Variant report

Variant	nsv984079
Chromosome Location	chr15:59816507-59823194
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	BACH1	chr15:59821131-59821513	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr15:59821067-59821470	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr15:59821147-59821435	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr15:59821151-59821422	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:59821239-59821502	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr15:59821130-59821404	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr15:59821141-59821451	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr15:59821220-59821370	Caco-2	colon:	n/a	chr15:59821284-59821297
9	CTCF	chr15:59821220-59821370	GM12874	blood:	n/a	chr15:59821284-59821297
10	CTCF	chr15:59821148-59821440	MCF-7	breast:	n/a	chr15:59821284-59821297
11	CTCF	chr15:59821220-59821370	SK-N-SH_RA	brain:	n/a	chr15:59821284-59821297
12	CTCF	chr15:59821220-59821370	GM12865	blood:	n/a	chr15:59821284-59821297
13	CTCF	chr15:59821180-59821330	BE2_C	brain:	n/a	chr15:59821284-59821297
14	CTCF	chr15:59821180-59821330	GM12870	blood:	n/a	chr15:59821284-59821297
15	CTCF	chr15:59821220-59821370	GM12866	blood:	n/a	chr15:59821284-59821297
16	CTCF	chr15:59816640-59816699	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr15:59821240-59821390	HA-sp	spinal cord:	n/a	chr15:59821284-59821297
18	CTCF	chr15:59821220-59821370	HMF	breast:	n/a	chr15:59821284-59821297
19	CTCF	chr15:59821161-59821412	Hela-S3	cervix:	n/a	chr15:59821284-59821297
20	CTCF	chr15:59821094-59821476	SK-N-SH_RA	brain:	n/a	chr15:59821284-59821297
21	CTCF	chr15:59821200-59821350	AoAF	blood vessel:	n/a	chr15:59821284-59821297
22	CTCF	chr15:59821200-59821350	GM12869	blood:	n/a	chr15:59821284-59821297
23	CTCF	chr15:59821220-59821370	Hela-S3	cervix:	n/a	chr15:59821284-59821297
24	CTCF	chr15:59821220-59821370	AG10803	skin:	n/a	chr15:59821284-59821297
25	CTCF	chr15:59821220-59821370	GM12875	blood:	n/a	chr15:59821284-59821297
26	CTCF	chr15:59821180-59821330	HAc	cerebellar:	n/a	chr15:59821284-59821297
27	CTCF	chr15:59821162-59821454	HUVEC	blood vessel:	n/a	chr15:59821284-59821297
28	CTCF	chr15:59821280-59821430	HCT-116	colon:	n/a	chr15:59821284-59821297
29	CTCF	chr15:59821079-59821384	A549	lung:	n/a	chr15:59821284-59821297
30	CTCF	chr15:59821220-59821370	HCFaa	heart:	n/a	chr15:59821284-59821297
31	CTCF	chr15:59821700-59821850	AG04450	lung:	n/a	n/a
32	CTCF	chr15:59821200-59821350	HBMEC	blood vessel:	n/a	chr15:59821284-59821297
33	CTCF	chr15:59821164-59821425	Lung_OC	lung:	n/a	chr15:59821284-59821297
34	CTCF	chr15:59821220-59821370	HFF-Myc	foreskin:	n/a	chr15:59821284-59821297
35	CTCF	chr15:59821116-59821523	MCF-7	breast:	n/a	chr15:59821284-59821297
36	CTCF	chr15:59821580-59821730	GM12864	blood:	n/a	n/a
37	CTCF	chr15:59821128-59821451	ECC-1	luminal epithelium:	n/a	chr15:59821284-59821297
38	CTCF	chr15:59821150-59821412	A549	lung:	n/a	chr15:59821284-59821297
39	CTCF	chr15:59821220-59821370	HEEpiC	esophagus:	n/a	chr15:59821284-59821297
40	CTCF	chr15:59821200-59821350	NHEK	skin:	n/a	chr15:59821284-59821297
41	CTCF	chr15:59821092-59821430	ECC-1	luminal epithelium:	n/a	chr15:59821284-59821297
42	CTCF	chr15:59821048-59821497	HepG2	liver:	n/a	chr15:59821284-59821297
43	CTCF	chr15:59821200-59821350	A549	lung:	n/a	chr15:59821284-59821297
44	CTCF	chr15:59821173-59821405	HepG2	liver:	n/a	chr15:59821284-59821297
45	CTCF	chr15:59821200-59821350	AG09309	skin:	n/a	chr15:59821284-59821297
46	CTCF	chr15:59821100-59821440	HepG2	liver:	n/a	chr15:59821284-59821297
47	CTCF	chr15:59821200-59821350	HepG2	liver:	n/a	chr15:59821284-59821297
48	CTCF	chr15:59821240-59821390	HMF	breast:	n/a	chr15:59821284-59821297
49	CTCF	chr15:59821280-59821430	GM12871	blood:	n/a	chr15:59821284-59821297
50	CTCF	chr15:59821280-59821430	MCF-7	breast:	n/a	chr15:59821284-59821297

