Variant report

Variant	nsv904413
Chromosome Location	chr15:76923917-76995150
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	chr15:76946679-76946925	GM12878	blood:	n/a	n/a
3	BATF	chr15:76946672-76946896	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:76946684-76946864	GM12878	blood:	n/a	n/a
5	BHLHE40	chr15:76946680-76946809	GM12878	blood:	n/a	n/a
6	BRCA1	chr15:76969668-76969722	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
8	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
9	CEBPB	chr15:76953585-76953673	A549	lung:	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	chr15:76963560-76963674	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr15:76935140-76935290	AoAF	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
14	CTCF	chr15:76935140-76935290	GM12801	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
15	CTCF	chr15:76935125-76935297	Spleen_OC	spleen:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
16	CTCF	chr15:76935120-76935270	HFF	foreskin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
17	CTCF	chr15:76935100-76935250	HA-sp	spinal cord:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
18	CTCF	chr15:76935160-76935310	AG09309	skin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
19	CTCF	chr15:76935120-76935270	GM12878	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
20	CTCF	chr15:76935080-76935230	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
21	CTCF	chr15:76935180-76935330	HRE	kidney:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
22	CTCF	chr15:76935240-76935390	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr15:76935160-76935310	NB4	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
24	CTCF	chr15:76935043-76935399	IMR90	lung:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
25	CTCF	chr15:76935140-76935290	AG09319	gingival:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
26	CTCF	chr15:76935120-76935270	GM12864	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
27	CTCF	chr15:76935126-76935339	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
28	CTCF	chr15:76992501-76992520	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:76935180-76935330	BJ	skin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
30	CTCF	chr15:76935464-76935540	GM20000	blood:	n/a	n/a
31	CTCF	chr15:76935220-76935370	NHEK	skin:	n/a	n/a
32	CTCF	chr15:76935240-76935390	RPTEC	kidney:	n/a	n/a
33	CTCF	chr15:76935500-76935650	NHLF	lung:	n/a	n/a
34	CTCF	chr15:76935100-76935291	SK-N-SH_RA	brain:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
35	CTCF	chr15:76935140-76935290	GM12869	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
36	CTCF	chr15:76935160-76935310	GM12868	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
37	CTCF	chr15:76931672-76931746	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr15:76935152-76935268	GM10248	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
39	CTCF	chr15:76935235-76935259	LNCaP	prostate:	n/a	n/a
40	CTCF	chr15:76935060-76935210	HVMF	connective:	n/a	n/a
41	CTCF	chr15:76935220-76935370	GM12865	blood:	n/a	n/a
42	CTCF	chr15:76978240-76978390	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr15:76935178-76935247	Kidney_OC	kidney:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
44	CTCF	chr15:76935180-76935330	GM12864	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
45	CTCF	chr15:76935060-76935210	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr15:76935378-76935525	MCF-7	breast:	n/a	chr15:76935430-76935446
47	CTCF	chr15:76935140-76935290	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
48	CTCF	chr15:76931752-76931758	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr15:76935300-76935450	HCM	heart:	n/a	chr15:76935430-76935446
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	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
2	chr15:76934897..76935640-chr15:77158999..77159764,3	MCF-7	breast:
3	chr15:76978559..76980160-chr15:76982250..76984451,2	MCF-7	breast:
4	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
5	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
6	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
7	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
8	chr15:76934737..76935336-chr15:77133237..77133799,2	MCF-7	breast:
9	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
10	chr15:76978559..76980160-chr15:76982250..76984451,2	MCF-7	breast:
11	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:
12	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
13	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
14	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:

