Variant report

Variant	rs73480570
Chromosome Location	chr11:57414583-57414584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:57413960-57416168	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57414171-57414818	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
5	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
6	POLR2A	chr11:57414127-57415510	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
9	TEAD4	chr11:57414272-57414749	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:57412821-57416389	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:57414281-57414717	A549	lung:	n/a	n/a
13	SIN3A	chr11:57413866-57417706	H1-hESC	embryonic stem cell:	n/a	chr11:57414716-57414729 chr11:57416870-57416883 chr11:57415091-57415101 chr11:57417329-57417340
14	POLR2A	chr11:57413864-57414896	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:57411926-57416336	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:57411980-57417263	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:57414164-57415210	A549	lung:	n/a	n/a
18	POLR2A	chr11:57414138-57417886	ProgFib	skin:	n/a	n/a
19	POLR2A	chr11:57414165-57414727	A549	lung:	n/a	n/a
20	USF2	chr11:57414128-57417940	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:57414033-57415179	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr11:57412040-57416702	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:57414387-57414696	HepG2	liver:	n/a	n/a
26	NANOG	chr11:57414184-57415143	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP4	chr11:57414155-57415248	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr11:57414053-57414671	A549	lung:	n/a	n/a
29	TBP	chr11:57414581-57415380	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr11:57414217-57414783	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
33	CREB1	chr11:57414154-57415328	H1-hESC	embryonic stem cell:	n/a	n/a
34	PBX3	chr11:57414226-57416231	A549	lung:	n/a	chr11:57415576-57415585
35	PBX3	chr11:57414362-57416288	A549	lung:	n/a	chr11:57415576-57415585
36	POLR2A	chr11:57414233-57414776	HCT-116	colon:	n/a	n/a
37	POLR2A	chr11:57414419-57414815	HCT-116	colon:	n/a	n/a
38	POLR2A	chr11:57413929-57416256	HUVEC	blood vessel:	n/a	n/a
39	TAF7	chr11:57414171-57415375	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:57413511-57415806	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:57414249-57414645	HepG2	liver:	n/a	n/a
43	PBX3	chr11:57414325-57415153	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr11:57410100-57417938	PBDE	blood:	n/a	n/a
45	NRF1	chr11:57414336-57414705	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:57414093-57415283	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr11:57414193-57418271	A549	lung:	n/a	n/a
48	POLR2A	chr11:57414036-57415597	U87	brain:	n/a	n/a
49	POLR2A	chr11:57414059-57414756	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr11:57413874-57415297	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57414557-57414607	MCF-7	breast:	n/a
2	chr11:57414557-57414607	HRPEpiC	eye:	n/a
3	chr11:57414557-57414607	PANC-1	pancreas:	n/a
4	chr11:57414557-57414607	GM12878	blood:	n/a
5	chr11:57414557-57414607	GM19239	blood:	n/a
6	chr11:57414557-57414607	GM12891	blood:	n/a
7	chr11:57414557-57414607	Caco-2	colon:	n/a
8	chr11:57414557-57414607	AG04450	lung:	fetal
9	chr11:57414557-57414607	HCPEpiC	choroid plexus:	n/a
10	chr11:57414557-57414607	SK-N-SH_RA	brain:	n/a
11	chr11:57414557-57414607	HepG2	liver:	n/a
12	chr11:57414557-57414607	ProgFib	skin:	n/a
13	chr11:57414557-57414607	U87	brain:	n/a
14	chr11:57414557-57414607	K562	blood:	n/a
15	chr11:57414557-57414607	BJ	skin:	n/a
16	chr11:57414557-57414607	SK-N-SH	brain:	n/a
17	chr11:57414557-57414607	NHBE	bronchial:	n/a
18	chr11:57414557-57414607	HMEC	breast:	n/a
19	chr11:57414557-57414607	HCF	heart:	n/a
20	chr11:57414557-57414607	ovcar-3	ovarian:	n/a
21	chr11:57414557-57414607	NT2-D1	testis:	n/a
22	chr11:57414557-57414607	GM06990	blood:	n/a
23	chr11:57414557-57414607	HRCEpiC	kidney:	n/a
24	chr11:57414557-57414607	AG04449	skin:	fetal
25	chr11:57414557-57414607	AG10803	skin:	n/a
26	chr11:57414557-57414607	HNPCEpiC	eye:	n/a
27	chr11:57414557-57414607	HAEpiC	amniotic membrane:	n/a
28	chr11:57414557-57414607	SAEC	small airway:	n/a
29	chr11:57414557-57414607	NHDF-neo	bronchial:	n/a
30	chr11:57414557-57414607	PFSK-1	brain:	n/a
31	chr11:57414557-57414607	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:57414557-57414607	LNCaP	prostate:	n/a
33	chr11:57414557-57414607	Hela-S3	cervix:	n/a
34	chr11:57414557-57414607	AG09319	gingival:	n/a
35	chr11:57414557-57414607	AoSMC	blood vessel:	n/a
36	chr11:57414557-57414607	GM12892	blood:	n/a
37	chr11:57414557-57414607	A549	lung:	n/a
38	chr11:57414557-57414607	HL-60	blood:	n/a
39	chr11:57414557-57414607	HRE	kidney:	n/a
40	chr11:57414557-57414607	NH-A	brain:	n/a
41	chr11:57414557-57414607	HCM	heart:	n/a
42	chr11:57414557-57414607	ECC-1	luminal epithelium:	n/a
43	chr11:57414557-57414607	Hepatocyte	liver:	n/a
44	chr11:57414557-57414607	SK-N-MC	brain:	n/a
45	chr11:57414557-57414607	CMK	blood:	n/a
46	chr11:57414557-57414607	MCF10A-Er-Src	breast:	n/a
47	chr11:57414557-57414607	HEEpiC	esophagus:	n/a
48	chr11:57414557-57414607	Jurkat	blood:	n/a
49	chr11:57414557-57414607	IMR90	lung:	fetal
50	chr11:57414557-57414607	HIPEpiC	eye:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57224684..57228396-chr11:57412206..57415806,3	K562	blood:
2	chr11:57335649..57336286-chr11:57413903..57414633,2	MCF-7	breast:
3	chr11:57191864..57193854-chr11:57413705..57415355,2	K562	blood:
4	chr11:57411538..57415148-chr11:57422707..57424942,3	K562	blood:
5	chr11:57191864..57194047-chr11:57412922..57415205,2	K562	blood:
6	chr11:57333866..57335515-chr11:57412954..57415220,2	MCF-7	breast:
7	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:

