Variant report

Variant	nsv979065
Chromosome Location	chr2:97671450-97702053
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	chr2:97678092-97678206	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:97678106-97678242	K562	blood:	n/a	n/a
3	BCL11A	chr2:97700319-97700488	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:97678094-97678135	K562	blood:	n/a	n/a
5	CEBPB	chr2:97678022-97678244	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:97678080-97678230	GM12871	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
7	CTCF	chr2:97671120-97671458	K562	blood:	n/a	n/a
8	CTCF	chr2:97678060-97678210	GM12873	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
9	CTCF	chr2:97678080-97678230	HCM	heart:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
10	CTCF	chr2:97678040-97678190	HAc	cerebellar:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
11	CTCF	chr2:97678080-97678230	GM12873	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
12	CTCF	chr2:97672301-97672358	GM20000	blood:	n/a	n/a
13	CTCF	chr2:97678018-97678229	Lung_OC	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
14	CTCF	chr2:97677925-97678382	A549	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
15	CTCF	chr2:97678040-97678190	HEK293	kidney:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
16	CTCF	chr2:97678080-97678230	HCPEpiC	choroid plexus:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
17	CTCF	chr2:97678060-97678210	MCF-7	breast:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
18	CTCF	chr2:97678040-97678190	HRE	kidney:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
19	CTCF	chr2:97678000-97678224	SK-N-SH_RA	brain:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
20	CTCF	chr2:97678040-97678190	HCT-116	colon:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
21	CTCF	chr2:97678005-97678236	HUVEC	blood vessel:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
22	CTCF	chr2:97678040-97678190	NHLF	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
23	CTCF	chr2:97678020-97678170	AG04449	skin:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
24	CTCF	chr2:97671136-97671570	K562	blood:	n/a	n/a
25	CTCF	chr2:97678080-97678230	GM06990	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
26	CTCF	chr2:97677989-97678199	ECC-1	luminal epithelium:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
27	CTCF	chr2:97678040-97678190	HPAF	blood vessel:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
28	CTCF	chr2:97678080-97678230	HAc	cerebellar:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
29	CTCF	chr2:97678040-97678190	HVMF	connective:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
30	CTCF	chr2:97678060-97678210	HMF	breast:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
31	CTCF	chr2:97678060-97678210	SK-N-SH_RA	brain:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
32	CTCF	chr2:97678020-97678170	GM12801	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
33	CTCF	chr2:97678028-97678213	GM10266	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
34	CTCF	chr2:97678020-97678170	AG09309	skin:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
35	CTCF	chr2:97673146-97673239	GM13976	blood:	n/a	n/a
36	CTCF	chr2:97678040-97678190	SAEC	small airway:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
37	CTCF	chr2:97670978-97671543	A549	lung:	n/a	n/a
38	CTCF	chr2:97678000-97678150	GM12875	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
39	CTCF	chr2:97678032-97678188	SK-N-SH_RA	brain:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
40	CTCF	chr2:97678080-97678230	HVMF	connective:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
41	CTCF	chr2:97678020-97678170	GM12872	blood:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
42	CTCF	chr2:97678017-97678233	LNCaP	prostate:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
43	CTCF	chr2:97678020-97678170	WERI-Rb-1	eye:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
44	CTCF	chr2:97678060-97678210	Hela-S3	cervix:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
45	CTCF	chr2:97678040-97678190	NHDF-neo	bronchial:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
46	CTCF	chr2:97677717-97678471	A549	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
47	CTCF	chr2:97678080-97678230	HPF	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
48	CTCF	chr2:97678060-97678210	HPAF	blood vessel:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
49	CTCF	chr2:97678060-97678210	A549	lung:	n/a	chr2:97678125-97678146 chr2:97678123-97678141
50	CTCF	chr2:97677729-97678537	SK-N-SH	brain:	n/a	chr2:97678125-97678146 chr2:97678123-97678141

