Variant report

Variant	nsv565236
Chromosome Location	chr14:79156377-79165596
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	CTCF	chr14:79163860-79164010	HRPEpiC	eye:	n/a	chr14:79163887-79163908
2	CTCF	chr14:79163840-79163990	HPAF	blood vessel:	n/a	chr14:79163887-79163908
3	CTCF	chr14:79163800-79163950	HepG2	liver:	n/a	chr14:79163887-79163908
4	CTCF	chr14:79163820-79163970	HFF	foreskin:	n/a	chr14:79163887-79163908
5	CTCF	chr14:79163713-79164144	MCF-7	breast:	n/a	chr14:79163887-79163908
6	CTCF	chr14:79163840-79163990	BJ	skin:	n/a	chr14:79163887-79163908
7	CTCF	chr14:79163820-79163970	HCM	heart:	n/a	chr14:79163887-79163908
8	CTCF	chr14:79163722-79164105	K562	blood:	n/a	chr14:79163887-79163908
9	CTCF	chr14:79163840-79163990	HA-sp	spinal cord:	n/a	chr14:79163887-79163908
10	CTCF	chr14:79163780-79163930	GM12869	blood:	n/a	chr14:79163887-79163908
11	CTCF	chr14:79163790-79164024	Hela-S3	cervix:	n/a	chr14:79163887-79163908
12	CTCF	chr14:79163800-79163950	HMEC	breast:	n/a	chr14:79163887-79163908
13	CTCF	chr14:79163840-79163990	HCPEpiC	choroid plexus:	n/a	chr14:79163887-79163908
14	CTCF	chr14:79164180-79164330	GM12873	blood:	n/a	n/a
15	CTCF	chr14:79163820-79163970	HA-sp	spinal cord:	n/a	chr14:79163887-79163908
16	CTCF	chr14:79163820-79163970	WERI-Rb-1	eye:	n/a	chr14:79163887-79163908
17	CTCF	chr14:79163800-79163950	HCT-116	colon:	n/a	chr14:79163887-79163908
18	CTCF	chr14:79163840-79163990	A549	lung:	n/a	chr14:79163887-79163908
19	CTCF	chr14:79163860-79164010	HRE	kidney:	n/a	chr14:79163887-79163908
20	CTCF	chr14:79163800-79163950	HCPEpiC	choroid plexus:	n/a	chr14:79163887-79163908
21	CTCF	chr14:79163820-79163970	AG09319	gingival:	n/a	chr14:79163887-79163908
22	CTCF	chr14:79163580-79163730	A549	lung:	n/a	n/a
23	CTCF	chr14:79163840-79163990	RPTEC	kidney:	n/a	chr14:79163887-79163908
24	CTCF	chr14:79163780-79163930	HVMF	connective:	n/a	chr14:79163887-79163908
25	CTCF	chr14:79163820-79163970	RPTEC	kidney:	n/a	chr14:79163887-79163908
26	CTCF	chr14:79163839-79163983	Spleen_OC	spleen:	n/a	chr14:79163887-79163908
27	CTCF	chr14:79163840-79163990	HUVEC	blood vessel:	n/a	chr14:79163887-79163908
28	CTCF	chr14:79163860-79164010	GM12873	blood:	n/a	chr14:79163887-79163908
29	CTCF	chr14:79163836-79163985	ProgFib	skin:	n/a	chr14:79163887-79163908
30	CTCF	chr14:79163840-79163990	GM12869	blood:	n/a	chr14:79163887-79163908
31	CTCF	chr14:79163800-79163950	HFF-Myc	foreskin:	n/a	chr14:79163887-79163908
32	CTCF	chr14:79163800-79163950	HPF	lung:	n/a	chr14:79163887-79163908
33	CTCF	chr14:79163820-79163970	GM12864	blood:	n/a	chr14:79163887-79163908
34	CTCF	chr14:79163840-79163990	SAEC	small airway:	n/a	chr14:79163887-79163908
35	CTCF	chr14:79163789-79164000	Pancreas_OC	pancreas:	n/a	chr14:79163887-79163908
36	CTCF	chr14:79163731-79164049	MCF-7	breast:	n/a	chr14:79163887-79163908
37	CTCF	chr14:79163800-79163950	Hela-S3	cervix:	n/a	chr14:79163887-79163908
38	CTCF	chr14:79163820-79163970	HAc	cerebellar:	n/a	chr14:79163887-79163908
39	CTCF	chr14:79163746-79164087	H1-hESC	embryonic stem cell:	n/a	chr14:79163887-79163908
40	CTCF	chr14:79163800-79163950	HUVEC	blood vessel:	n/a	chr14:79163887-79163908
41	CTCF	chr14:79163900-79164050	GM12873	blood:	n/a	n/a
42	CTCF	chr14:79163800-79163950	HBMEC	blood vessel:	n/a	chr14:79163887-79163908
43	CTCF	chr14:79163754-79163986	HepG2	liver:	n/a	chr14:79163887-79163908
44	CTCF	chr14:79163820-79163970	GM06990	blood:	n/a	chr14:79163887-79163908
45	CTCF	chr14:79163800-79163950	GM12874	blood:	n/a	chr14:79163887-79163908
46	CTCF	chr14:79163768-79164026	GM12878	blood:	n/a	chr14:79163887-79163908
47	CTCF	chr14:79163708-79164100	GM12878	blood:	n/a	chr14:79163887-79163908
48	CTCF	chr14:79163820-79163970	HMF	breast:	n/a	chr14:79163887-79163908
49	CTCF	chr14:79163822-79163967	SK-N-SH_RA	brain:	n/a	chr14:79163887-79163908
50	CTCF	chr14:79163840-79163990	GM12872	blood:	n/a	chr14:79163887-79163908

