Variant report

Variant	rs73495752
Chromosome Location	chr11:76887140-76887141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:76885653-76887437	NB4	blood:	n/a	chr11:76886190-76886199
2	POLR2A	chr11:76886766-76887421	HL-60	blood:	n/a	n/a
3	CTBP2	chr11:76886481-76887363	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr11:76885990-76887544	NB4	blood:	n/a	chr11:76886190-76886199
5	POU2F2	chr11:76886936-76887185	GM12878	blood:	n/a	chr11:76887127-76887136 chr11:76887125-76887139 chr11:76887128-76887135
6	SPI1	chr11:76887019-76887228	GM12891	blood:	n/a	chr11:76887063-76887076 chr11:76887179-76887186
7	SPI1	chr11:76886732-76887436	HL-60	blood:	n/a	chr11:76887063-76887076 chr11:76887179-76887186
8	SPI1	chr11:76886992-76887219	GM12878	blood:	n/a	chr11:76887063-76887076 chr11:76887179-76887186
9	SPI1	chr11:76886932-76887335	HL-60	blood:	n/a	chr11:76887063-76887076 chr11:76887179-76887186
10	POU2F2	chr11:76886896-76887276	GM12878	blood:	n/a	chr11:76887127-76887136 chr11:76887125-76887139 chr11:76887128-76887135
11	SPI1	chr11:76887058-76887189	K562	blood:	n/a	chr11:76887063-76887076 chr11:76887179-76887186
12	MAX	chr11:76886580-76887256	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr11:76886277-76887269	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	chr11:76887139-76887189	HL-60	blood:	n/a
2	chr11:76887139-76887189	AG10803	skin:	n/a
3	chr11:76887139-76887189	HRPEpiC	eye:	n/a
4	chr11:76887139-76887189	ovcar-3	ovarian:	n/a
5	chr11:76887139-76887189	ProgFib	skin:	n/a
6	chr11:76887139-76887189	K562	blood:	n/a
7	chr11:76887139-76887189	Jurkat	blood:	n/a
8	chr11:76887139-76887189	AG09319	gingival:	n/a
9	chr11:76887139-76887189	BJ	skin:	n/a
10	chr11:76887139-76887189	A549	lung:	n/a
11	chr11:76887139-76887189	GM12878	blood:	n/a
12	chr11:76887139-76887189	AoSMC	blood vessel:	n/a
13	chr11:76887139-76887189	HUVEC	blood vessel:	n/a
14	chr11:76887139-76887189	AG04450	lung:	fetal
15	chr11:76887139-76887189	HCT-116	colon:	n/a
16	chr11:76887139-76887189	GM12892	blood:	n/a
17	chr11:76887139-76887189	HAEpiC	amniotic membrane:	n/a
18	chr11:76887139-76887189	HRCEpiC	kidney:	n/a
19	chr11:76887139-76887189	SK-N-SH_RA	brain:	n/a
20	chr11:76887139-76887189	PANC-1	pancreas:	n/a
21	chr11:76887139-76887189	PrEC	prostate:	n/a
22	chr11:76887139-76887189	AG09309	skin:	n/a
23	chr11:76887139-76887189	HepG2	liver:	n/a
24	chr11:76887139-76887189	SK-N-MC	brain:	n/a
25	chr11:76887139-76887189	HIPEpiC	eye:	n/a
26	chr11:76887139-76887189	NB4	blood:	n/a
27	chr11:76887139-76887189	HEEpiC	esophagus:	n/a
28	chr11:76887139-76887189	HCPEpiC	choroid plexus:	n/a
29	chr11:76887139-76887189	IMR90	lung:	fetal
30	chr11:76887139-76887189	MCF10A-Er-Src	breast:	n/a
31	chr11:76887139-76887189	Hela-S3	cervix:	n/a
32	chr11:76887139-76887189	NT2-D1	testis:	n/a
33	chr11:76887139-76887189	GM06990	blood:	n/a
34	chr11:76887139-76887189	HMEC	breast:	n/a
35	chr11:76887139-76887189	HCF	heart:	n/a
36	chr11:76887139-76887189	HEK293	kidney:	embryo
37	chr11:76887139-76887189	GM19239	blood:	n/a
38	chr11:76887139-76887189	PFSK-1	brain:	n/a
39	chr11:76887139-76887189	Hepatocyte	liver:	n/a
40	chr11:76887139-76887189	U87	brain:	n/a
41	chr11:76887139-76887189	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:76887139-76887189	SK-N-SH	brain:	n/a
43	chr11:76887139-76887189	T-47D	breast:	n/a
44	chr11:76887139-76887189	NHDF-neo	bronchial:	n/a
45	chr11:76887139-76887189	H1-hESC	embryonic stem cell:	embryo
46	chr11:76887139-76887189	AG04449	skin:	fetal
47	chr11:76887139-76887189	NHBE	bronchial:	n/a
48	chr11:76887139-76887189	GM12891	blood:	n/a
49	chr11:76887139-76887189	CMK	blood:	n/a
50	chr11:76887139-76887189	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:76866046..76867618-chr11:76885201..76887401,2	MCF-7	breast:
2	chr11:76762488..76764509-chr11:76886200..76888160,2	MCF-7	breast:
3	chr11:76878152..76880429-chr11:76885737..76888669,2	K562	blood:

No data

Variant related genes	Relation type
MYO7A	TF binding region
MYO7A	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58345245	0.83[AMR][1000 genomes]
rs7120446	1.00[AMR][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	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76869400-76889200	Weak transcription	Pancreas	Pancrea
2	chr11:76880200-76887600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
4	chr11:76881200-76888000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:76882400-76888000	Enhancers	Fetal Muscle Leg	muscle
6	chr11:76882800-76887600	Enhancers	Spleen	Spleen
7	chr11:76883200-76889200	Weak transcription	Gastric	stomach
8	chr11:76883400-76887800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:76883400-76889800	Weak transcription	Ovary	ovary
10	chr11:76883800-76887600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:76883800-76898400	Weak transcription	Colonic Mucosa	Colon
12	chr11:76884000-76888200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:76885000-76887600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:76885200-76896000	Strong transcription	Fetal Intestine Large	intestine
15	chr11:76885400-76887600	Enhancers	HSMM	muscle
16	chr11:76885400-76887800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:76885400-76887800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:76885400-76887800	Enhancers	HSMMtube	muscle
19	chr11:76885400-76896000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:76885600-76887600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76885600-76887800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:76885600-76890000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:76885800-76887600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:76885800-76889800	Weak transcription	HepG2	liver
25	chr11:76886000-76887800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:76886000-76888000	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:76886000-76894600	Weak transcription	Brain Substantia Nigra	brain
28	chr11:76886200-76887200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:76886200-76887400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:76886200-76887600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr11:76886200-76887600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:76886200-76887800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:76886200-76887800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:76886200-76887800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:76886200-76888400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:76886400-76887200	Enhancers	Thymus	Thymus
37	chr11:76886400-76887600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:76886400-76887600	Enhancers	Primary B cells from cord blood	blood
39	chr11:76886400-76887600	Enhancers	Fetal Thymus	thymus
40	chr11:76886400-76887600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:76886400-76887800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:76886400-76888200	Weak transcription	Liver	Liver
43	chr11:76886600-76887200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:76886600-76887400	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:76886600-76887400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:76886600-76887600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:76886800-76887200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:76886800-76887200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:76886800-76887400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:76886800-76887400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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