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97679964-97680014	HRCEpiC	kidney:	n/a
2	chr2:97679964-97680014	HRCEpiC	kidney:	n/a
3	chr2:97679964-97680014	RPTEC	kidney:	n/a
4	chr2:97700249-97700299	IMR90	lung:	fetal
5	chr2:97679964-97680014	Jurkat	blood:	n/a
6	chr2:97700249-97700299	CMK	blood:	n/a
7	chr2:97699471-97699521	HEK293	kidney:	embryo
8	chr2:97699471-97699521	HMEC	breast:	n/a
9	chr2:97679964-97680014	NHBE	bronchial:	n/a
10	chr2:97699471-97699521	NHBE	bronchial:	n/a
11	chr2:97679964-97680014	MCF-7	breast:	n/a
12	chr2:97699471-97699521	MCF10A-Er-Src	breast:	n/a
13	chr2:97700249-97700299	GM19239	blood:	n/a
14	chr2:97700249-97700299	NH-A	brain:	n/a
15	chr2:97699471-97699521	U87	brain:	n/a
16	chr2:97699471-97699521	HIPEpiC	eye:	n/a
17	chr2:97679964-97680014	H1-hESC	embryonic stem cell:	embryo
18	chr2:97700249-97700299	SK-N-SH	brain:	n/a
19	chr2:97679964-97680014	GM06990	blood:	n/a
20	chr2:97679964-97680014	HEEpiC	esophagus:	n/a
21	chr2:97700249-97700299	AG04449	skin:	fetal
22	chr2:97699471-97699521	GM12892	blood:	n/a
23	chr2:97699471-97699521	GM06990	blood:	n/a
24	chr2:97700249-97700299	HepG2	liver:	n/a
25	chr2:97700249-97700299	SK-N-MC	brain:	n/a
26	chr2:97699471-97699521	SAEC	small airway:	n/a
27	chr2:97700249-97700299	AG09319	gingival:	n/a
28	chr2:97679964-97680014	NT2-D1	testis:	n/a
29	chr2:97700249-97700299	HMEC	breast:	n/a
30	chr2:97700249-97700299	HNPCEpiC	eye:	n/a
31	chr2:97679964-97680014	GM19239	blood:	n/a
32	chr2:97699471-97699521	PrEC	prostate:	n/a
33	chr2:97699471-97699521	T-47D	breast:	n/a
34	chr2:97699471-97699521	HRPEpiC	eye:	n/a
35	chr2:97700249-97700299	AoSMC	blood vessel:	n/a
36	chr2:97700249-97700299	AG09309	skin:	n/a
37	chr2:97699471-97699521	MCF-7	breast:	n/a
38	chr2:97679964-97680014	AG09309	skin:	n/a
39	chr2:97679964-97680014	ECC-1	luminal epithelium:	n/a
40	chr2:97699471-97699521	HCT-116	colon:	n/a
41	chr2:97679964-97680014	Hela-S3	cervix:	n/a
42	chr2:97679964-97680014	Hepatocyte	liver:	n/a
43	chr2:97699471-97699521	AG09309	skin:	n/a
44	chr2:97700249-97700299	GM06990	blood:	n/a
45	chr2:97699471-97699521	AG09319	gingival:	n/a
46	chr2:97699471-97699521	A549	lung:	n/a
47	chr2:97679964-97680014	U87	brain:	n/a
48	chr2:97699471-97699521	HCF	heart:	n/a
49	chr2:97679964-97680014	HL-60	blood:	n/a
50	chr2:97679964-97680014	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97677657..97678211-chr2:97777841..97778623,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36-9	chr2:97700179-97700443	NONHSAT072600
2	lnc-FAM178B-2	chr2:97696245-97696347	NONHSAT072599
3	lnc-FAM178B-2	chr2:97691718-97692195	NONHSAT072599
4	lnc-FAM178B-1	chr2:97684080-97684341	NONHSAT072598
5	lnc-FAM178B-2	chr2:97697265-97697373	NONHSAT072599
6	lnc-FAM178B-2	chr2:97693296-97693401	NONHSAT072599
7	lnc-FAM178B-2	chr2:97694949-97695180	NONHSAT072599

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000248134	TF binding region
TRIM43CP	TF binding region
ENSG00000230343	TF binding region
FAM178B	CpG island
ENSG00000248134	CpG island
TRIM43CP	CpG island
ENSG00000230343	CpG island

Extended variants
information (count: 396 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57722007	chr2:97673824-97673825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576716411	chr2:97673939-97673940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191835446	chr2:97673982-97673983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562607869	chr2:97673998-97673999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368080123	chr2:97674064-97674065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531558645	chr2:97674102-97674103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542023860	chr2:97674152-97674153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1796038	chr2:97674168-97674169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183682224	chr2:97674216-97674217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188294322	chr2:97674254-97674255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570830294	chr2:97674293-97674294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549045239	chr2:97674341-97674342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111845433	chr2:97674362-97674363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533138924	chr2:97674423-97674424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371858883	chr2:97674447-97674448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1730106	chr2:97674463-97674464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34905992	chr2:97674480-97674481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569990248	chr2:97674492-97674493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60337859	chr2:97674507-97674508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555531217	chr2:97674517-97674518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567860673	chr2:97674545-97674546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533889443	chr2:97674555-97674556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192376551	chr2:97674571-97674572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576789288	chr2:97674583-97674584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566937203	chr2:97678200-97678201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185928722	chr2:97678220-97678221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528210701	chr2:97678247-97678248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558986328	chr2:97678272-97678273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545095768	chr2:97678280-97678281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1257000	chr2:97678319-97678320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571248233	chr2:97678427-97678428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538545037	chr2:97678435-97678436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368015926	chr2:97678480-97678481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369195987	chr2:97678496-97678497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530466813	chr2:97678503-97678504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371584437	chr2:97678517-97678518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35460642	chr2:97682465-97682466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576875016	chr2:97682472-97682473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116381232	chr2:97682572-97682573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190577086	chr2:97682578-97682579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533653184	chr2:97682691-97682692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146882124	chr2:97682730-97682731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561229535	chr2:97682771-97682772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570479335	chr2:97682781-97682782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181497581	chr2:97682840-97682841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573114968	chr2:97682870-97682871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556528279	chr2:97682874-97682875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569952141	chr2:97682877-97682878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535683746	chr2:97682931-97682932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1256996	chr2:97682954-97682955	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97673800-97674600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr2:97678200-97678600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:97682400-97683000	Enhancers	Brain Substantia Nigra	brain
4	chr2:97682600-97682800	Enhancers	Brain Anterior Caudate	brain
5	chr2:97687800-97688200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:97687800-97689000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:97687800-97689800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:97688200-97688600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:97688400-97689600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:97688400-97689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:97688400-97689600	Enhancers	Dnd41	blood
12	chr2:97688600-97689600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:97688800-97689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:97688800-97689600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:97688800-97689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:97688800-97689800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:97688800-97690000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:97689000-97689200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:97689200-97689600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:97689200-97689800	Enhancers	HMEC	breast
21	chr2:97689200-97690000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:97689400-97689800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:97689400-97689800	Enhancers	NHEK	skin
24	chr2:97689400-97690000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:97696000-97697400	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:97696400-97696800	Enhancers	GM12878-XiMat	blood
27	chr2:97697000-97697400	Enhancers	GM12878-XiMat	blood
28	chr2:97697400-97702800	Weak transcription	Primary B cells from peripheral blood	blood

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