Variant report

Variant	esv1824106
Chromosome Location	chr15:76891342-76930805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:76907151-76907359	GM12878	blood:	n/a	n/a
2	BATF	chr15:76907137-76907384	GM12878	blood:	n/a	n/a
3	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
4	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
5	CEBPB	chr15:76908855-76909056	HepG2	liver:	n/a	chr15:76908970-76908981
6	CHD2	chr15:76917763-76917765	HepG2	liver:	n/a	n/a
7	CTCF	chr15:76917740-76917890	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr15:76917680-76917830	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr15:76917684-76917904	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:76917720-76917870	GM12878	blood:	n/a	n/a
11	CTCF	chr15:76917697-76917885	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:76917720-76917870	BJ	skin:	n/a	n/a
13	CTCF	chr15:76917699-76917880	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:76917711-76917861	GM12878	blood:	n/a	n/a
15	CTCF	chr15:76900763-76900839	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:76917700-76917850	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:76917720-76917870	HEK293	kidney:	n/a	n/a
18	CTCF	chr15:76917640-76917790	HMF	breast:	n/a	n/a
19	CTCF	chr15:76917720-76917870	K562	blood:	n/a	n/a
20	CTCF	chr15:76900797-76900818	MCF-7	breast:	n/a	n/a
21	CTCF	chr15:76917700-76917850	MCF-7	breast:	n/a	n/a
22	CTCF	chr15:76917760-76917910	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr15:76917720-76917870	Caco-2	colon:	n/a	n/a
24	CTCF	chr15:76900780-76900838	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:76917940-76918090	A549	lung:	n/a	n/a
26	CTCF	chr15:76917600-76917750	A549	lung:	n/a	n/a
27	CTCF	chr15:76917740-76917890	A549	lung:	n/a	n/a
28	CTCF	chr15:76917660-76917810	GM12878	blood:	n/a	n/a
29	CTCF	chr15:76917644-76917909	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:76917740-76917890	WI-38	lung:	n/a	n/a
31	CTCF	chr15:76917760-76917910	HPF	lung:	n/a	n/a
32	CTCF	chr15:76917680-76917830	MCF-7	breast:	n/a	n/a
33	CTCF	chr15:76917688-76917893	MCF-7	breast:	n/a	n/a
34	CTCF	chr15:76917702-76917896	MCF-7	breast:	n/a	n/a
35	CTCF	chr15:76917720-76917870	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr15:76917340-76917490	GM12874	blood:	n/a	n/a
37	CTCF	chr15:76917613-76917929	K562	blood:	n/a	n/a
38	CTCF	chr15:76917640-76917790	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr15:76917650-76917871	HepG2	liver:	n/a	n/a
40	CTCF	chr15:76917700-76917850	GM12874	blood:	n/a	n/a
41	CTCF	chr15:76917620-76917910	HCM	heart:	n/a	n/a
42	CTCF	chr15:76917711-76917900	HepG2	liver:	n/a	n/a
43	CTCF	chr15:76917642-76917956	GM12878	blood:	n/a	n/a
44	CTCF	chr15:76917700-76917850	HepG2	liver:	n/a	n/a
45	CTCF	chr15:76917720-76917870	GM12869	blood:	n/a	n/a
46	CTCF	chr15:76917688-76917957	K562	blood:	n/a	n/a
47	CTCF	chr15:76917671-76917915	A549	lung:	n/a	n/a
48	CTCF	chr15:76917585-76918014	K562	blood:	n/a	n/a
49	CTCF	chr15:76917754-76917831	GM12892	blood:	n/a	n/a
50	CTCF	chr15:76917674-76917896	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	chr15:76901065-76901115	HEK293	kidney:	embryo
2	chr15:76901065-76901115	BE2_C	brain:	n/a
3	chr15:76901065-76901115	HMEC	breast:	n/a
4	chr15:76901065-76901115	HCPEpiC	choroid plexus:	n/a
5	chr15:76901065-76901115	IMR90	lung:	fetal
6	chr15:76901065-76901115	PANC-1	pancreas:	n/a
7	chr15:76901065-76901115	AG04450	lung:	fetal
8	chr15:76901065-76901115	K562	blood:	n/a
9	chr15:76901065-76901115	GM12878	blood:	n/a
10	chr15:76901065-76901115	HL-60	blood:	n/a
11	chr15:76901065-76901115	NT2-D1	testis:	n/a
12	chr15:76901065-76901115	HRPEpiC	eye:	n/a
13	chr15:76901065-76901115	HCT-116	colon:	n/a
14	chr15:76901065-76901115	HEEpiC	esophagus:	n/a
15	chr15:76901065-76901115	AoSMC	blood vessel:	n/a
16	chr15:76901065-76901115	HAEpiC	amniotic membrane:	n/a
17	chr15:76901065-76901115	PFSK-1	brain:	n/a
18	chr15:76901065-76901115	CMK	blood:	n/a
19	chr15:76901065-76901115	Jurkat	blood:	n/a
20	chr15:76901065-76901115	MCF10A-Er-Src	breast:	n/a
21	chr15:76901065-76901115	HPAEpiC	pulmonary alveolar:	n/a
22	chr15:76901065-76901115	GM12892	blood:	n/a
23	chr15:76901065-76901115	ECC-1	luminal epithelium:	n/a
24	chr15:76901065-76901115	AG09309	skin:	n/a
25	chr15:76901065-76901115	SKMC	muscle:	n/a
26	chr15:76901065-76901115	A549	lung:	n/a
27	chr15:76901065-76901115	ovcar-3	ovarian:	n/a
28	chr15:76901065-76901115	NH-A	brain:	n/a
29	chr15:76901065-76901115	NHDF-neo	bronchial:	n/a
30	chr15:76901065-76901115	HCM	heart:	n/a
31	chr15:76901065-76901115	GM12891	blood:	n/a
32	chr15:76901065-76901115	HRCEpiC	kidney:	n/a
33	chr15:76901065-76901115	SK-N-SH	brain:	n/a
34	chr15:76901065-76901115	RPTEC	kidney:	n/a
35	chr15:76901065-76901115	HRE	kidney:	n/a
36	chr15:76901065-76901115	ProgFib	skin:	n/a
37	chr15:76901065-76901115	AG09319	gingival:	n/a
38	chr15:76901065-76901115	T-47D	breast:	n/a
39	chr15:76901065-76901115	NB4	blood:	n/a
40	chr15:76901065-76901115	SK-N-MC	brain:	n/a
41	chr15:76901065-76901115	Caco-2	colon:	n/a
42	chr15:76901065-76901115	GM19239	blood:	n/a
43	chr15:76901065-76901115	NHBE	bronchial:	n/a
44	chr15:76901065-76901115	PrEC	prostate:	n/a
45	chr15:76901065-76901115	U87	brain:	n/a
46	chr15:76901065-76901115	SK-N-SH_RA	brain:	n/a
47	chr15:76901065-76901115	GM06990	blood:	n/a
48	chr15:76901065-76901115	HCF	heart:	n/a
49	chr15:76901065-76901115	Hela-S3	cervix:	n/a
50	chr15:76901065-76901115	H1-hESC	embryonic stem cell:	embryo

