Variant report

Variant	nsv523771
Chromosome Location	chr3:82363196-82412694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:82378559-82378834	HepG2	liver:	n/a	n/a
2	CEBPB	chr3:82412304-82412658	HepG2	liver:	n/a	chr3:82412474-82412485
3	CEBPB	chr3:82412398-82412633	K562	blood:	n/a	chr3:82412474-82412485
4	CEBPB	chr3:82412343-82412683	H1-hESC	embryonic stem cell:	n/a	chr3:82412474-82412485
5	CEBPB	chr3:82412329-82412662	IMR90	lung:	n/a	chr3:82412474-82412485
6	CEBPB	chr3:82382150-82382245	A549	lung:	n/a	n/a
7	CEBPB	chr3:82412334-82412648	A549	lung:	n/a	chr3:82412474-82412485
8	CHD1	chr3:82380537-82380575	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:82378560-82378710	HMEC	breast:	n/a	n/a
10	CTCF	chr3:82378600-82378750	AG10803	skin:	n/a	n/a
11	CTCF	chr3:82378540-82378690	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr3:82378565-82378777	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr3:82378600-82378750	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr3:82378620-82378770	AG10803	skin:	n/a	n/a
15	CTCF	chr3:82378580-82378730	AG09319	gingival:	n/a	n/a
16	CTCF	chr3:82378560-82378710	BJ	skin:	n/a	n/a
17	CTCF	chr3:82378620-82378770	HCT-116	colon:	n/a	n/a
18	CTCF	chr3:82378622-82378719	K562	blood:	n/a	n/a
19	CTCF	chr3:82378600-82378750	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr3:82378540-82378690	HRE	kidney:	n/a	n/a
21	CTCF	chr3:82378580-82378730	HepG2	liver:	n/a	n/a
22	CTCF	chr3:82378664-82378686	K562	blood:	n/a	n/a
23	CTCF	chr3:82378600-82378750	RPTEC	kidney:	n/a	n/a
24	CTCF	chr3:82378580-82378730	GM12865	blood:	n/a	n/a
25	CTCF	chr3:82378580-82378730	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr3:82378540-82378690	GM12864	blood:	n/a	n/a
27	CTCF	chr3:82378680-82378830	BE2_C	brain:	n/a	n/a
28	CTCF	chr3:82378600-82378750	Caco-2	colon:	n/a	n/a
29	CTCF	chr3:82378543-82378797	LNCaP	prostate:	n/a	n/a
30	CTCF	chr3:82378560-82378710	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr3:82378540-82378690	GM06990	blood:	n/a	n/a
32	CTCF	chr3:82378560-82378710	Caco-2	colon:	n/a	n/a
33	CTCF	chr3:82378560-82378710	GM12871	blood:	n/a	n/a
34	CTCF	chr3:82378560-82378710	GM12864	blood:	n/a	n/a
35	CTCF	chr3:82378560-82378710	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr3:82378601-82378752	Medullo	brain:	n/a	n/a
37	CTCF	chr3:82382953-82383016	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr3:82378620-82378770	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr3:82378480-82378750	HCM	heart:	n/a	n/a
40	CTCF	chr3:82378580-82378730	SAEC	small airway:	n/a	n/a
41	CTCF	chr3:82378560-82378710	GM12872	blood:	n/a	n/a
42	CTCF	chr3:82378600-82378750	AG04449	skin:	n/a	n/a
43	CTCF	chr3:82378600-82378750	HMF	breast:	n/a	n/a
44	CTCF	chr3:82378580-82378730	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr3:82378640-82378790	HRE	kidney:	n/a	n/a
46	CTCF	chr3:82378600-82378750	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr3:82378620-82378770	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr3:82378600-82378750	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr3:82378602-82378744	GM12878	blood:	n/a	n/a
50	CTCF	chr3:82388460-82388610	GM12868	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:82376131..82377766-chr3:82390133..82393109,2	MCF-7	breast:
2	chr3:82376131..82377766-chr3:82390133..82393109,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GBE1-8	chr3:82369268-82369430	NONHSAT090629
2	lnc-GBE1-8	chr3:82368323-82368935	NONHSAT090629