No.	Distal block	Cell Line	Cell type
1	chr15:59815837..59817433-chr15:59923383..59925258,2	K562	blood:
2	chr15:59397711..59399298-chr15:59819776..59821486,2	K562	blood:
3	chr15:59797880..59799138-chr15:59820448..59821362,3	MCF-7	breast:
4	chr15:58505288..58505802-chr15:59820824..59821742,2	K562	blood:
5	chr15:59821926..59823729-chr15:59948340..59950286,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2A2-5	chr15:59817621-59818080	NONHSAT044173

Variant related genes	Relation type
ENSG00000243780	TF binding region
ENSG00000140307	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537426180	chr15:59816509-59816510	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs555873006	chr15:59816510-59816511	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs140496031	chr15:59816528-59816529	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs189226078	chr15:59816561-59816562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs558060545	chr15:59816597-59816598	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs182327817	chr15:59816628-59816629	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs11857239	chr15:59816633-59816634	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4775175	chr15:59816688-59816689	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs564353930	chr15:59816765-59816766	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs576543632	chr15:59816771-59816772	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs72749179	chr15:59816818-59816819	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562211923	chr15:59816825-59816826	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs529392829	chr15:59816869-59816870	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs190726717	chr15:59816873-59816874	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs559912401	chr15:59816899-59816900	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs533334977	chr15:59816911-59816912	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs180738863	chr15:59816951-59816952	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs145161660	chr15:59816957-59816958	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs185126775	chr15:59816966-59816967	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs549361137	chr15:59816987-59816988	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs567915086	chr15:59816993-59816994	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs535542350	chr15:59817001-59817002	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372600271	chr15:59817011-59817012	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553561591	chr15:59817044-59817045	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572235837	chr15:59817124-59817125	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539630214	chr15:59817129-59817130	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572852119	chr15:59817149-59817150	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113857674	chr15:59817190-59817191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189932390	chr15:59817203-59817204	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28490532	chr15:59817236-59817237	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139362974	chr15:59817237-59817238	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573918114	chr15:59817252-59817253	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541535518	chr15:59817264-59817265	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559571329	chr15:59817272-59817273	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533607753	chr15:59817273-59817274	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551549756	chr15:59817328-59817329	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563683251	chr15:59817335-59817336	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141903832	chr15:59817361-59817362	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143763008	chr15:59817368-59817369	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570998226	chr15:59817410-59817411	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550253000	chr15:59817411-59817412	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113859774	chr15:59817412-59817413	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568061551	chr15:59817423-59817424	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73418923	chr15:59817481-59817482	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547507589	chr15:59817510-59817511	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182708556	chr15:59817519-59817520	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185838881	chr15:59817533-59817534	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539693170	chr15:59817611-59817612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557988110	chr15:59817614-59817615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569827407	chr15:59817620-59817621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59807000-59818000	Enhancers	Primary B cells from peripheral blood	blood
2	chr15:59807200-59816600	Enhancers	Primary B cells from cord blood	blood
3	chr15:59808000-59817600	Weak transcription	Fetal Brain Female	brain
4	chr15:59812600-59818000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:59814400-59817400	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:59814400-59817800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:59814600-59816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:59814600-59817200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:59814600-59817200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr15:59814800-59816600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:59814800-59817000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:59814800-59817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:59815000-59816800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:59815000-59817000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:59815200-59817000	Bivalent Enhancer	Fetal Thymus	thymus
16	chr15:59815200-59817200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr15:59815200-59817600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr15:59815400-59816600	Enhancers	Spleen	Spleen
19	chr15:59815400-59817000	Enhancers	GM12878-XiMat	blood
20	chr15:59815400-59817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:59815400-59817800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr15:59815600-59817000	Weak transcription	Esophagus	oesophagus
23	chr15:59815800-59816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:59816000-59818000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr15:59816200-59816600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:59816200-59816800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:59816200-59817200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr15:59816400-59816600	Enhancers	Primary T cells from cord blood	blood
29	chr15:59816400-59816800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:59816400-59816800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:59816400-59816800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr15:59816400-59817000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr15:59816400-59817000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:59816400-59817000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr15:59816600-59816800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr15:59816600-59817000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:59816600-59817000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:59816800-59817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:59816800-59817000	Enhancers	Primary T cells from cord blood	blood
40	chr15:59816800-59817000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:59816800-59817000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr15:59817000-59817200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:59817000-59817200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:59817000-59817200	Active TSS	HepG2	liver
45	chr15:59817000-59817600	Enhancers	Primary B cells from cord blood	blood
46	chr15:59817000-59818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr15:59817000-59824600	Weak transcription	GM12878-XiMat	blood
48	chr15:59817200-59818000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr15:59817200-59818000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr15:59817200-59820200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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