Variant report

Variant	rs61080184
Chromosome Location	chr11:105893240-105893241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:379)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:379 , 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	MAX	chr11:105892542-105893432	MCF-7	breast:	n/a	chr11:105892741-105892750 chr11:105892989-105892999
2	CHD2	chr11:105892519-105893511	GM12878	blood:	n/a	n/a
3	FOSL2	chr11:105892918-105893436	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:105892648-105893466	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYA	chr11:105892686-105893924	Hela-S3	cervix:	n/a	n/a
6	SETDB1	chr11:105892876-105893515	U2OS	brain:	n/a	n/a
7	ATF3	chr11:105892978-105893367	K562	blood:	n/a	n/a
8	POLR2A	chr11:105892452-105893529	GM12892	blood:	n/a	n/a
9	CREB1	chr11:105892843-105893549	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:105892874-105893419	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:105892349-105893689	GM12892	blood:	n/a	n/a
12	TCF12	chr11:105892517-105893570	ECC-1	luminal epithelium:	n/a	chr11:105893165-105893173 chr11:105892543-105892553
13	JUN	chr11:105892876-105893384	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOS	chr11:105892731-105893534	K562	blood:	n/a	n/a
15	CEBPZ	chr11:105892939-105893378	HepG2	liver:	n/a	n/a
16	USF1	chr11:105893092-105893284	GM12878	blood:	n/a	n/a
17	FOS	chr11:105892802-105893430	HUVEC	blood vessel:	n/a	n/a
18	TCF12	chr11:105893094-105893439	H1-hESC	embryonic stem cell:	n/a	chr11:105893165-105893173
19	TBL1XR1	chr11:105892732-105893565	K562	blood:	n/a	n/a
20	POLR2A	chr11:105892411-105893592	GM18951	blood:	n/a	n/a
21	FOSL2	chr11:105892867-105893556	A549	lung:	n/a	n/a
22	TBL1XR1	chr11:105892603-105893726	GM12878	blood:	n/a	n/a
23	PAX5	chr11:105892650-105893441	GM12878	blood:	n/a	n/a
24	POU2F2	chr11:105892739-105893563	GM12878	blood:	n/a	n/a
25	EBF1	chr11:105892262-105893679	GM12878	blood:	n/a	chr11:105892539-105892548
26	NR2F2	chr11:105892951-105893454	MCF-7	breast:	n/a	n/a
27	FOXM1	chr11:105892753-105893537	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:105893170-105893499	GM12892	blood:	n/a	n/a
29	BRCA1	chr11:105892768-105893369	GM12878	blood:	n/a	n/a
30	CTCF	chr11:105893198-105893298	Kidney_OC	kidney:	n/a	n/a
31	POLR2A	chr11:105892426-105893536	H1-neurons	neurons:	n/a	n/a
32	ZNF384	chr11:105892690-105893908	K562	blood:	n/a	n/a
33	KAP1	chr11:105892316-105893539	HEK293	kidney:	n/a	n/a
34	USF2	chr11:105892986-105893514	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:105892618-105893534	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:105893187-105893575	GM12891	blood:	n/a	n/a
37	TAF1	chr11:105893122-105893496	GM12878	blood:	n/a	n/a
38	TEAD4	chr11:105892878-105893536	H1-hESC	embryonic stem cell:	n/a	n/a
39	SP1	chr11:105892748-105893563	GM12878	blood:	n/a	chr11:105892989-105892998 chr11:105892990-105892999 chr11:105892988-105893000 chr11:105892989-105893003 chr11:105893171-105893182 chr11:105892989-105892999
40	SIX5	chr11:105893016-105893288	A549	lung:	n/a	n/a
41	MAFF	chr11:105893126-105893362	HepG2	liver:	n/a	n/a
42	USF1	chr11:105892948-105893359	SK-N-SH_RA	brain:	n/a	n/a
43	CREB1	chr11:105892653-105893573	HepG2	liver:	n/a	n/a
44	CTCF	chr11:105892906-105893383	K562	blood:	n/a	chr11:105893176-105893186 chr11:105893168-105893189 chr11:105893175-105893188
45	TBP	chr11:105892920-105893402	HepG2	liver:	n/a	n/a
46	MYC	chr11:105892972-105893277	MCF10A-Er-Src	breast:	n/a	chr11:105892989-105892999
47	POLR2A	chr11:105891995-105893585	GM18505	blood:	n/a	n/a
48	USF2	chr11:105893027-105893359	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr11:105892359-105893549	IMR90	lung:	n/a	n/a
50	YY1	chr11:105892860-105893431	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:105893221-105893271	K562	blood:	n/a
2	chr11:105893221-105893271	HNPCEpiC	eye:	n/a
3	chr11:105893221-105893271	T-47D	breast:	n/a
4	chr11:105893221-105893271	Hela-S3	cervix:	n/a
5	chr11:105893221-105893271	HCM	heart:	n/a
6	chr11:105893221-105893271	MCF-7	breast:	n/a
7	chr11:105893221-105893271	HCT-116	colon:	n/a
8	chr11:105893221-105893271	HEEpiC	esophagus:	n/a
9	chr11:105893221-105893271	NB4	blood:	n/a
10	chr11:105893221-105893271	NHBE	bronchial:	n/a
11	chr11:105893221-105893271	HUVEC	blood vessel:	n/a
12	chr11:105893221-105893271	HRE	kidney:	n/a
13	chr11:105893221-105893271	PFSK-1	brain:	n/a
14	chr11:105893221-105893271	CMK	blood:	n/a
15	chr11:105893221-105893271	HRCEpiC	kidney:	n/a
16	chr11:105893221-105893271	AoSMC	blood vessel:	n/a
17	chr11:105893221-105893271	HIPEpiC	eye:	n/a
18	chr11:105893221-105893271	AG04449	skin:	fetal
19	chr11:105893221-105893271	BJ	skin:	n/a
20	chr11:105893221-105893271	NH-A	brain:	n/a
21	chr11:105893221-105893271	GM12892	blood:	n/a
22	chr11:105893221-105893271	SK-N-MC	brain:	n/a
23	chr11:105893221-105893271	HL-60	blood:	n/a
24	chr11:105893221-105893271	HEK293	kidney:	embryo
25	chr11:105893221-105893271	RPTEC	kidney:	n/a
26	chr11:105893221-105893271	BE2_C	brain:	n/a
27	chr11:105893221-105893271	Hepatocyte	liver:	n/a
28	chr11:105893221-105893271	AG09309	skin:	n/a
29	chr11:105893221-105893271	GM12878	blood:	n/a
30	chr11:105893221-105893271	H1-hESC	embryonic stem cell:	embryo
31	chr11:105893221-105893271	SK-N-SH_RA	brain:	n/a
32	chr11:105893221-105893271	HRPEpiC	eye:	n/a
33	chr11:105893221-105893271	Jurkat	blood:	n/a
34	chr11:105893221-105893271	AG09319	gingival:	n/a
35	chr11:105893221-105893271	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:105893221-105893271	PrEC	prostate:	n/a
37	chr11:105893221-105893271	SKMC	muscle:	n/a
38	chr11:105893221-105893271	NHDF-neo	bronchial:	n/a
39	chr11:105893221-105893271	SK-N-SH	brain:	n/a
40	chr11:105893221-105893271	AG04450	lung:	fetal
41	chr11:105893221-105893271	ovcar-3	ovarian:	n/a
42	chr11:105893221-105893271	ProgFib	skin:	n/a
43	chr11:105893221-105893271	HepG2	liver:	n/a
44	chr11:105893221-105893271	AG10803	skin:	n/a
45	chr11:105893221-105893271	HMEC	breast:	n/a
46	chr11:105893221-105893271	GM19239	blood:	n/a
47	chr11:105893221-105893271	HCF	heart:	n/a
48	chr11:105893221-105893271	HAEpiC	amniotic membrane:	n/a
49	chr11:105893221-105893271	PANC-1	pancreas:	n/a
50	chr11:105893221-105893271	U87	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:105890839..105893464-chr11:105945938..105948303,3	K562	blood:
2	chr11:105889494..105894632-chr11:105945234..105949346,5	K562	blood:
3	chr11:105892933..105893708-chr11:105947335..105948123,2	NB4	blood:

