Variant report

Variant	nsv1011992
Chromosome Location	chr2:76825910-76845414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:76826892-76827267	HepG2	liver:	n/a	n/a
2	BACH1	chr2:76826863-76827150	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr2:76826886-76827145	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:76826921-76827181	K562	blood:	n/a	n/a
5	BHLHE40	chr2:76826935-76827215	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:76826858-76827249	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:76826891-76827167	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr2:76826886-76827202	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:76826960-76827110	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr2:76827000-76827150	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr2:76826900-76827050	HAc	cerebellar:	n/a	n/a
12	CTCF	chr2:76826980-76827130	GM12871	blood:	n/a	n/a
13	CTCF	chr2:76826980-76827130	GM12868	blood:	n/a	n/a
14	CTCF	chr2:76826940-76827090	GM12867	blood:	n/a	n/a
15	CTCF	chr2:76826980-76827130	HPF	lung:	n/a	n/a
16	CTCF	chr2:76826940-76827090	SAEC	small airway:	n/a	n/a
17	CTCF	chr2:76827000-76827150	GM12868	blood:	n/a	n/a
18	CTCF	chr2:76827000-76827150	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr2:76826980-76827130	GM12867	blood:	n/a	n/a
20	CTCF	chr2:76827780-76827930	K562	blood:	n/a	n/a
21	CTCF	chr2:76827000-76827150	HMEC	breast:	n/a	n/a
22	CTCF	chr2:76826907-76827182	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr2:76827040-76827190	BE2_C	brain:	n/a	n/a
24	CTCF	chr2:76826782-76827238	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr2:76826971-76827198	GM13976	blood:	n/a	n/a
26	CTCF	chr2:76826810-76827201	A549	lung:	n/a	n/a
27	CTCF	chr2:76826940-76827090	GM12875	blood:	n/a	n/a
28	CTCF	chr2:76826846-76827215	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr2:76826980-76827130	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr2:76827360-76827510	GM12864	blood:	n/a	n/a
31	CTCF	chr2:76826980-76827130	GM06990	blood:	n/a	n/a
32	CTCF	chr2:76826699-76827327	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:76827040-76827190	AG09319	gingival:	n/a	n/a
34	CTCF	chr2:76826677-76827355	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:76826920-76827070	A549	lung:	n/a	n/a
36	CTCF	chr2:76826869-76827175	HepG2	liver:	n/a	n/a
37	CTCF	chr2:76827360-76827510	GM12871	blood:	n/a	n/a
38	CTCF	chr2:76826980-76827130	AG10803	skin:	n/a	n/a
39	CTCF	chr2:76827376-76827446	GM10266	blood:	n/a	n/a
40	CTCF	chr2:76826980-76827130	GM12866	blood:	n/a	n/a
41	CTCF	chr2:76826891-76827222	GM13977	blood:	n/a	n/a
42	CTCF	chr2:76826940-76827090	HCM	heart:	n/a	n/a
43	CTCF	chr2:76826920-76827070	HCT-116	colon:	n/a	n/a
44	CTCF	chr2:76826804-76827231	K562	blood:	n/a	n/a
45	CTCF	chr2:76826885-76827162	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr2:76826980-76827130	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr2:76826913-76827207	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr2:76827040-76827190	AG09309	skin:	n/a	n/a
49	CTCF	chr2:76826923-76827142	Fibrobl	skin:	n/a	n/a
50	CTCF	chr2:76826980-76827130	HEEpiC	esophagus:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76839078-76839128	SK-N-SH	brain:	n/a
2	chr2:76839078-76839128	SKMC	muscle:	n/a
3	chr2:76839078-76839128	GM06990	blood:	n/a
4	chr2:76839078-76839128	HEK293	kidney:	embryo
5	chr2:76839078-76839128	BE2_C	brain:	n/a
6	chr2:76839078-76839128	Hepatocyte	liver:	n/a
7	chr2:76839078-76839128	HL-60	blood:	n/a
8	chr2:76839078-76839128	AG10803	skin:	n/a
9	chr2:76839078-76839128	AG09319	gingival:	n/a
10	chr2:76839078-76839128	HAEpiC	amniotic membrane:	n/a
11	chr2:76839078-76839128	HEEpiC	esophagus:	n/a
12	chr2:76839078-76839128	AG09309	skin:	n/a
13	chr2:76839078-76839128	HIPEpiC	eye:	n/a
14	chr2:76839078-76839128	ovcar-3	ovarian:	n/a
15	chr2:76839078-76839128	AG04449	skin:	fetal
16	chr2:76839078-76839128	HCF	heart:	n/a
17	chr2:76839078-76839128	PrEC	prostate:	n/a
18	chr2:76839078-76839128	MCF10A-Er-Src	breast:	n/a
19	chr2:76839078-76839128	HepG2	liver:	n/a
20	chr2:76839078-76839128	HRE	kidney:	n/a
21	chr2:76839078-76839128	PFSK-1	brain:	n/a
22	chr2:76839078-76839128	HNPCEpiC	eye:	n/a
23	chr2:76839078-76839128	NT2-D1	testis:	n/a
24	chr2:76839078-76839128	NHBE	bronchial:	n/a
25	chr2:76839078-76839128	Jurkat	blood:	n/a
26	chr2:76839078-76839128	HMEC	breast:	n/a
27	chr2:76839078-76839128	HCM	heart:	n/a
28	chr2:76839078-76839128	NH-A	brain:	n/a
29	chr2:76839078-76839128	A549	lung:	n/a
30	chr2:76839078-76839128	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:76839078-76839128	U87	brain:	n/a
32	chr2:76839078-76839128	HCPEpiC	choroid plexus:	n/a
33	chr2:76839078-76839128	BJ	skin:	n/a
34	chr2:76839078-76839128	MCF-7	breast:	n/a
35	chr2:76839078-76839128	NHDF-neo	bronchial:	n/a
36	chr2:76839078-76839128	NB4	blood:	n/a
37	chr2:76839078-76839128	GM12891	blood:	n/a
38	chr2:76839078-76839128	Hela-S3	cervix:	n/a
39	chr2:76839078-76839128	LNCaP	prostate:	n/a
40	chr2:76839078-76839128	SK-N-SH_RA	brain:	n/a
41	chr2:76839078-76839128	CMK	blood:	n/a
42	chr2:76839078-76839128	GM12878	blood:	n/a
43	chr2:76839078-76839128	PANC-1	pancreas:	n/a
44	chr2:76839078-76839128	Caco-2	colon:	n/a
45	chr2:76839078-76839128	H1-hESC	embryonic stem cell:	embryo
46	chr2:76839078-76839128	AG04450	lung:	fetal
47	chr2:76839078-76839128	IMR90	lung:	fetal
48	chr2:76839078-76839128	GM12892	blood:	n/a
49	chr2:76839078-76839128	GM19239	blood:	n/a
50	chr2:76839078-76839128	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:76014514..76015446-chr2:76826422..76827585,4	MCF-7	breast:
2	chr2:75957100..75957649-chr2:76826627..76827405,2	MCF-7	breast:
3	chr2:76123697..76124563-chr2:76826531..76827162,2	MCF-7	breast:
4	chr2:76424788..76425711-chr2:76826568..76827565,9	MCF-7	breast:
5	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SKP164	TF binding region
RN7SKP164	CpG island

Extended variants
