Variant report

Variant	rs73521554
Chromosome Location	chr11:94296907-94296908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:94296448-94297000	MCF10A-Er-Src	breast:	n/a	chr11:94296833-94296844
2	CTCF	chr11:94296800-94296950	RPTEC	kidney:	n/a	n/a
3	CTCF	chr11:94296840-94296990	SAEC	small airway:	n/a	n/a
4	CTCF	chr11:94296860-94297010	NHEK	skin:	n/a	n/a
5	CTCF	chr11:94296742-94297011	GM12878	blood:	n/a	n/a
6	CTCF	chr11:94296900-94297050	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr11:94296884-94296934	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:94296800-94296950	HBMEC	blood vessel:	n/a	n/a
9	RAD21	chr11:94296773-94296958	K562	blood:	n/a	n/a
10	CTCF	chr11:94296720-94297068	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:94296780-94296930	A549	lung:	n/a	n/a
12	CTCF	chr11:94296759-94297010	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:94296820-94296970	AG09309	skin:	n/a	n/a
14	CTCF	chr11:94296886-94296918	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:94296719-94297093	K562	blood:	n/a	n/a
16	CTCF	chr11:94296793-94297010	ProgFib	skin:	n/a	n/a
17	CTCF	chr11:94296820-94296970	AG04450	lung:	n/a	n/a
18	CTCF	chr11:94296840-94296990	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr11:94296346-94297277	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr11:94296798-94297007	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr11:94296684-94297108	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr11:94296684-94297091	IMR90	lung:	n/a	n/a
23	RAD21	chr11:94296679-94296982	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:94296840-94296990	AG09319	gingival:	n/a	n/a
25	MEF2A	chr11:94296605-94297057	K562	blood:	n/a	chr11:94296848-94296863
26	E2F4	chr11:94296720-94296988	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr11:94296820-94296970	HRPEpiC	eye:	n/a	n/a
28	MEF2A	chr11:94296698-94297006	K562	blood:	n/a	chr11:94296848-94296863
29	CTCF	chr11:94296860-94297010	HAc	cerebellar:	n/a	n/a
30	ATF1	chr11:94296713-94296989	K562	blood:	n/a	n/a
31	CTCF	chr11:94296820-94296970	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:94296825-94296981	Fibrobl	skin:	n/a	n/a
33	CTCF	chr11:94296840-94296990	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr11:94296800-94296950	HMF	breast:	n/a	n/a
35	RAD21	chr11:94296699-94297056	ECC-1	luminal epithelium:	n/a	n/a
36	MYC	chr11:94296474-94296937	MCF10A-Er-Src	breast:	n/a	chr11:94296608-94296617
37	CTCF	chr11:94296800-94296950	HRE	kidney:	n/a	n/a
38	FOS	chr11:94296657-94297003	HUVEC	blood vessel:	n/a	chr11:94296833-94296844
39	CTCF	chr11:94296760-94296910	WI-38	lung:	n/a	n/a
40	CTCF	chr11:94296780-94297010	NB4	blood:	n/a	n/a
41	FOS	chr11:94296423-94297002	MCF10A-Er-Src	breast:	n/a	chr11:94296833-94296844
42	FOSL2	chr11:94296612-94297020	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:94296800-94296950	HRPEpiC	eye:	n/a	n/a
44	RAD21	chr11:94296726-94297068	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr11:94296780-94296930	AG09309	skin:	n/a	n/a
46	FOS	chr11:94296510-94297003	MCF10A-Er-Src	breast:	n/a	chr11:94296833-94296844
47	RAD21	chr11:94296673-94297295	IMR90	lung:	n/a	n/a
48	MEF2A	chr11:94296724-94297202	SK-N-SH	brain:	n/a	chr11:94296848-94296863
49	CTCF	chr11:94296800-94296950	HMEC	breast:	n/a	n/a
50	RAD21	chr11:94296670-94297121	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94296907-94296957	AG09309	skin:	n/a
2	chr11:94296907-94296957	GM12891	blood:	n/a
3	chr11:94296907-94296957	HL-60	blood:	n/a
4	chr11:94296907-94296957	LNCaP	prostate:	n/a
5	chr11:94296907-94296957	HIPEpiC	eye:	n/a
6	chr11:94296907-94296957	AG10803	skin:	n/a
7	chr11:94296907-94296957	HAEpiC	amniotic membrane:	n/a
8	chr11:94296907-94296957	Caco-2	colon:	n/a
9	chr11:94296907-94296957	SK-N-SH	brain:	n/a
10	chr11:94296907-94296957	HEEpiC	esophagus:	n/a
11	chr11:94296907-94296957	HepG2	liver:	n/a
12	chr11:94296907-94296957	MCF10A-Er-Src	breast:	n/a
13	chr11:94296907-94296957	AG09319	gingival:	n/a
14	chr11:94296907-94296957	U87	brain:	n/a
15	chr11:94296907-94296957	K562	blood:	n/a
16	chr11:94296907-94296957	PrEC	prostate:	n/a
17	chr11:94296907-94296957	H1-hESC	embryonic stem cell:	embryo
18	chr11:94296907-94296957	ProgFib	skin:	n/a
19	chr11:94296907-94296957	HEK293	kidney:	embryo
20	chr11:94296907-94296957	SKMC	muscle:	n/a
21	chr11:94296907-94296957	Hela-S3	cervix:	n/a
22	chr11:94296907-94296957	NH-A	brain:	n/a
23	chr11:94296907-94296957	PFSK-1	brain:	n/a
24	chr11:94296907-94296957	NHDF-neo	bronchial:	n/a
25	chr11:94296907-94296957	SK-N-SH_RA	brain:	n/a
26	chr11:94296907-94296957	HRPEpiC	eye:	n/a
27	chr11:94296907-94296957	BJ	skin:	n/a
28	chr11:94296907-94296957	GM12878	blood:	n/a
29	chr11:94296907-94296957	NT2-D1	testis:	n/a
30	chr11:94296907-94296957	HNPCEpiC	eye:	n/a
31	chr11:94296907-94296957	HMEC	breast:	n/a
32	chr11:94296907-94296957	HRCEpiC	kidney:	n/a
33	chr11:94296907-94296957	GM12892	blood:	n/a
34	chr11:94296907-94296957	HCPEpiC	choroid plexus:	n/a
35	chr11:94296907-94296957	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:94296907-94296957	HCF	heart:	n/a
37	chr11:94296907-94296957	AoSMC	blood vessel:	n/a
38	chr11:94296907-94296957	Jurkat	blood:	n/a
39	chr11:94296907-94296957	PANC-1	pancreas:	n/a
40	chr11:94296907-94296957	AG04450	lung:	fetal
41	chr11:94296907-94296957	HCT-116	colon:	n/a
42	chr11:94296907-94296957	CMK	blood:	n/a
43	chr11:94296907-94296957	ovcar-3	ovarian:	n/a
44	chr11:94296907-94296957	Hepatocyte	liver:	n/a
45	chr11:94296907-94296957	MCF-7	breast:	n/a
46	chr11:94296907-94296957	RPTEC	kidney:	n/a
47	chr11:94296907-94296957	IMR90	lung:	fetal
48	chr11:94296907-94296957	GM06990	blood:	n/a
49	chr11:94296907-94296957	BE2_C	brain:	n/a
50	chr11:94296907-94296957	NHBE	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:94285169..94289502-chr11:94294519..94298132,4	K562	blood:
2	chr11:94254612..94255126-chr11:94296496..94297223,2	MCF-7	breast:
3	chr11:94252622..94253254-chr11:94296474..94297392,2	MCF-7	breast:
4	chr11:94296758..94299631-chr11:94304170..94305829,2	MCF-7	breast:
5	chr11:94283631..94285642-chr11:94296776..94298809,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIWIL4	TF binding region
PIWIL4	CpG island

