Variant report

Variant	nsv963040
Chromosome Location	chr19:35871038-35886790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:299)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:299 , 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	chr19:35871270-35871889	K562	blood:	n/a	n/a
2	ARID3A	chr19:35880399-35880681	K562	blood:	n/a	n/a
3	ARID3A	chr19:35871213-35871725	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:35879815-35880030	K562	blood:	n/a	n/a
5	ARID3A	chr19:35879373-35880761	HepG2	liver:	n/a	n/a
6	ATF1	chr19:35871331-35871743	K562	blood:	n/a	n/a
7	ATF1	chr19:35879415-35879568	K562	blood:	n/a	n/a
8	ATF3	chr19:35871366-35871742	K562	blood:	n/a	n/a
9	ATF3	chr19:35880272-35880656	K562	blood:	n/a	n/a
10	BACH1	chr19:35880167-35880508	K562	blood:	n/a	n/a
11	BCL3	chr19:35880476-35880817	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:35883275-35883547	K562	blood:	n/a	n/a
13	BHLHE40	chr19:35879520-35879925	K562	blood:	n/a	n/a
14	BHLHE40	chr19:35879559-35879857	HepG2	liver:	n/a	n/a
15	BHLHE40	chr19:35880321-35880607	K562	blood:	n/a	n/a
16	BHLHE40	chr19:35879537-35879888	HepG2	liver:	n/a	n/a
17	BHLHE40	chr19:35871044-35872001	K562	blood:	n/a	n/a
18	BHLHE40	chr19:35880373-35880665	HepG2	liver:	n/a	n/a
19	CBX3	chr19:35876775-35877102	K562	blood:	n/a	n/a
20	CBX3	chr19:35876803-35877084	K562	blood:	n/a	n/a
21	CBX3	chr19:35871059-35871809	K562	blood:	n/a	n/a
22	CBX3	chr19:35876793-35877224	HCT-116	colon:	n/a	n/a
23	CCNT2	chr19:35879588-35879922	K562	blood:	n/a	n/a
24	CCNT2	chr19:35880399-35880711	K562	blood:	n/a	n/a
25	CCNT2	chr19:35871129-35871769	K562	blood:	n/a	n/a
26	CEBPB	chr19:35870419-35871781	K562	blood:	n/a	chr19:35870619-35870630
27	CEBPB	chr19:35885130-35885427	A549	lung:	n/a	n/a
28	CEBPB	chr19:35871372-35871750	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:35871189-35871777	K562	blood:	n/a	n/a
30	CEBPB	chr19:35884986-35885081	K562	blood:	n/a	chr19:35885058-35885067 chr19:35885058-35885069
31	CEBPB	chr19:35871466-35871613	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:35880171-35880416	HepG2	liver:	n/a	n/a
33	CEBPB	chr19:35871404-35871720	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:35884957-35885393	HepG2	liver:	n/a	chr19:35885058-35885067 chr19:35885058-35885069
35	CEBPB	chr19:35871392-35871700	K562	blood:	n/a	n/a
36	CEBPB	chr19:35874615-35874707	K562	blood:	n/a	n/a
37	CEBPD	chr19:35871361-35871679	HepG2	liver:	n/a	n/a
38	CEBPD	chr19:35870949-35871815	K562	blood:	n/a	n/a
39	CEBPD	chr19:35871178-35871803	K562	blood:	n/a	n/a
40	CEBPD	chr19:35880284-35880734	K562	blood:	n/a	n/a
41	CHD2	chr19:35880406-35880491	K562	blood:	n/a	n/a
42	CTCF	chr19:35871288-35871809	K562	blood:	n/a	n/a
43	CTCF	chr19:35884320-35884470	GM12869	blood:	n/a	n/a
44	CTCF	chr19:35871520-35871670	Caco-2	colon:	n/a	n/a
45	CTCFL	chr19:35871510-35871696	K562	blood:	n/a	n/a
46	CUX1	chr19:35880079-35880583	K562	blood:	n/a	n/a
47	CUX1	chr19:35879553-35879838	K562	blood:	n/a	n/a
48	CUX1	chr19:35871142-35872116	K562	blood:	n/a	n/a
49	E2F6	chr19:35880334-35880606	K562	blood:	n/a	n/a
50	E2F6	chr19:35871342-35871806	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:
2	chr19:35885135..35886720-chr19:35887964..35890211,2	K562	blood:
3	chr19:35885081..35886581-chr6:162062521..162064392,2	K562	blood:
4	chr19:35866654..35868491-chr19:35868954..35871337,2	K562	blood:
5	chr19:35865310..35868154-chr19:35869837..35872073,2	K562	blood:
6	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR42-2	chr19:35871954-35872278	NONHSAT065830

No data

Variant related genes	Relation type
EEF1A1P7	TF binding region
ENSG00000205786	TF binding region

