Variant report

Variant	nsv965201
Chromosome Location	chr3:119510080-119511345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:119510281-119510304	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:119510237-119510308	K562	blood:	n/a	chr3:119510276-119510287
3	CEBPB	chr3:119510137-119510415	HepG2	liver:	n/a	chr3:119510276-119510287
4	CTCF	chr3:119511014-119511040	LNCaP	prostate:	n/a	n/a
5	NR3C1	chr3:119511075-119511487	A549	lung:	n/a	n/a
6	NR3C1	chr3:119511160-119511461	A549	lung:	n/a	n/a
7	NR3C1	chr3:119511047-119511455	A549	lung:	n/a	n/a
8	NR3C1	chr3:119511069-119511497	A549	lung:	n/a	n/a
9	POLR2A	chr3:119511306-119511370	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:119510800-119510952	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119510909..119513953-chr3:119514986..119517424,3	K562	blood:

Variant related genes	Relation type
PHBP8	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551910537	chr3:119510092-119510093	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs66976262	chr3:119510101-119510102	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73175814	chr3:119510114-119510115	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555776764	chr3:119510120-119510121	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574332641	chr3:119510162-119510163	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13087843	chr3:119510164-119510165	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534231481	chr3:119510172-119510173	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368353902	chr3:119510174-119510175	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572959292	chr3:119510186-119510187	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs143723463	chr3:119510198-119510199	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs59953121	chr3:119510205-119510206	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181287412	chr3:119510303-119510304	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565451645	chr3:119510345-119510346	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577432841	chr3:119510390-119510391	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376466354	chr3:119510432-119510433	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72554009	chr3:119510444-119510445	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184718947	chr3:119510483-119510484	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530037352	chr3:119510508-119510509	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548505161	chr3:119510512-119510513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72554010	chr3:119510536-119510537	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527531935	chr3:119510537-119510538	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551973847	chr3:119510603-119510604	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114945212	chr3:119510671-119510672	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537580057	chr3:119510676-119510677	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549464953	chr3:119510693-119510694	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568090605	chr3:119510715-119510716	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181700842	chr3:119510737-119510738	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553682283	chr3:119510761-119510762	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573481323	chr3:119510778-119510779	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530606652	chr3:119510779-119510780	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559227306	chr3:119510830-119510831	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72554011	chr3:119510863-119510864	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185786348	chr3:119510875-119510876	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562832544	chr3:119510906-119510907	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56155951	chr3:119510939-119510940	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148112725	chr3:119510941-119510942	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560507794	chr3:119510955-119510956	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527594778	chr3:119510979-119510980	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72554012	chr3:119510980-119510981	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113012837	chr3:119510996-119510997	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546868586	chr3:119511008-119511009	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549910197	chr3:119511014-119511015	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568066727	chr3:119511015-119511016	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528955074	chr3:119511016-119511017	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547094385	chr3:119511030-119511031	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370722521	chr3:119511034-119511035	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565656492	chr3:119511037-119511038	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534524294	chr3:119511083-119511084	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559290340	chr3:119511086-119511087	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571097455	chr3:119511109-119511110	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119500200-119514400	Weak transcription	Small Intestine	intestine
2	chr3:119501800-119515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:119503200-119513400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:119505200-119510600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:119505200-119511000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:119505800-119512000	Weak transcription	HepG2	liver
7	chr3:119506400-119510800	Enhancers	Liver	Liver
8	chr3:119508000-119513400	Weak transcription	Fetal Intestine Large	intestine
9	chr3:119508200-119510200	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr3:119510200-119512000	Strong transcription	Fetal Intestine Small	intestine
11	chr3:119510600-119511400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr3:119510800-119512400	Genic enhancers	Liver	Liver
13	chr3:119511000-119512400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr3:119511200-119513800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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