Variant report

Variant	nsv904412
Chromosome Location	chr15:76910031-77085283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:785)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	ATF2	chr15:77003703-77004047	GM12878	blood:	n/a	n/a
3	ATF2	chr15:77003716-77004122	GM12878	blood:	n/a	n/a
4	BATF	chr15:76946679-76946925	GM12878	blood:	n/a	n/a
5	BATF	chr15:76996451-76996676	GM12878	blood:	n/a	n/a
6	BATF	chr15:76946672-76946896	GM12878	blood:	n/a	n/a
7	BATF	chr15:76996436-76996655	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:77003630-77004113	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:76946684-76946864	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:77003618-77004150	GM12878	blood:	n/a	n/a
11	BCLAF1	chr15:77003650-77004026	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:76946680-76946809	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:77003580-77004137	GM12878	blood:	n/a	n/a
14	BRCA1	chr15:76969668-76969722	H1-hESC	embryonic stem cell:	n/a	n/a
15	CBX3	chr15:77055938-77056220	K562	blood:	n/a	n/a
16	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
17	CBX3	chr15:77069334-77069671	K562	blood:	n/a	n/a
18	CBX3	chr15:77055892-77056260	K562	blood:	n/a	n/a
19	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
20	CBX3	chr15:77069395-77069686	K562	blood:	n/a	n/a
21	CEBPB	chr15:77028334-77028569	A549	lung:	n/a	n/a
22	CEBPB	chr15:76996963-76996987	A549	lung:	n/a	n/a
23	CEBPB	chr15:76996894-76997016	HepG2	liver:	n/a	n/a
24	CEBPB	chr15:76960844-76961108	A549	lung:	n/a	n/a
25	CEBPB	chr15:76963560-76963674	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr15:77052043-77052208	A549	lung:	n/a	n/a
27	CEBPB	chr15:77048788-77049111	IMR90	lung:	n/a	n/a
28	CEBPB	chr15:76960889-76961156	HepG2	liver:	n/a	n/a
29	CEBPB	chr15:76996796-76997148	HepG2	liver:	n/a	n/a
30	CEBPB	chr15:76953585-76953673	A549	lung:	n/a	n/a
31	CHD1	chr15:77003681-77004001	GM12878	blood:	n/a	n/a
32	CHD2	chr15:76917763-76917765	HepG2	liver:	n/a	n/a
33	CHD2	chr15:77003655-77004118	GM12878	blood:	n/a	n/a
34	CTCF	chr15:76917314-76917373	Fibrobl	skin:	n/a	n/a
35	CTCF	chr15:77024722-77024983	A549	lung:	n/a	n/a
36	CTCF	chr15:76917720-76917870	GM12878	blood:	n/a	n/a
37	CTCF	chr15:76935173-76935272	K562	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
38	CTCF	chr15:77024725-77024959	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr15:76935152-76935268	GM10248	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
40	CTCF	chr15:76935120-76935270	GM12874	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
41	CTCF	chr15:76935220-76935370	GM06990	blood:	n/a	n/a
42	CTCF	chr15:76995580-76995730	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr15:76917671-76917915	A549	lung:	n/a	n/a
44	CTCF	chr15:77024760-77024910	GM12874	blood:	n/a	n/a
45	CTCF	chr15:76935220-76935370	GM12865	blood:	n/a	n/a
46	CTCF	chr15:76935300-76935450	HCM	heart:	n/a	chr15:76935430-76935446
47	CTCF	chr15:77024860-77025010	GM06990	blood:	n/a	n/a
48	CTCF	chr15:76935126-76935339	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
49	CTCF	chr15:77024756-77024961	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr15:76917792-76917830	HUVEC	blood vessel:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77052021..77055015-chr15:77055082..77056903,3	K562	blood:
2	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:
3	chr15:77044758..77046845-chr15:77050241..77052508,2	MCF-7	breast:
4	chr15:77051074..77052943-chr15:77058188..77061067,2	K562	blood:
5	chr15:76978559..76980160-chr15:76982250..76984451,2	MCF-7	breast:
6	chr15:77024348..77024882-chr15:77132939..77133789,2	MCF-7	breast:
7	chr15:76997314..76998845-chr15:77007470..77009179,2	MCF-7	breast:
8	chr15:77017797..77020777-chr8:43093705..43096561,2	K562	blood:
9	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
10	chr10:94276542..94277057-chr15:77040784..77041284,2	MCF-7	breast:
11	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
12	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
13	chr15:76934737..76935336-chr15:77133237..77133799,2	MCF-7	breast:
14	chr15:77083317..77084988-chr15:77087176..77089675,2	K562	blood:
15	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
16	chr15:77051074..77052943-chr15:77058188..77061067,2	K562	blood:
17	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
18	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
19	chr15:77022336..77024619-chr15:77130860..77133173,2	MCF-7	breast:
20	chr15:77052021..77055015-chr15:77055082..77056903,3	K562	blood:
21	chr15:76978559..76980160-chr15:76982250..76984451,2	MCF-7	breast:
22	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:
23	chr15:77044758..77046845-chr15:77050241..77052508,2	MCF-7	breast:
24	chr15:76482009..76484403-chr15:77035735..77037455,2	MCF-7	breast:
25	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
26	chr15:76997314..76998845-chr15:77007470..77009179,2	MCF-7	breast:
27	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
28	chr15:76934897..76935640-chr15:77158999..77159764,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCN2-1	chr15:77028982-77029321	NONHSAT047408

