Variant report

Variant	nsv570109
Chromosome Location	chr15:76907376-76978139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:76935433-76935442	HepG2	liver:	n/a	n/a
2	BATF	chr15:76946672-76946896	GM12878	blood:	n/a	n/a
3	BATF	chr15:76907137-76907384	GM12878	blood:	n/a	n/a
4	BATF	chr15:76946679-76946925	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:76946684-76946864	GM12878	blood:	n/a	n/a
6	BHLHE40	chr15:76946680-76946809	GM12878	blood:	n/a	n/a
7	BRCA1	chr15:76969668-76969722	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
9	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
10	CEBPB	chr15:76960889-76961156	HepG2	liver:	n/a	n/a
11	CEBPB	chr15:76960844-76961108	A549	lung:	n/a	n/a
12	CEBPB	chr15:76908855-76909056	HepG2	liver:	n/a	chr15:76908970-76908981
13	CEBPB	chr15:76953585-76953673	A549	lung:	n/a	n/a
14	CEBPB	chr15:76963560-76963674	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr15:76917763-76917765	HepG2	liver:	n/a	n/a
16	CTCF	chr15:76935080-76935230	HepG2	liver:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
17	CTCF	chr15:76935120-76935270	AG09309	skin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
18	CTCF	chr15:76935160-76935310	HMEC	breast:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
19	CTCF	chr15:76935235-76935259	LNCaP	prostate:	n/a	n/a
20	CTCF	chr15:76917680-76917830	HRE	kidney:	n/a	n/a
21	CTCF	chr15:76917740-76917890	WI-38	lung:	n/a	n/a
22	CTCF	chr15:76935416-76935466	MCF-7	breast:	n/a	chr15:76935430-76935446
23	CTCF	chr15:76935100-76935291	SK-N-SH_RA	brain:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
24	CTCF	chr15:76935080-76935230	GM12873	blood:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
25	CTCF	chr15:76917688-76917957	K562	blood:	n/a	n/a
26	CTCF	chr15:76935120-76935270	GM12878	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
27	CTCF	chr15:76935140-76935290	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
28	CTCF	chr15:76935180-76935330	HepG2	liver:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
29	CTCF	chr15:76917644-76917909	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:76917760-76917910	HPF	lung:	n/a	n/a
31	CTCF	chr15:76935140-76935290	HMF	breast:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
32	CTCF	chr15:76917340-76917490	GM12874	blood:	n/a	n/a
33	CTCF	chr15:76963582-76963603	MCF-7	breast:	n/a	n/a
34	CTCF	chr15:76917740-76917890	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr15:76935160-76935310	HPF	lung:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
36	CTCF	chr15:76917600-76917750	A549	lung:	n/a	n/a
37	CTCF	chr15:76935160-76935310	HPAF	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
38	CTCF	chr15:76935160-76935310	HVMF	connective:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
39	CTCF	chr15:76935125-76935297	Spleen_OC	spleen:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
40	CTCF	chr15:76974583-76974596	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:76917740-76917890	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr15:76935116-76935283	Lung_OC	lung:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
43	CTCF	chr15:76935240-76935390	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr15:76935100-76935250	GM12871	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
45	CTCF	chr15:76917720-76917870	GM12869	blood:	n/a	n/a
46	CTCF	chr15:76917740-76917890	A549	lung:	n/a	n/a
47	CTCF	chr15:76917711-76917861	GM12878	blood:	n/a	n/a
48	CTCF	chr15:76935140-76935290	GM12878	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
49	CTCF	chr15:76935260-76935410	A549	lung:	n/a	n/a
50	CTCF	chr15:76935180-76935330	AG10803	skin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229

No.	Distal block	Cell Line	Cell type
1	chr15:76934897..76935640-chr15:77158999..77159764,3	MCF-7	breast:
2	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
3	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
4	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
5	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
6	chr15:76934737..76935336-chr15:77133237..77133799,2	MCF-7	breast:
7	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
8	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
9	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:
10	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
11	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:

Variant related genes	Relation type
SCAPER	TF binding region

Extended variants
information (count: 2393 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2393 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2083762	chr15:76907376-76907377	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190993133	chr15:76907391-76907392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183650178	chr15:76907393-76907394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74544557	chr15:76907394-76907395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562303382	chr15:76907465-76907466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186585287	chr15:76907523-76907524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372303848	chr15:76907553-76907554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541253461	chr15:76907554-76907555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182870225	chr15:76907555-76907556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187241170	chr15:76907558-76907559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140483369	chr15:76907575-76907576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564501208	chr15:76907601-76907602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73457048	chr15:76907644-76907645	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144449473	chr15:76907678-76907679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571636602	chr15:76907697-76907698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532689625	chr15:76907709-76907710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145617637	chr15:76907712-76907713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148494912	chr15:76907724-76907725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142696855	chr15:76907731-76907732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548028992	chr15:76907741-76907742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372495479	chr15:76907743-76907744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2439987	chr15:76907791-76907792	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138517413	chr15:76907820-76907821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200095613	chr15:76907831-76907832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs202090626	chr15:76907833-76907834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200914871	chr15:76907834-76907835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2468119	chr15:76907841-76907842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568443290	chr15:76907871-76907872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536684948	chr15:76907899-76907900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533387212	chr15:76907909-76907910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558791568	chr15:76907924-76907925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577179177	chr15:76907925-76907926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546983130	chr15:76907926-76907927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370174931	chr15:76907932-76907933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553161126	chr15:76907949-76907950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12440151	chr15:76907992-76907993	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs529343915	chr15:76908006-76908007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561265434	chr15:76908018-76908019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372609315	chr15:76908053-76908054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576369611	chr15:76908054-76908055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548955454	chr15:76908083-76908084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543425307	chr15:76908085-76908086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191367286	chr15:76908107-76908108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113711681	chr15:76908145-76908146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371837630	chr15:76908147-76908148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375004451	chr15:76908160-76908161	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61031189	chr15:76908161-76908162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576333590	chr15:76908176-76908177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547689715	chr15:76908183-76908184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534282369	chr15:76908184-76908185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
4	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
5	chr15:76901000-76917200	Weak transcription	Gastric	stomach
6	chr15:76902600-76907400	Weak transcription	Fetal Stomach	stomach
7	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:76902800-76926400	Weak transcription	Dnd41	blood
10	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
11	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:76904000-76908200	Weak transcription	Primary T cells from cord blood	blood
14	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:76904400-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:76904400-76923600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
18	chr15:76905000-76907600	Weak transcription	Lung	lung
19	chr15:76905000-76941000	Weak transcription	Ovary	ovary
20	chr15:76905200-76908200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:76905400-76908600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:76905800-76909800	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:76905800-76915800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:76906000-76919000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:76906200-76910000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:76906400-76908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:76906400-76913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:76906400-76917600	Weak transcription	Thymus	Thymus
30	chr15:76906600-76909600	Weak transcription	Liver	Liver
31	chr15:76906600-76918600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr15:76906800-76917400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:76907400-76907800	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr15:76907400-76907800	ZNF genes & repeats	Fetal Stomach	stomach
35	chr15:76907400-76908200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr15:76907600-76908000	ZNF genes & repeats	Lung	lung
37	chr15:76907600-76909600	Weak transcription	Brain Substantia Nigra	brain
38	chr15:76907800-76909600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:76907800-76917000	Weak transcription	Fetal Stomach	stomach
40	chr15:76907800-76917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:76908000-76918200	Weak transcription	Stomach Mucosa	stomach
42	chr15:76908200-76909800	Weak transcription	Fetal Intestine Small	intestine
43	chr15:76908200-76911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:76908600-76928200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:76908800-76928400	Weak transcription	Psoas Muscle	Psoas
46	chr15:76909000-76917400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:76909400-76917000	Weak transcription	Fetal Intestine Large	intestine
48	chr15:76909600-76910000	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr15:76909600-76910200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr15:76909600-76910200	ZNF genes & repeats	Adipose Nuclei	Adipose

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