Variant report

Variant	nsv979066
Chromosome Location	chr2:97715517-97722043
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	chr2:97722000-97722150	GM12864	blood:	n/a	n/a
2	CTCF	chr2:97719877-97720033	LNCaP	prostate:	n/a	n/a
3	CTCF	chr2:97721980-97722130	GM12868	blood:	n/a	n/a
4	CTCF	chr2:97721960-97722110	GM12865	blood:	n/a	n/a
5	CTCF	chr2:97719905-97720006	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:97721940-97722090	A549	lung:	n/a	n/a
7	CTCF	chr2:97722020-97722170	GM12875	blood:	n/a	n/a
8	CTCF	chr2:97719867-97720037	Medullo	brain:	n/a	n/a
9	CTCF	chr2:97719768-97720051	A549	lung:	n/a	n/a
10	CTCF	chr2:97721980-97722130	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr2:97721980-97722130	HCT-116	colon:	n/a	n/a
12	CTCF	chr2:97722000-97722150	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:97722000-97722150	HEK293	kidney:	n/a	n/a
14	CTCF	chr2:97722040-97722190	MCF-7	breast:	n/a	n/a
15	EBF1	chr2:97715816-97716075	GM12878	blood:	n/a	n/a
16	FOSL2	chr2:97720775-97721010	HepG2	liver:	n/a	n/a
17	MAFF	chr2:97721008-97721118	HepG2	liver:	n/a	chr2:97721088-97721106
18	MAFK	chr2:97720990-97721107	HepG2	liver:	n/a	n/a
19	PAX5	chr2:97715804-97716078	GM12878	blood:	n/a	n/a
20	PAX5	chr2:97715753-97716084	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:97715727-97716234	Raji	blood:	n/a	n/a
22	POLR2A	chr2:97718474-97718927	SK-N-MC	brain:	n/a	n/a
23	POU2F2	chr2:97715524-97716179	GM12891	blood:	n/a	chr2:97715940-97715950 chr2:97715936-97715957 chr2:97715941-97715952 chr2:97715942-97715949 chr2:97715939-97715952 chr2:97715940-97715950 chr2:97715942-97715950 chr2:97715938-97715953 chr2:97715939-97715951 chr2:97715941-97715950 chr2:97715939-97715953 chr2:97715941-97715951 chr2:97715937-97715955
24	POU2F2	chr2:97715602-97716226	GM12891	blood:	n/a	chr2:97715940-97715950 chr2:97715936-97715957 chr2:97715941-97715952 chr2:97715942-97715949 chr2:97715939-97715952 chr2:97715940-97715950 chr2:97715942-97715950 chr2:97715938-97715953 chr2:97715939-97715951 chr2:97715941-97715950 chr2:97715939-97715953 chr2:97715941-97715951 chr2:97715937-97715955
25	POU2F2	chr2:97715577-97716134	GM12878	blood:	n/a	chr2:97715940-97715950 chr2:97715936-97715957 chr2:97715941-97715952 chr2:97715942-97715949 chr2:97715939-97715952 chr2:97715940-97715950 chr2:97715942-97715950 chr2:97715938-97715953 chr2:97715939-97715951 chr2:97715941-97715950 chr2:97715939-97715953 chr2:97715941-97715951 chr2:97715937-97715955
26	SIN3AK20	chr2:97719227-97719368	HepG2	liver:	n/a	n/a
27	USF1	chr2:97719219-97719379	HepG2	liver:	n/a	chr2:97719306-97719317
28	USF1	chr2:97719219-97719337	HepG2	liver:	n/a	chr2:97719306-97719317
29	ZBTB33	chr2:97715501-97715786	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36-7	chr2:97716466-97716765	NONHSAT072602

Variant related genes	Relation type
IGKV1OR2-3	TF binding region
IGKV2OR2-2	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575053210	chr2:97715523-97715524	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560365096	chr2:97715549-97715550	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540193975	chr2:97715606-97715607	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527495976	chr2:97715640-97715641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553753145	chr2:97715895-97715896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141653360	chr2:97715896-97715897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576872019	chr2:97715898-97715899	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545881525	chr2:97715899-97715900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201031969	chr2:97715931-97715932	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530708055	chr2:97715933-97715934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544095255	chr2:97715956-97715957	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561205194	chr2:97715969-97715970	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150537050	chr2:97716016-97716017	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2698454	chr2:97716037-97716038	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs552305610	chr2:97716091-97716092	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566474393	chr2:97716100-97716101	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532186214	chr2:97716118-97716119	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372789358	chr2:97716126-97716127	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552286693	chr2:97716132-97716133	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs2315169	chr2:97716138-97716139	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538406849	chr2:97716140-97716141	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555847448	chr2:97716154-97716155	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554873809	chr2:97716165-97716166	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568689844	chr2:97716167-97716168	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2872845	chr2:97716168-97716169	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2315168	chr2:97716181-97716182	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576808323	chr2:97716206-97716207	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1148587	chr2:97716214-97716215	Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs556590758	chr2:97716245-97716246	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576472496	chr2:97716248-97716249	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544357888	chr2:97716260-97716261	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560931736	chr2:97716292-97716293	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2315167	chr2:97716391-97716392	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540525644	chr2:97716399-97716400	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149302102	chr2:97716410-97716411	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532124674	chr2:97716428-97716429	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552224081	chr2:97716440-97716441	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2315166	chr2:97716470-97716471	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs370120938	chr2:97716478-97716479	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs117746229	chr2:97716488-97716489	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs2872844	chr2:97716511-97716512	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2315165	chr2:97716518-97716519	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2315164	chr2:97716523-97716524	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs534157266	chr2:97716563-97716564	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547661158	chr2:97716608-97716609	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs368044846	chr2:97716652-97716653	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs570829702	chr2:97716678-97716679	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539411305	chr2:97716699-97716700	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs556295064	chr2:97716708-97716709	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576438083	chr2:97716732-97716733	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97710400-97717400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:97715400-97716000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:97716000-97716400	Active TSS	Primary B cells from cord blood	blood
4	chr2:97716400-97716600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:97716600-97717200	Enhancers	Primary B cells from cord blood	blood

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