No data

Variant related genes	Relation type
RPL7AP23	TF binding region

Extended variants
information (count: 870 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:870 , 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	rs529861974	chr3:82364600-82364601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370349742	chr3:82364650-82364651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80002865	chr3:82364733-82364734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372161467	chr3:82364752-82364753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544519843	chr3:82364820-82364821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114488788	chr3:82364829-82364830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59558090	chr3:82364866-82364867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138260505	chr3:82364885-82364886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546357007	chr3:82368331-82368332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138708052	chr3:82368392-82368393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs148962742	chr3:82368396-82368397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs143708241	chr3:82368401-82368402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs148151182	chr3:82368405-82368406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs117208731	chr3:82368406-82368407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs568563680	chr3:82368412-82368413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551027432	chr3:82368415-82368416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191117048	chr3:82368420-82368421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2167111	chr3:82368431-82368432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs554687427	chr3:82368449-82368450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs115117791	chr3:82368501-82368502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs543233763	chr3:82368502-82368503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs566509947	chr3:82368510-82368511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs535643528	chr3:82368525-82368526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs555241323	chr3:82368567-82368568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs575191388	chr3:82368577-82368578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs377374192	chr3:82368578-82368579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs183619677	chr3:82368621-82368622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs557360746	chr3:82368625-82368626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs577240090	chr3:82368641-82368642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs538952328	chr3:82368643-82368644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs79172188	chr3:82368647-82368648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs553361371	chr3:82368707-82368708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs189292219	chr3:82368805-82368806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142968468	chr3:82368820-82368821	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs368332783	chr3:82368822-82368823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs573594255	chr3:82368846-82368847	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs542449218	chr3:82368847-82368848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs562351761	chr3:82368849-82368850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs531257901	chr3:82368905-82368906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs544939742	chr3:82368934-82368935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs542034426	chr3:82369307-82369308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555041702	chr3:82369313-82369314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs56228704	chr3:82369323-82369324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs544371762	chr3:82369324-82369325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575922623	chr3:82369341-82369342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs544881530	chr3:82369373-82369374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs190133943	chr3:82369396-82369397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs78053671	chr3:82369419-82369420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs115950728	chr3:82371404-82371405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372266464	chr3:82371452-82371453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82364600-82365000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:82374800-82375600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:82386600-82387000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:82391400-82391600	Bivalent Enhancer	Esophagus	oesophagus
5	chr3:82391400-82392200	Active TSS	Ovary	ovary
6	chr3:82391800-82392200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:82392200-82392400	Enhancers	Ovary	ovary
8	chr3:82392600-82393400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:82392800-82393200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:82393200-82404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:82401600-82401800	Enhancers	Fetal Brain Female	brain
12	chr3:82402200-82403400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:82402200-82403800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:82402400-82402800	Enhancers	Fetal Brain Male	brain
15	chr3:82402400-82403600	Enhancers	Ovary	ovary
16	chr3:82402800-82403400	Weak transcription	Fetal Brain Female	brain
17	chr3:82402800-82404000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:82403400-82403600	Enhancers	Pancreas	Pancrea
19	chr3:82403400-82403600	Enhancers	Psoas Muscle	Psoas
20	chr3:82403400-82403800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:82403400-82403800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:82403400-82404000	Enhancers	Fetal Brain Female	brain
23	chr3:82403400-82406200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:82403600-82403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:82403600-82406400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:82403600-82406400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:82403800-82404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:82403800-82405200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:82403800-82405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:82404000-82404600	Weak transcription	Fetal Brain Female	brain
31	chr3:82404200-82405600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:82404400-82405200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:82404600-82404800	Enhancers	Fetal Brain Female	brain
34	chr3:82404800-82405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:82405200-82405600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:82405200-82405600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:82405600-82406200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:82406200-82412600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:82406400-82407600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:82410000-82410400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:82410400-82410600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:82410600-82412400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:82410800-82412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:82412000-82413400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:82412400-82412600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:82412400-82413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:82412600-82412800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:82412600-82413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:82412600-82413400	Active TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links