No data

Variant related genes	Relation type
SCAPER	TF binding region
RN7SKP217	TF binding region
ENSG00000169758	chromatin interactions

Extended variants
information (count: 6296 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6296 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1867197	chr15:76910031-76910032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77154970	chr15:76910044-76910045	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562571843	chr15:76910045-76910046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374954048	chr15:76910070-76910071	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531416317	chr15:76910078-76910079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535690890	chr15:76910154-76910155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184599111	chr15:76910161-76910162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545907152	chr15:76910172-76910173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150759752	chr15:76910220-76910221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139153596	chr15:76910262-76910263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149949111	chr15:76910320-76910321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568057531	chr15:76910329-76910330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs367648668	chr15:76910358-76910359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188669040	chr15:76910491-76910492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372928826	chr15:76910508-76910509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568946538	chr15:76910522-76910523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539280679	chr15:76910625-76910626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558602270	chr15:76910653-76910654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570580667	chr15:76910684-76910685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534809740	chr15:76910688-76910689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180757973	chr15:76910700-76910701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574781871	chr15:76910789-76910790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141530710	chr15:76910790-76910791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571210391	chr15:76910807-76910808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73457057	chr15:76910848-76910849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76953438	chr15:76910858-76910859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116968130	chr15:76910879-76910880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564691383	chr15:76910899-76910900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145290020	chr15:76910925-76910926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567758683	chr15:76910926-76910927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528152683	chr15:76910975-76910976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185248864	chr15:76910977-76910978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188201075	chr15:76910990-76910991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528922265	chr15:76911058-76911059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550583942	chr15:76911203-76911204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181932897	chr15:76911273-76911274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533830838	chr15:76911289-76911290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112163031	chr15:76911304-76911305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368369652	chr15:76911306-76911307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533077462	chr15:76911340-76911341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372305055	chr15:76911377-76911378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113329121	chr15:76911475-76911476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145118576	chr15:76911486-76911487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534751156	chr15:76911508-76911509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139496181	chr15:76911553-76911554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568356413	chr15:76911611-76911612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187574627	chr15:76911645-76911646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547028265	chr15:76911660-76911661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567237646	chr15:76911661-76911662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191454069	chr15:76911712-76911713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:2135 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

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	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
4	chr15:76901000-76917200	Weak transcription	Gastric	stomach
5	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr15:76902800-76926400	Weak transcription	Dnd41	blood
8	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
9	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:76904400-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:76904400-76923600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
15	chr15:76905000-76941000	Weak transcription	Ovary	ovary
16	chr15:76905800-76915800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:76906000-76919000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:76906400-76913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:76906400-76917600	Weak transcription	Thymus	Thymus
21	chr15:76906600-76918600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:76906800-76917400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:76907800-76917000	Weak transcription	Fetal Stomach	stomach
24	chr15:76907800-76917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:76908000-76918200	Weak transcription	Stomach Mucosa	stomach
26	chr15:76908200-76911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:76908600-76928200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:76908800-76928400	Weak transcription	Psoas Muscle	Psoas
29	chr15:76909000-76917400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:76909400-76917000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:76909600-76910200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr15:76909600-76910200	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr15:76909600-76910200	ZNF genes & repeats	Liver	Liver
34	chr15:76909600-76910200	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr15:76909600-76910200	Strong transcription	Left Ventricle	heart
36	chr15:76909600-76910200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr15:76909800-76910200	ZNF genes & repeats	Brain Angular Gyrus	brain
38	chr15:76909800-76910200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr15:76909800-76910200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr15:76909800-76910200	ZNF genes & repeats	Spleen	Spleen
41	chr15:76909800-76910400	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr15:76909800-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:76909800-76910600	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr15:76909800-76917600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:76910000-76910200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr15:76910000-76910200	ZNF genes & repeats	Esophagus	oesophagus
47	chr15:76910000-76910400	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr15:76910000-76915400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:76910000-76917000	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:76910000-76964200	Weak transcription	Brain Hippocampus Middle	brain

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