No data

Variant related genes	Relation type
CLP1	TF binding region
ENSG00000254602	TF binding region
CLP1	CpG island
ENSG00000254602	CpG island
ENSG00000134802	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000156587	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57769499	1.00[AMR][1000 genomes]
rs59112417	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' 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
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57409000-57416200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57411000-57414600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:57411200-57414800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:57411200-57414800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:57411200-57415600	Enhancers	K562	blood
6	chr11:57411600-57416200	Enhancers	Fetal Lung	lung
7	chr11:57412000-57415800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:57412200-57414800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
9	chr11:57412200-57414800	Enhancers	HSMMtube	muscle
10	chr11:57412200-57415800	Enhancers	Ovary	ovary
11	chr11:57412200-57416200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:57412200-57416400	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr11:57412200-57416800	Enhancers	Lung	lung
14	chr11:57412200-57416800	Enhancers	Spleen	Spleen
15	chr11:57412200-57417000	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr11:57412800-57416000	Bivalent Enhancer	Fetal Thymus	thymus
17	chr11:57413000-57414600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:57413000-57415000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr11:57413000-57415800	Enhancers	Fetal Brain Male	brain
20	chr11:57413000-57415800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
21	chr11:57413000-57416400	Enhancers	Right Ventricle	heart
22	chr11:57413000-57416800	Bivalent Enhancer	NH-A	brain
23	chr11:57413200-57414800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:57413200-57414800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr11:57413200-57416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:57413200-57416200	Bivalent Enhancer	NHLF	lung
27	chr11:57413200-57416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:57413200-57417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:57413400-57414800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:57413400-57415000	Enhancers	Fetal Heart	heart
31	chr11:57413400-57415800	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr11:57413400-57416000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:57413400-57416000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr11:57413400-57416000	Bivalent Enhancer	Dnd41	blood
35	chr11:57413400-57416200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr11:57413400-57416600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr11:57413600-57414600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr11:57413600-57415000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr11:57413600-57415200	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr11:57413600-57415200	Bivalent Enhancer	Left Ventricle	heart
41	chr11:57413600-57415800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr11:57413600-57416000	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr11:57413600-57416400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
46	chr11:57413600-57418200	Enhancers	HMEC	breast
47	chr11:57413800-57414600	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr11:57413800-57415400	Enhancers	Esophagus	oesophagus
49	chr11:57413800-57416000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr11:57413800-57416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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