Variant report

Variant	nsv1000782
Chromosome Location	chr2:76820678-76874993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

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	ATF2	chr2:76868112-76868533	GM12878	blood:	n/a	n/a
3	BACH1	chr2:76826863-76827150	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr2:76868153-76868459	GM12878	blood:	n/a	chr2:76868323-76868334 chr2:76868324-76868334 chr2:76868320-76868330
5	BATF	chr2:76826886-76827145	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:76868123-76868435	GM12878	blood:	n/a	chr2:76868323-76868332 chr2:76868322-76868331
7	BHLHE40	chr2:76826935-76827215	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:76826921-76827181	K562	blood:	n/a	n/a
9	BRCA1	chr2:76826858-76827249	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:76826891-76827167	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:76826886-76827202	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr2:76856448-76856731	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:76826828-76827196	T-47D	breast:	n/a	n/a
14	CTCF	chr2:76826980-76827130	AG10803	skin:	n/a	n/a
15	CTCF	chr2:76826980-76827130	GM12872	blood:	n/a	n/a
16	CTCF	chr2:76826980-76827130	K562	blood:	n/a	n/a
17	CTCF	chr2:76826810-76827201	A549	lung:	n/a	n/a
18	CTCF	chr2:76826980-76827130	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:76827780-76827930	K562	blood:	n/a	n/a
20	CTCF	chr2:76851646-76851678	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:76826980-76827130	GM12873	blood:	n/a	n/a
22	CTCF	chr2:76826877-76827237	GM12878	blood:	n/a	n/a
23	CTCF	chr2:76826980-76827130	HMF	breast:	n/a	n/a
24	CTCF	chr2:76826927-76827189	GM20000	blood:	n/a	n/a
25	CTCF	chr2:76826980-76827130	GM12878	blood:	n/a	n/a
26	CTCF	chr2:76826960-76827110	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr2:76827000-76827150	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr2:76826980-76827130	GM12868	blood:	n/a	n/a
29	CTCF	chr2:76826907-76827182	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:76827020-76827170	HVMF	connective:	n/a	n/a
31	CTCF	chr2:76827000-76827150	BJ	skin:	n/a	n/a
32	CTCF	chr2:76827000-76827150	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr2:76827360-76827510	GM12871	blood:	n/a	n/a
34	CTCF	chr2:76826934-76827210	GM10266	blood:	n/a	n/a
35	CTCF	chr2:76826980-76827130	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr2:76826895-76827197	K562	blood:	n/a	n/a
37	CTCF	chr2:76826980-76827130	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr2:76826980-76827130	GM12867	blood:	n/a	n/a
39	CTCF	chr2:76826940-76827090	HCFaa	heart:	n/a	n/a
40	CTCF	chr2:76826960-76827110	GM12873	blood:	n/a	n/a
41	CTCF	chr2:76826904-76827218	K562	blood:	n/a	n/a
42	CTCF	chr2:76826954-76827169	A549	lung:	n/a	n/a
43	CTCF	chr2:76851572-76851767	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:76827340-76827490	GM12870	blood:	n/a	n/a
45	CTCF	chr2:76827360-76827510	GM12864	blood:	n/a	n/a
46	CTCF	chr2:76826964-76827247	A549	lung:	n/a	n/a
47	CTCF	chr2:76827376-76827446	GM10266	blood:	n/a	n/a
48	CTCF	chr2:76826892-76827198	HepG2	liver:	n/a	n/a
49	CTCF	chr2:76826935-76827115	GM12891	blood:	n/a	n/a
50	CTCF	chr2:76826980-76827130	HPAF	blood vessel:	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	HL-60	blood:	n/a
2	chr2:76839078-76839128	PFSK-1	brain:	n/a
3	chr2:76839078-76839128	A549	lung:	n/a
4	chr2:76839078-76839128	AG09309	skin:	n/a
5	chr2:76839078-76839128	AG10803	skin:	n/a
6	chr2:76839078-76839128	LNCaP	prostate:	n/a
7	chr2:76839078-76839128	AG04449	skin:	fetal
8	chr2:76839078-76839128	AoSMC	blood vessel:	n/a
9	chr2:76839078-76839128	HepG2	liver:	n/a
10	chr2:76839078-76839128	HCT-116	colon:	n/a
11	chr2:76839078-76839128	GM12878	blood:	n/a
12	chr2:76839078-76839128	MCF-7	breast:	n/a
13	chr2:76839078-76839128	BJ	skin:	n/a
14	chr2:76839078-76839128	AG04450	lung:	fetal
15	chr2:76839078-76839128	Hepatocyte	liver:	n/a
16	chr2:76839078-76839128	T-47D	breast:	n/a
17	chr2:76839078-76839128	HCF	heart:	n/a
18	chr2:76839078-76839128	HRCEpiC	kidney:	n/a
19	chr2:76839078-76839128	NHDF-neo	bronchial:	n/a
20	chr2:76839078-76839128	HAEpiC	amniotic membrane:	n/a
21	chr2:76839078-76839128	IMR90	lung:	fetal
22	chr2:76839078-76839128	HRE	kidney:	n/a
23	chr2:76839078-76839128	HEK293	kidney:	embryo
24	chr2:76839078-76839128	HEEpiC	esophagus:	n/a
25	chr2:76839078-76839128	HRPEpiC	eye:	n/a
26	chr2:76839078-76839128	SK-N-SH_RA	brain:	n/a
27	chr2:76839078-76839128	PANC-1	pancreas:	n/a
28	chr2:76839078-76839128	BE2_C	brain:	n/a
29	chr2:76839078-76839128	ECC-1	luminal epithelium:	n/a
30	chr2:76839078-76839128	CMK	blood:	n/a
31	chr2:76839078-76839128	HNPCEpiC	eye:	n/a
32	chr2:76839078-76839128	HCM	heart:	n/a
33	chr2:76839078-76839128	H1-hESC	embryonic stem cell:	embryo
34	chr2:76839078-76839128	NHBE	bronchial:	n/a
35	chr2:76839078-76839128	NT2-D1	testis:	n/a
36	chr2:76839078-76839128	RPTEC	kidney:	n/a
37	chr2:76839078-76839128	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:76839078-76839128	MCF10A-Er-Src	breast:	n/a
39	chr2:76839078-76839128	HCPEpiC	choroid plexus:	n/a
40	chr2:76839078-76839128	ovcar-3	ovarian:	n/a
41	chr2:76839078-76839128	HMEC	breast:	n/a
42	chr2:76839078-76839128	HIPEpiC	eye:	n/a
43	chr2:76839078-76839128	GM12892	blood:	n/a
44	chr2:76839078-76839128	HUVEC	blood vessel:	n/a
45	chr2:76839078-76839128	GM06990	blood:	n/a
46	chr2:76839078-76839128	GM12891	blood:	n/a
47	chr2:76839078-76839128	AG09319	gingival:	n/a
48	chr2:76839078-76839128	NH-A	brain:	n/a
49	chr2:76839078-76839128	SAEC	small airway:	n/a
50	chr2:76839078-76839128	Hela-S3	cervix:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:75957100..75957649-chr2:76826627..76827405,2	MCF-7	breast:
2	chr2:76014514..76015446-chr2:76826422..76827585,4	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:
6	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-5	chr2:76822539-76822804	NONHSAT071821

