Variant report

Variant	nsv965340
Chromosome Location	chr3:97957002-97980365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 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	chr3:97962650-97963075	HepG2	liver:	n/a	n/a
2	BATF	chr3:97959089-97959288	GM12878	blood:	n/a	chr3:97959202-97959213
3	BHLHE40	chr3:97962720-97963131	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:97962794-97963080	HepG2	liver:	n/a	n/a
5	CHD1	chr3:97959991-97960022	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr3:97978580-97978730	WI-38	lung:	n/a	n/a
7	CTCF	chr3:97978720-97978870	HMEC	breast:	n/a	n/a
8	CTCF	chr3:97978707-97978838	K562	blood:	n/a	n/a
9	CTCF	chr3:97978700-97978850	GM12868	blood:	n/a	n/a
10	CTCF	chr3:97978732-97978804	GM13976	blood:	n/a	n/a
11	CTCF	chr3:97978540-97978690	AG04450	lung:	n/a	n/a
12	CTCF	chr3:97978640-97978790	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr3:97978720-97978870	HMF	breast:	n/a	n/a
14	CTCF	chr3:97978720-97978870	GM12864	blood:	n/a	n/a
15	CTCF	chr3:97978720-97978870	NHEK	skin:	n/a	n/a
16	CTCF	chr3:97978695-97978847	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:97978900-97979050	Caco-2	colon:	n/a	n/a
18	CTCF	chr3:97978680-97978830	GM12871	blood:	n/a	n/a
19	CTCF	chr3:97978680-97978830	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr3:97978700-97978850	HCT-116	colon:	n/a	n/a
21	CTCF	chr3:97978675-97978877	GM12878	blood:	n/a	n/a
22	CTCF	chr3:97978660-97978810	BE2_C	brain:	n/a	n/a
23	CTCF	chr3:97978700-97978850	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr3:97978680-97978830	NB4	blood:	n/a	n/a
25	CTCF	chr3:97978667-97978879	A549	lung:	n/a	n/a
26	CTCF	chr3:97978670-97978895	Gliobla	brain:	n/a	n/a
27	CTCF	chr3:97978672-97978836	HepG2	liver:	n/a	n/a
28	CTCF	chr3:97978742-97978765	Fibrobl	skin:	n/a	n/a
29	CTCF	chr3:97978700-97978850	HepG2	liver:	n/a	n/a
30	CTCF	chr3:97978620-97978770	RPTEC	kidney:	n/a	n/a
31	CTCF	chr3:97978660-97978810	GM12874	blood:	n/a	n/a
32	CTCF	chr3:97978640-97978790	GM12878	blood:	n/a	n/a
33	CTCF	chr3:97978740-97978890	HL-60	blood:	n/a	n/a
34	CTCF	chr3:97967723-97967796	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr3:97978572-97978895	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr3:97978420-97978570	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr3:97978683-97978863	GM12891	blood:	n/a	n/a
38	CTCF	chr3:97978700-97978850	RPTEC	kidney:	n/a	n/a
39	CTCF	chr3:97978660-97978810	HCT-116	colon:	n/a	n/a
40	CTCF	chr3:97978720-97978870	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr3:97978640-97978899	GM19238	blood:	n/a	n/a
42	CTCF	chr3:97958660-97958810	GM12871	blood:	n/a	n/a
43	CTCF	chr3:97978719-97978887	Medullo	brain:	n/a	n/a
44	CTCF	chr3:97978700-97978850	Caco-2	colon:	n/a	n/a
45	CTCF	chr3:97978710-97978873	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr3:97978753-97978801	GM10248	blood:	n/a	n/a
47	CTCF	chr3:97978720-97978870	HepG2	liver:	n/a	n/a
48	CTCF	chr3:97978160-97978310	GM12864	blood:	n/a	n/a
49	CTCF	chr3:97978720-97978870	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:97978680-97978830	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:97977847..97980147-chr3:97980537..97982058,2	MCF-7	breast:
2	chr3:97978738..97980851-chr3:98012803..98015207,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR5H6	TF binding region
OR5H7P	TF binding region

Extended variants
information (count: 587 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546320844	chr3:97958611-97958612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533204500	chr3:97958630-97958631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13321188	chr3:97958635-97958636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs371085223	chr3:97958662-97958663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78650432	chr3:97958668-97958669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551777029	chr3:97958669-97958670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571868311	chr3:97958670-97958671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541667805	chr3:97958713-97958714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116106361	chr3:97958725-97958726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62267222	chr3:97958733-97958734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187952840	chr3:97958746-97958747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58919378	chr3:97958800-97958801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567679546	chr3:97958804-97958805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193204173	chr3:97958812-97958813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183249010	chr3:97958829-97958830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552458854	chr3:97958831-97958832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555303410	chr3:97958956-97958957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558454799	chr3:97958959-97958960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368704501	chr3:97958960-97958961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545231663	chr3:97959019-97959020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558483856	chr3:97959055-97959056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563897411	chr3:97959057-97959058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1497543	chr3:97959076-97959077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57218933	chr3:97959083-97959084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144714603	chr3:97959097-97959098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4388016	chr3:97959107-97959108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112911995	chr3:97959165-97959166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386663719	chr3:97959189-97959190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6802852	chr3:97959200-97959201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568210512	chr3:97959203-97959204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6779299	chr3:97959231-97959232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532116828	chr3:97959236-97959237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551903933	chr3:97959254-97959255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114645615	chr3:97959260-97959261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78107073	chr3:97959292-97959293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551324325	chr3:97959378-97959379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540452284	chr3:97959381-97959382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148221300	chr3:97959387-97959388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141129997	chr3:97959397-97959398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569451365	chr3:97959427-97959428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs904143	chr3:97959441-97959442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566908446	chr3:97959457-97959458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111954381	chr3:97959478-97959479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558432048	chr3:97959491-97959492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568665517	chr3:97959514-97959515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34388777	chr3:97959516-97959517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369759612	chr3:97959520-97959521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542963622	chr3:97959531-97959532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371589374	chr3:97959544-97959545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575380634	chr3:97959598-97959599	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97958600-97959400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:97959000-97959600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:97959000-97961600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:97959200-97960600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:97959200-97961400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:97959200-97961400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:97959200-97961800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:97959400-97961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:97959600-97960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:97959800-97960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:97959800-97960600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:97959800-97962000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:97960000-97961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:97962600-97964000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:97970200-97973400	Weak transcription	Fetal Heart	heart
16	chr3:97974200-97974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:97974400-97975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:97974600-97975400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:97974600-97975800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:97974600-97975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:97974800-97975400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:97974800-97975400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:97975000-97975600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:97975200-97975600	Enhancers	HUES64 Cell Line	embryonic stem cell

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