rs_ID	r²[population]
rs13447605	1.00[AMR][1000 genomes]
rs13447729	1.00[AMR][1000 genomes]
rs13447738	1.00[AMR][1000 genomes]
rs56348204	0.80[AFR][1000 genomes]
rs58458706	1.00[AMR][1000 genomes]
rs58502184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59738863	1.00[AMR][1000 genomes]
rs60569310	1.00[AMR][1000 genomes]
rs61001173	1.00[AMR][1000 genomes]
rs61124264	1.00[AMR][1000 genomes]
rs7105025	1.00[AMR][1000 genomes]
rs7117667	1.00[AMR][1000 genomes]
rs7119572	1.00[AMR][1000 genomes]
rs73512494	1.00[AMR][1000 genomes]
rs73515391	1.00[AMR][1000 genomes]
rs73521558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521559	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521567	1.00[AMR][1000 genomes]
rs73525678	1.00[AMR][1000 genomes]
rs7949265	1.00[AMR][1000 genomes]

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94281000-94319200	Weak transcription	Aorta	Aorta
2	chr11:94282200-94317400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:94282200-94322600	Weak transcription	Brain Anterior Caudate	brain
4	chr11:94282600-94298200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:94282600-94322200	Weak transcription	Fetal Stomach	stomach
6	chr11:94284000-94323400	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:94284200-94303400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:94287600-94297000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:94287800-94297400	Weak transcription	Small Intestine	intestine
10	chr11:94291800-94322000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:94293000-94322400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:94293600-94297200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:94293600-94322400	Weak transcription	Gastric	stomach
14	chr11:94293800-94297000	Weak transcription	Stomach Mucosa	stomach
15	chr11:94295800-94298200	Enhancers	K562	blood
16	chr11:94296000-94297400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:94296000-94297400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:94296000-94297400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:94296000-94297400	Enhancers	NH-A	brain
20	chr11:94296000-94297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:94296000-94297600	Enhancers	HMEC	breast
22	chr11:94296000-94298000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:94296000-94298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:94296200-94297200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:94296200-94297200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:94296200-94297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:94296200-94297200	Enhancers	Fetal Heart	heart
28	chr11:94296200-94297200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:94296200-94297200	Enhancers	HSMM	muscle
30	chr11:94296200-94297200	Enhancers	HUVEC	blood vessel
31	chr11:94296200-94297400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:94296200-94297400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:94296200-94297400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:94296200-94297400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:94296200-94297400	Enhancers	Hela-S3	cervix
36	chr11:94296200-94297400	Enhancers	NHDF-Ad	bronchial
37	chr11:94296200-94297400	Enhancers	Osteobl	bone
38	chr11:94296200-94297600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:94296200-94297600	Enhancers	NHEK	skin
40	chr11:94296200-94298200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:94296400-94297000	Enhancers	Ovary	ovary
42	chr11:94296400-94297200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:94296400-94297200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:94296400-94297200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:94296400-94297400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:94296400-94297400	Enhancers	HSMMtube	muscle
47	chr11:94296400-94297400	Enhancers	NHLF	lung
48	chr11:94296400-94297600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:94296400-94298200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:94296400-94298200	Enhancers	Fetal Intestine Large	intestine

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