No data

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

Extended variants
information (count: 2312 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2312 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7603304	chr2:76820678-76820679	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563563228	chr2:76820688-76820689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369703723	chr2:76820691-76820692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575162700	chr2:76820814-76820815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545761329	chr2:76820819-76820820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181168986	chr2:76820829-76820830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76512647	chr2:76820840-76820841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186433561	chr2:76820898-76820899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140482682	chr2:76820926-76820927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543169931	chr2:76820950-76820951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10168970	chr2:76820983-76820984	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150403135	chr2:76821069-76821070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113904665	chr2:76821093-76821094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191331791	chr2:76821101-76821102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11897408	chr2:76821113-76821114	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs143823973	chr2:76821116-76821117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66892644	chr2:76821167-76821168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72147998	chr2:76821169-76821170	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571000106	chr2:76821182-76821183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183613528	chr2:76821185-76821186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535135253	chr2:76821233-76821234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147334133	chr2:76821268-76821269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376500409	chr2:76821289-76821290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568177098	chr2:76821301-76821302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535620326	chr2:76821321-76821322	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559209813	chr2:76821349-76821350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557000605	chr2:76821364-76821365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575490687	chr2:76821379-76821380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139335224	chr2:76821388-76821389	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552794648	chr2:76821393-76821394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188554746	chr2:76821419-76821420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533063644	chr2:76821521-76821522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572458337	chr2:76821522-76821523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34456482	chr2:76821532-76821533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397873521	chr2:76821535-76821536	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539962999	chr2:76821571-76821572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370789090	chr2:76821586-76821587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561412874	chr2:76821613-76821614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192092079	chr2:76821627-76821628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573955233	chr2:76821679-76821680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563357245	chr2:76821779-76821780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112296617	chr2:76821891-76821892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535708732	chr2:76821895-76821896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542388166	chr2:76821897-76821898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563875374	chr2:76821927-76821928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143230884	chr2:76821938-76821939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62171693	chr2:76821950-76821951	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377649818	chr2:76822003-76822004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144772254	chr2:76822052-76822053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148430267	chr2:76822111-76822112	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76807400-76826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:76808600-76824200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:76808800-76822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:76810400-76826200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:76814200-76826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:76817000-76826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:76817200-76849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:76819200-76823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:76819800-76821000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:76821000-76823400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:76823200-76829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:76823400-76826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:76824200-76824400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:76824400-76825000	Enhancers	Gastric	stomach
15	chr2:76826200-76827000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:76826400-76827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:76826600-76827400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:76826800-76827000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:76826800-76827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:76826800-76827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:76826800-76827600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:76826800-76827600	Enhancers	Brain Hippocampus Middle	brain
23	chr2:76827400-76837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:76827600-76828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:76828600-76829000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:76829000-76837200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:76829200-76829800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:76829400-76829800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:76835600-76835800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:76835800-76837800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:76836400-76836600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:76836600-76837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:76836800-76842600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:76837200-76838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:76837200-76839800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:76837200-76842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:76837400-76838200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:76837400-76838400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:76837400-76839000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:76837600-76842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:76837800-76838600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:76838200-76839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:76838200-76841800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:76838400-76839400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:76838600-76839800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:76839000-76840200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:76839400-76840800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:76839800-76840400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:76839800-76840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:76839800-76840600	Enhancers	H1 Cell Line	embryonic stem cell

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