Extended variants
information (count: 612 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372672473	chr19:35871056-35871057	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570907805	chr19:35871072-35871073	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539472137	chr19:35871075-35871076	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73037356	chr19:35871077-35871078	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575941995	chr19:35871081-35871082	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs60539944	chr19:35871128-35871129	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555241304	chr19:35871135-35871136	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371131631	chr19:35871181-35871182	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541207149	chr19:35871193-35871194	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557344018	chr19:35871201-35871202	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4806147	chr19:35871203-35871204	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4806148	chr19:35871221-35871222	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563232046	chr19:35871255-35871256	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192405780	chr19:35871266-35871267	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561861800	chr19:35871288-35871289	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370678064	chr19:35871434-35871435	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183800924	chr19:35871445-35871446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527913703	chr19:35871473-35871474	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs117820556	chr19:35871496-35871497	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570872461	chr19:35871512-35871513	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs187916695	chr19:35871546-35871547	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112380432	chr19:35871588-35871589	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569763082	chr19:35871601-35871602	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535449857	chr19:35871602-35871603	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191159089	chr19:35871664-35871665	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs572285688	chr19:35871665-35871666	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574663361	chr19:35871682-35871683	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs376401161	chr19:35871685-35871686	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs718133	chr19:35871707-35871708	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs182545488	chr19:35871757-35871758	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139562932	chr19:35871773-35871774	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149732235	chr19:35871873-35871874	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557087794	chr19:35871898-35871899	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs572812755	chr19:35871950-35871951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573719504	chr19:35871996-35871997	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs186870306	chr19:35872004-35872005	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs562395805	chr19:35872013-35872014	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs527953152	chr19:35872045-35872046	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs191648824	chr19:35872053-35872054	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs576572401	chr19:35872104-35872105	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs533359871	chr19:35872141-35872142	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs147838665	chr19:35872142-35872143	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs141450256	chr19:35872186-35872187	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs146922481	chr19:35872206-35872207	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs147568507	chr19:35872207-35872208	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs548940385	chr19:35872226-35872227	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs115468894	chr19:35872231-35872232	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs386808928	chr19:35872242-35872243	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs188294113	chr19:35872243-35872244	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs571464264	chr19:35872270-35872271	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35869600-35874400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:35869800-35871800	Weak transcription	GM12878-XiMat	blood
3	chr19:35870200-35873400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:35870400-35872600	Enhancers	Rectal Smooth Muscle	rectum
5	chr19:35870800-35872000	Enhancers	Fetal Heart	heart
6	chr19:35870800-35872200	Enhancers	Left Ventricle	heart
7	chr19:35870800-35872400	Enhancers	Stomach Mucosa	stomach
8	chr19:35871000-35871600	Flanking Active TSS	HepG2	liver
9	chr19:35871000-35871800	Enhancers	Fetal Intestine Large	intestine
10	chr19:35871000-35872000	Enhancers	Fetal Intestine Small	intestine
11	chr19:35871000-35872000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr19:35871000-35872200	Enhancers	Gastric	stomach
13	chr19:35871000-35872200	Enhancers	Pancreas	Pancrea
14	chr19:35871000-35872200	Enhancers	Right Ventricle	heart
15	chr19:35871000-35872400	Flanking Active TSS	K562	blood
16	chr19:35871000-35872600	Enhancers	Colon Smooth Muscle	Colon
17	chr19:35871200-35871600	Enhancers	Stomach Smooth Muscle	stomach
18	chr19:35871200-35872000	Enhancers	Placenta	Placenta
19	chr19:35871400-35871800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr19:35871400-35872000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr19:35871600-35872600	Enhancers	HepG2	liver
22	chr19:35871800-35872200	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr19:35871800-35872400	Enhancers	GM12878-XiMat	blood
24	chr19:35872000-35872400	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr19:35872200-35873800	Weak transcription	Left Ventricle	heart
26	chr19:35872200-35873800	Weak transcription	Pancreas	Pancrea
27	chr19:35872400-35873800	Weak transcription	Stomach Mucosa	stomach
28	chr19:35872400-35874400	Enhancers	K562	blood
29	chr19:35872600-35874000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:35873400-35878800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:35873800-35874000	Enhancers	Stomach Mucosa	stomach
32	chr19:35873800-35874600	Enhancers	Pancreas	Pancrea
33	chr19:35873800-35874800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr19:35873800-35874800	Enhancers	Adipose Nuclei	Adipose
35	chr19:35873800-35875000	Enhancers	Left Ventricle	heart
36	chr19:35874000-35874200	Enhancers	Rectal Smooth Muscle	rectum
37	chr19:35874000-35874400	Weak transcription	Stomach Mucosa	stomach
38	chr19:35874000-35874600	Enhancers	Colon Smooth Muscle	Colon
39	chr19:35874200-35874400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:35874400-35874600	Enhancers	Stomach Mucosa	stomach
41	chr19:35874400-35874800	Weak transcription	K562	blood
42	chr19:35874600-35875000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:35874600-35876600	Weak transcription	Pancreas	Pancrea
44	chr19:35874600-35878600	Weak transcription	Stomach Mucosa	stomach
45	chr19:35874600-35879400	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:35874800-35875000	Enhancers	K562	blood
47	chr19:35875000-35879200	Weak transcription	K562	blood
48	chr19:35875800-35880600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:35876800-35877400	Weak transcription	Pancreas	Pancrea
50	chr19:35878600-35878800	Enhancers	Stomach Mucosa	stomach

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