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:79162188-79162238	ProgFib	skin:	n/a
2	chr14:79162188-79162238	RPTEC	kidney:	n/a
3	chr14:79162188-79162238	Hela-S3	cervix:	n/a
4	chr14:79162188-79162238	HCT-116	colon:	n/a
5	chr14:79162188-79162238	IMR90	lung:	fetal
6	chr14:79162188-79162238	T-47D	breast:	n/a
7	chr14:79162188-79162238	GM06990	blood:	n/a
8	chr14:79162188-79162238	AoSMC	blood vessel:	n/a
9	chr14:79162188-79162238	K562	blood:	n/a
10	chr14:79162188-79162238	CMK	blood:	n/a
11	chr14:79162188-79162238	HEK293	kidney:	embryo
12	chr14:79162188-79162238	HUVEC	blood vessel:	n/a
13	chr14:79162188-79162238	AG04450	lung:	fetal
14	chr14:79162188-79162238	AG09319	gingival:	n/a
15	chr14:79162188-79162238	SK-N-SH	brain:	n/a
16	chr14:79162188-79162238	HAEpiC	amniotic membrane:	n/a
17	chr14:79162188-79162238	LNCaP	prostate:	n/a
18	chr14:79162188-79162238	AG04449	skin:	fetal
19	chr14:79162188-79162238	ECC-1	luminal epithelium:	n/a
20	chr14:79162188-79162238	A549	lung:	n/a
21	chr14:79162188-79162238	BJ	skin:	n/a
22	chr14:79162188-79162238	MCF10A-Er-Src	breast:	n/a
23	chr14:79162188-79162238	HCM	heart:	n/a
24	chr14:79162188-79162238	HRCEpiC	kidney:	n/a
25	chr14:79162188-79162238	HMEC	breast:	n/a
26	chr14:79162188-79162238	NHBE	bronchial:	n/a
27	chr14:79162188-79162238	HCPEpiC	choroid plexus:	n/a
28	chr14:79162188-79162238	HEEpiC	esophagus:	n/a
29	chr14:79162188-79162238	GM12892	blood:	n/a
30	chr14:79162188-79162238	HCF	heart:	n/a
31	chr14:79162188-79162238	NT2-D1	testis:	n/a
32	chr14:79162188-79162238	HIPEpiC	eye:	n/a
33	chr14:79162188-79162238	U87	brain:	n/a
34	chr14:79162188-79162238	BE2_C	brain:	n/a
35	chr14:79162188-79162238	SKMC	muscle:	n/a
36	chr14:79162188-79162238	HL-60	blood:	n/a
37	chr14:79162188-79162238	ovcar-3	ovarian:	n/a
38	chr14:79162188-79162238	HNPCEpiC	eye:	n/a
39	chr14:79162188-79162238	MCF-7	breast:	n/a
40	chr14:79162188-79162238	Caco-2	colon:	n/a
41	chr14:79162188-79162238	NHDF-neo	bronchial:	n/a
42	chr14:79162188-79162238	SK-N-MC	brain:	n/a
43	chr14:79162188-79162238	SAEC	small airway:	n/a
44	chr14:79162188-79162238	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:79162188-79162238	PFSK-1	brain:	n/a
46	chr14:79162188-79162238	GM19239	blood:	n/a
47	chr14:79162188-79162238	GM12878	blood:	n/a
48	chr14:79162188-79162238	HepG2	liver:	n/a
49	chr14:79162188-79162238	NB4	blood:	n/a
50	chr14:79162188-79162238	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78488036..78488630-chr14:79163630..79164376,2	K562	blood:
2	chr14:79064098..79065061-chr14:79163439..79164257,3	MCF-7	breast:
3	chr14:78914156..78915026-chr14:79163475..79164182,2	MCF-7	breast:
4	chr14:78630320..78630924-chr14:79163432..79164245,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNW1-2	chr14:79161664-79162115	ENSG00000258719.1
2	lnc-SNW1-2	chr14:79164218-79164465	ENSG00000258719.1