No data

Variant related genes	Relation type
MSANTD4	TF binding region
MSANTD4	CpG island
ENSG00000149313	Chromatin interaction
ENSG00000182359	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17093811	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56351451	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72975098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72981217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72981224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72981237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72981245	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][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	nsv526898	chr11:105884085-105893494	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr11:105889800-105893600	Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr11:105890400-105893800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:105891400-105893600	Active TSS	Right Ventricle	heart
4	chr11:105891400-105893800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:105891600-105893400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:105891600-105893600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:105891600-105893800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:105891600-105893800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:105891600-105893800	Active TSS	Psoas Muscle	Psoas
10	chr11:105891600-105893800	Active TSS	Right Atrium	heart
11	chr11:105891600-105894000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:105891800-105893400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:105891800-105893600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:105891800-105893600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:105891800-105893600	Active TSS	Fetal Muscle Leg	muscle
16	chr11:105891800-105893600	Active TSS	HSMM	muscle
17	chr11:105891800-105893800	Active TSS	NHLF	lung
18	chr11:105892000-105893400	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:105892000-105893400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:105892000-105893400	Active TSS	Fetal Thymus	thymus
21	chr11:105892000-105893600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:105892000-105893600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:105892000-105893600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:105892000-105893600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:105892000-105893600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:105892000-105893600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:105892000-105893600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:105892000-105893600	Active TSS	Brain Anterior Caudate	brain
29	chr11:105892000-105893600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:105892000-105893600	Active TSS	Fetal Intestine Large	intestine
31	chr11:105892000-105893600	Active TSS	Ovary	ovary
32	chr11:105892000-105893600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr11:105892000-105893600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:105892000-105893600	Active TSS	K562	blood
35	chr11:105892000-105893600	Active TSS	NHDF-Ad	bronchial
36	chr11:105892000-105893800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:105892000-105893800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:105892000-105893800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:105892000-105893800	Active TSS	Aorta	Aorta
40	chr11:105892000-105893800	Active TSS	A549	lung
41	chr11:105892000-105893800	Active TSS	GM12878-XiMat	blood
42	chr11:105892000-105894000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:105892200-105893400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:105892200-105893400	Active TSS	Fetal Lung	lung
45	chr11:105892200-105893400	Active TSS	HMEC	breast
46	chr11:105892200-105893400	Active TSS	Osteobl	bone
47	chr11:105892200-105893600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:105892200-105893600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:105892200-105893600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:105892200-105893600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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