11:63604419..63605581-chr11:63639188..63640136,5	K562	blood:
23	chr11:63604047..63606273-chr11:63618299..63619902,2	K562	blood:
24	chr11:63604695..63605339-chr11:63920239..63921053,3	K562	blood:
25	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
26	chr11:63604405..63605358-chr11:63712971..63713992,6	K562	blood:
27	chr11:63604847..63605359-chr11:63915839..63916701,2	K562	blood:
28	chr11:63601754..63603503-chr11:63603668..63606270,2	K562	blood:
29	chr11:63604248..63606622-chr11:63634947..63637040,3	K562	blood:
30	chr11:63582150..63582705-chr11:63604619..63605149,2	MCF-7	breast:
31	chr11:63604437..63605387-chr11:63701185..63702224,4	MCF-7	breast:
32	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
33	chr11:63604403..63605521-chr11:63639170..63640537,5	MCF-7	breast:
34	chr11:63604392..63605337-chr11:63683573..63684540,2	K562	blood:
35	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000256280	TF binding region
ENSG00000072518	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59337858	0.89[AFR][1000 genomes]
rs73492282	0.89[AFR][1000 genomes]
rs9943478	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63590800-63605200	Weak transcription	Small Intestine	intestine
2	chr11:63593000-63605200	Weak transcription	NHDF-Ad	bronchial
3	chr11:63593000-63606400	Weak transcription	Aorta	Aorta
4	chr11:63594000-63605600	Weak transcription	HSMMtube	muscle
5	chr11:63594200-63605200	Weak transcription	NH-A	brain
6	chr11:63594200-63605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:63594400-63605400	Weak transcription	HSMM	muscle
8	chr11:63594400-63605400	Weak transcription	Osteobl	bone
9	chr11:63594600-63606400	Weak transcription	Ovary	ovary
10	chr11:63595400-63605200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:63595400-63605200	Weak transcription	Left Ventricle	heart
12	chr11:63595400-63605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:63595600-63605400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:63596000-63605200	Weak transcription	Right Ventricle	heart
15	chr11:63596400-63605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:63596600-63605600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:63596800-63605400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:63596800-63605800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:63597200-63605200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:63598400-63605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:63600400-63605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:63600600-63605200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:63602400-63605600	Enhancers	Adipose Nuclei	Adipose
24	chr11:63603000-63605200	Weak transcription	Esophagus	oesophagus
25	chr11:63603600-63605200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:63603800-63605800	Enhancers	Brain Germinal Matrix	brain
27	chr11:63604400-63605200	Enhancers	Hela-S3	cervix
28	chr11:63604400-63605600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:63604400-63605600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:63604400-63605600	Enhancers	Colonic Mucosa	Colon
31	chr11:63604400-63605600	Enhancers	Fetal Intestine Large	intestine
32	chr11:63604400-63605800	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:63604400-63605800	Enhancers	Brain Anterior Caudate	brain
34	chr11:63604400-63605800	Enhancers	Fetal Intestine Small	intestine
35	chr11:63604400-63605800	Enhancers	Gastric	stomach
36	chr11:63604600-63605200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:63604600-63605200	Enhancers	Fetal Brain Female	brain
38	chr11:63604600-63605200	Enhancers	NHEK	skin
39	chr11:63604600-63605400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:63604600-63605400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:63604600-63605400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:63604600-63605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:63604600-63605600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:63604600-63605600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:63604600-63605600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:63604600-63605600	Enhancers	Colon Smooth Muscle	Colon
47	chr11:63604600-63605600	Enhancers	Right Atrium	heart
48	chr11:63604600-63605600	Enhancers	HMEC	breast
49	chr11:63604600-63605600	Enhancers	K562	blood
50	chr11:63604600-63605800	Enhancers	H9 Cell Line	embryonic stem cell

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