Variant related genes	Relation type
NRXN3	TF binding region
ENSG00000258719	TF binding region
NRXN3	CpG island
ENSG00000258719	CpG island

Extended variants
information (count: 200 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186061956	chr14:79157030-79157031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7143966	chr14:79157040-79157041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs141736028	chr14:79157045-79157046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192090384	chr14:79157056-79157057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544174623	chr14:79157059-79157060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574054928	chr14:79157069-79157070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536653154	chr14:79157095-79157096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375696470	chr14:79157123-79157124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553465281	chr14:79157148-79157149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573366215	chr14:79157172-79157173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150467325	chr14:79157186-79157187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113616966	chr14:79157273-79157274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575362425	chr14:79157287-79157288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544464302	chr14:79157307-79157308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113039503	chr14:79157309-79157310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566744161	chr14:79157362-79157363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17108056	chr14:79157428-79157429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530171705	chr14:79157430-79157431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529601965	chr14:79157442-79157443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375890781	chr14:79157452-79157453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149219004	chr14:79157465-79157466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532213217	chr14:79157495-79157496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113276094	chr14:79157502-79157503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143216250	chr14:79157504-79157505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138821839	chr14:79157533-79157534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183271110	chr14:79157553-79157554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551251150	chr14:79157654-79157655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368255176	chr14:79157690-79157691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12882483	chr14:79157727-79157728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536987551	chr14:79157815-79157816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553401815	chr14:79157845-79157846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574546253	chr14:79157861-79157862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142008631	chr14:79157870-79157871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558837315	chr14:79157930-79157931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554201729	chr14:79158044-79158045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539085782	chr14:79158050-79158051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187553688	chr14:79158064-79158065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146325813	chr14:79158127-79158128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138353897	chr14:79158183-79158184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143532602	chr14:79159618-79159619	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576142424	chr14:79159627-79159628	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541917441	chr14:79159685-79159686	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191234404	chr14:79159718-79159719	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148040006	chr14:79159719-79159720	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184991731	chr14:79159756-79159757	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564611742	chr14:79161492-79161493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146874868	chr14:79161532-79161533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377068253	chr14:79161568-79161569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs140744287	chr14:79161573-79161574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs6574464	chr14:79161622-79161623	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79157000-79158200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:79157000-79158200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:79157200-79158200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:79157600-79158000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:79157800-79158200	Enhancers	NH-A	brain
6	chr14:79159600-79159800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:79164000-79164800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:79164200-79164800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:79164200-79165000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:79164400-79165000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:79164400-79165000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:79164800-79167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:79165000-79176800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:79165000-79181000	Weak transcription	Brain Inferior Temporal Lobe	brain

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