information (count: 854 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553023406	chr2:76825914-76825915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552741978	chr2:76825937-76825938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571364141	chr2:76825958-76825959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139592826	chr2:76825985-76825986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77071036	chr2:76826006-76826007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574864063	chr2:76826007-76826008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545506984	chr2:76826069-76826070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538219203	chr2:76826091-76826092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563821522	chr2:76826113-76826114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559113885	chr2:76826125-76826126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541609421	chr2:76826131-76826132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559834924	chr2:76826134-76826135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35643288	chr2:76826139-76826140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10153813	chr2:76826142-76826143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548553827	chr2:76826164-76826165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149715827	chr2:76826196-76826197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35830619	chr2:76826200-76826201	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559194397	chr2:76826204-76826205	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188558632	chr2:76826206-76826207	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147698480	chr2:76826220-76826221	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530237485	chr2:76826229-76826230	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76167607	chr2:76826263-76826264	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370086215	chr2:76826274-76826275	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554938752	chr2:76826285-76826286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192078096	chr2:76826323-76826324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs146368096	chr2:76826330-76826331	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539023762	chr2:76826334-76826335	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147866278	chr2:76826353-76826354	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78695106	chr2:76826420-76826421	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539907472	chr2:76826446-76826447	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113368955	chr2:76826457-76826458	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs540683079	chr2:76826458-76826459	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374797460	chr2:76826493-76826494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112216791	chr2:76826513-76826514	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184675687	chr2:76826535-76826536	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563958024	chr2:76826558-76826559	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs148161241	chr2:76826567-76826568	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs559180404	chr2:76826568-76826569	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs141964269	chr2:76826584-76826585	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs117845727	chr2:76826622-76826623	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562083394	chr2:76826640-76826641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs5832245	chr2:76826641-76826642	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs35721366	chr2:76826657-76826658	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369715942	chr2:76826658-76826659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373867619	chr2:76826750-76826751	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs57058940	chr2:76826773-76826774	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376136934	chr2:76826795-76826796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs540478567	chr2:76826823-76826824	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568258745	chr2:76826834-76826835	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2139495	chr2:76826858-76826859	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76807400-76826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:76810400-76826200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:76814200-76826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:76817000-76826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:76817200-76849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:76823200-76829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:76823400-76826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:76826200-76827000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:76826400-76827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:76826600-76827400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:76826800-76827000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:76826800-76827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:76826800-76827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:76826800-76827600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:76826800-76827600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:76827400-76837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:76827600-76828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:76828600-76829000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:76829000-76837200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:76829200-76829800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:76829400-76829800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:76835600-76835800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:76835800-76837800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:76836400-76836600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:76836600-76837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:76836800-76842600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:76837200-76838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:76837200-76839800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:76837200-76842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:76837400-76838200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:76837400-76838400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:76837400-76839000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:76837600-76842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:76837800-76838600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:76838200-76839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:76838200-76841800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:76838400-76839400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:76838600-76839800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:76839000-76840200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:76839400-76840800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:76839800-76840400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:76839800-76840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:76839800-76840600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:76839800-76840600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:76839800-76840800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:76840200-76841200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:76840600-76841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:76840600-76842200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:76840800-76849600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:76841200-76841600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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