No data

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

Extended variants
information (count: 1455 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183066037	chr15:76891349-76891350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532267367	chr15:76891354-76891355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201690741	chr15:76891364-76891365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187244098	chr15:76891402-76891403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116011521	chr15:76891433-76891434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114728905	chr15:76891468-76891469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547202679	chr15:76891479-76891480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568585227	chr15:76891533-76891534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377486506	chr15:76891536-76891537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557104069	chr15:76891596-76891597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528233928	chr15:76891623-76891624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539487489	chr15:76891672-76891673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368514609	chr15:76891718-76891719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552207419	chr15:76891723-76891724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558076236	chr15:76891730-76891731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573127663	chr15:76891732-76891733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191278734	chr15:76891765-76891766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540030790	chr15:76891767-76891768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370344411	chr15:76891799-76891800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573768858	chr15:76891929-76891930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540340446	chr15:76892004-76892005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565669124	chr15:76892022-76892023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140720837	chr15:76892044-76892045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563442736	chr15:76892089-76892090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144683626	chr15:76892133-76892134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182408665	chr15:76892204-76892205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73457040	chr15:76892324-76892325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528756690	chr15:76892342-76892343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546996436	chr15:76892410-76892411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568602784	chr15:76892498-76892499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528226939	chr15:76892525-76892526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561743750	chr15:76892552-76892553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116128524	chr15:76892588-76892589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550693306	chr15:76892598-76892599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569016115	chr15:76892617-76892618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187894557	chr15:76892693-76892694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147488441	chr15:76892695-76892696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72275732	chr15:76892729-76892730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200892023	chr15:76892763-76892764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60494575	chr15:76892764-76892765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193295460	chr15:76892770-76892771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71143345	chr15:76892771-76892772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202157122	chr15:76892782-76892783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566366090	chr15:76892792-76892793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201624894	chr15:76892794-76892795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57171362	chr15:76892795-76892796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534058564	chr15:76892797-76892798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398027996	chr15:76892807-76892808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555382576	chr15:76892871-76892872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573731222	chr15:76892878-76892879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood
3	chr15:76898000-76902600	Weak transcription	Ovary	ovary
4	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
5	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
6	chr15:76899800-76904400	Weak transcription	Lung	lung
7	chr15:76900800-76901200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:76900800-76902000	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr15:76900800-76902600	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr15:76900800-76902600	ZNF genes & repeats	Fetal Stomach	stomach
11	chr15:76901000-76901800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:76901000-76902400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:76901000-76902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:76901000-76902600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr15:76901000-76917200	Weak transcription	Gastric	stomach
16	chr15:76901200-76902400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:76901400-76901600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:76901400-76902800	ZNF genes & repeats	Dnd41	blood
19	chr15:76901400-76902800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr15:76902000-76903400	Weak transcription	Primary T cells from cord blood	blood
21	chr15:76902200-76902800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr15:76902200-76903600	Weak transcription	Brain Anterior Caudate	brain
23	chr15:76902600-76907400	Weak transcription	Fetal Stomach	stomach
24	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr15:76902800-76926400	Weak transcription	Dnd41	blood
27	chr15:76903400-76904000	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
29	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:76904000-76905000	ZNF genes & repeats	Liver	Liver
32	chr15:76904000-76908200	Weak transcription	Primary T cells from cord blood	blood
33	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:76904400-76905000	ZNF genes & repeats	Lung	lung
35	chr15:76904400-76905000	ZNF genes & repeats	Ovary	ovary
36	chr15:76904400-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:76904400-76923600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:76904600-76904800	ZNF genes & repeats	Aorta	Aorta
39	chr15:76904800-76905800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
41	chr15:76905000-76907600	Weak transcription	Lung	lung
42	chr15:76905000-76941000	Weak transcription	Ovary	ovary
43	chr15:76905200-76908200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:76905400-76908600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:76905600-76905800	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr15:76905800-76906200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:76905800-76909800	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:76905800-76915800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:76906000-76919000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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