Variant related genes	Relation type
SCAPER	TF binding region

Extended variants
information (count: 2419 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2439984	chr15:76923917-76923918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564377565	chr15:76923948-76923949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528391476	chr15:76923990-76923991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549921302	chr15:76924070-76924071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546734657	chr15:76924081-76924082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567919543	chr15:76924082-76924083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115057366	chr15:76924095-76924096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs200370166	chr15:76924158-76924159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548309533	chr15:76924166-76924167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2439983	chr15:76924318-76924319	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537421709	chr15:76924349-76924350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112089872	chr15:76924350-76924351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140336181	chr15:76924355-76924356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577425829	chr15:76924377-76924378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535009290	chr15:76924452-76924453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145505006	chr15:76924514-76924515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575127560	chr15:76924529-76924530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541931790	chr15:76924546-76924547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557122175	chr15:76924555-76924556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545506844	chr15:76924570-76924571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575433413	chr15:76924615-76924616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545752947	chr15:76924669-76924670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199905192	chr15:76924698-76924699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563937943	chr15:76924708-76924709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538944019	chr15:76924743-76924744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185462096	chr15:76924749-76924750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs207475606	chr15:76924760-76924761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540209754	chr15:76924766-76924767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561528578	chr15:76924789-76924790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371123744	chr15:76924860-76924861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs60128446	chr15:76924875-76924876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529079928	chr15:76924912-76924913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148035197	chr15:76924941-76924942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373443088	chr15:76924992-76924993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569776825	chr15:76924996-76924997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12438186	chr15:76925022-76925023	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs2439982	chr15:76925071-76925072	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs189524967	chr15:76925093-76925094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535316758	chr15:76925122-76925123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79050919	chr15:76925132-76925133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553738080	chr15:76925137-76925138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111438276	chr15:76925190-76925191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536030008	chr15:76925242-76925243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563819642	chr15:76925245-76925246	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs367847103	chr15:76925251-76925252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181116774	chr15:76925276-76925277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs138129876	chr15:76925292-76925293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554789985	chr15:76925304-76925305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575260836	chr15:76925347-76925348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545585986	chr15:76925348-76925349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
3	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:76902800-76926400	Weak transcription	Dnd41	blood
5	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
8	chr15:76905000-76941000	Weak transcription	Ovary	ovary
9	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:76908600-76928200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:76908800-76928400	Weak transcription	Psoas Muscle	Psoas
12	chr15:76910000-76964200	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:76910200-76926000	Weak transcription	Esophagus	oesophagus
14	chr15:76910200-76941000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:76910200-76959400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:76911400-76990800	Weak transcription	Placenta	Placenta
17	chr15:76911600-76928600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:76914000-76928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:76914000-76928600	Weak transcription	Liver	Liver
20	chr15:76914000-76939800	Weak transcription	Left Ventricle	heart
21	chr15:76914000-76952600	Weak transcription	Brain Angular Gyrus	brain
22	chr15:76914200-76928600	Weak transcription	Adipose Nuclei	Adipose
23	chr15:76915800-76924000	Weak transcription	Fetal Brain Female	brain
24	chr15:76916200-76936200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:76917600-76940800	Weak transcription	Right Ventricle	heart
26	chr15:76918000-76928400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:76918200-76927800	Weak transcription	Lung	lung
28	chr15:76918200-76928200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:76918200-76935400	Weak transcription	Primary T cells from cord blood	blood
30	chr15:76918200-76951600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:76918400-76925400	Weak transcription	Fetal Stomach	stomach
32	chr15:76918400-76925600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:76918600-76926000	Weak transcription	Gastric	stomach
34	chr15:76922400-76926200	Weak transcription	Fetal Lung	lung
35	chr15:76923200-76948400	Weak transcription	Fetal Heart	heart
36	chr15:76924000-76924400	ZNF genes & repeats	Fetal Brain Female	brain
37	chr15:76924200-76928200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:76924200-76928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:76924400-76924600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:76924600-76926800	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr15:76924800-76925600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:76924800-76926200	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr15:76924800-76927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:76925000-76925400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:76925200-76930000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:76925400-76926600	Strong transcription	Fetal Stomach	stomach
47	chr15:76925600-76925800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:76925600-76926000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:76925600-76926000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:76925600-76926600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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