Variant report

Variant	nsv877566
Chromosome Location	chr3:143397740-143421221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:143419267-143419644	GM12878	blood:	n/a	n/a
2	CEBPB	chr3:143401952-143402204	IMR90	lung:	n/a	chr3:143402065-143402076
3	CEBPB	chr3:143412519-143412811	HepG2	liver:	n/a	chr3:143412765-143412778
4	CEBPB	chr3:143401932-143402181	HepG2	liver:	n/a	chr3:143402065-143402076
5	CTCF	chr3:143417040-143417190	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr3:143416940-143417090	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr3:143416960-143417110	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr3:143416880-143417030	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr3:143416920-143417070	HMEC	breast:	n/a	n/a
10	CTCF	chr3:143417022-143417031	GM19239	blood:	n/a	n/a
11	CTCF	chr3:143416960-143417110	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr3:143416945-143417116	Fibrobl	skin:	n/a	n/a
13	CTCF	chr3:143417000-143417150	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:143398380-143398530	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:143416980-143417130	BE2_C	brain:	n/a	n/a
16	CTCF	chr3:143416980-143417130	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr3:143417020-143417170	RPTEC	kidney:	n/a	n/a
18	CTCF	chr3:143416949-143417094	HepG2	liver:	n/a	n/a
19	CTCF	chr3:143416975-143417116	HepG2	liver:	n/a	n/a
20	CTCF	chr3:143416860-143417010	HMEC	breast:	n/a	n/a
21	CTCF	chr3:143416966-143417116	NHEK	skin:	n/a	n/a
22	CTCF	chr3:143416900-143417050	BE2_C	brain:	n/a	n/a
23	CTCF	chr3:143416920-143417070	HMF	breast:	n/a	n/a
24	CTCF	chr3:143416920-143417147	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:143399760-143399910	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr3:143416880-143417030	RPTEC	kidney:	n/a	n/a
27	CTCF	chr3:143416960-143417110	HepG2	liver:	n/a	n/a
28	CTCF	chr3:143416980-143417130	HCFaa	heart:	n/a	n/a
29	CTCF	chr3:143417000-143417150	HCT-116	colon:	n/a	n/a
30	CTCF	chr3:143417001-143417070	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr3:143416936-143417194	K562	blood:	n/a	n/a
32	CTCF	chr3:143398381-143398432	K562	blood:	n/a	n/a
33	CTCF	chr3:143416970-143417128	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:143416920-143417070	AG09309	skin:	n/a	n/a
35	CTCF	chr3:143414298-143414336	GM10248	blood:	n/a	n/a
36	CTCF	chr3:143417060-143417210	HRE	kidney:	n/a	n/a
37	CTCF	chr3:143416980-143417130	HMF	breast:	n/a	n/a
38	CTCF	chr3:143416980-143417130	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr3:143416955-143417082	LNCaP	prostate:	n/a	n/a
40	CTCF	chr3:143416946-143417123	Gliobla	brain:	n/a	n/a
41	CTCF	chr3:143417000-143417150	A549	lung:	n/a	n/a
42	CTCF	chr3:143416918-143417125	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:143416978-143417095	A549	lung:	n/a	n/a
44	CTCF	chr3:143400700-143400850	GM12866	blood:	n/a	n/a
45	CTCF	chr3:143416968-143417084	ProgFib	skin:	n/a	n/a
46	CTCF	chr3:143416984-143417113	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:143416909-143417048	Lung_OC	lung:	n/a	n/a
48	CTCF	chr3:143416977-143417120	K562	blood:	n/a	n/a
49	CTCF	chr3:143398320-143398470	GM12864	blood:	n/a	n/a
50	CTCF	chr3:143416964-143417118	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143409769..143412067-chr3:143414627..143417141,2	K562	blood:

No data

Variant related genes	Relation type
SLC9A9	TF binding region
ENSG00000181804	chromatin interactions

Extended variants
information (count: 907 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1900632	chr3:143397740-143397741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575668448	chr3:143397746-143397747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543032228	chr3:143397772-143397773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200601456	chr3:143397785-143397786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143861813	chr3:143397831-143397832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528981407	chr3:143397846-143397847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550678038	chr3:143397871-143397872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60700545	chr3:143397902-143397903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559323670	chr3:143397934-143397935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202128816	chr3:143397949-143397950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398091866	chr3:143397957-143397958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535631632	chr3:143397968-143397969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111942065	chr3:143398031-143398032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73007443	chr3:143398040-143398041	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570843328	chr3:143398051-143398052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559508141	chr3:143398072-143398073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1900633	chr3:143398098-143398099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147237793	chr3:143398110-143398111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36058317	chr3:143398160-143398161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563860279	chr3:143398179-143398180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6803893	chr3:143398232-143398233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540672401	chr3:143398248-143398249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186754308	chr3:143398279-143398280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539730419	chr3:143398298-143398299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189594350	chr3:143398303-143398304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115939755	chr3:143398320-143398321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536598226	chr3:143398327-143398328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555074375	chr3:143398339-143398340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573669799	chr3:143398349-143398350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540813249	chr3:143398385-143398386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559475708	chr3:143398434-143398435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577945070	chr3:143398444-143398445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563309546	chr3:143398489-143398490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563546480	chr3:143398494-143398495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530836006	chr3:143398530-143398531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550189647	chr3:143398560-143398561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7650371	chr3:143398613-143398614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529368259	chr3:143398637-143398638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547612426	chr3:143398644-143398645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566182726	chr3:143398645-143398646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371234541	chr3:143398728-143398729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539619493	chr3:143398734-143398735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551565470	chr3:143398744-143398745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569972285	chr3:143398747-143398748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7650396	chr3:143398769-143398770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555338223	chr3:143398794-143398795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181133889	chr3:143398820-143398821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140830809	chr3:143398845-143398846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116797976	chr3:143398942-143398943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577833293	chr3:143399149-143399150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143370800-143420800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143391400-143402800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:143393200-143400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:143396000-143408400	Weak transcription	Aorta	Aorta
6	chr3:143396600-143403400	Weak transcription	Fetal Lung	lung
7	chr3:143397000-143398000	Weak transcription	Liver	Liver
8	chr3:143397800-143398000	Enhancers	Gastric	stomach
9	chr3:143398000-143398200	Enhancers	Liver	Liver
10	chr3:143398000-143398200	Weak transcription	Gastric	stomach
11	chr3:143398000-143398400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:143398000-143398600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr3:143398200-143398400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:143400400-143401200	Enhancers	HSMM	muscle
15	chr3:143400600-143401000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:143400600-143401000	Enhancers	HMEC	breast
17	chr3:143400600-143401200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:143400600-143401200	Enhancers	HSMMtube	muscle
19	chr3:143401000-143409400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:143402200-143405000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:143402800-143403600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:143403200-143403400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:143403200-143403600	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:143403400-143403600	Enhancers	Brain Hippocampus Middle	brain
25	chr3:143403400-143403600	Enhancers	Fetal Lung	lung
26	chr3:143403400-143416800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:143403600-143404600	Weak transcription	Fetal Lung	lung
28	chr3:143404400-143405000	Enhancers	Fetal Stomach	stomach
29	chr3:143404600-143404800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:143404600-143406200	Enhancers	Fetal Lung	lung
31	chr3:143405000-143405400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:143405000-143405400	Weak transcription	Fetal Stomach	stomach
33	chr3:143405400-143405600	Enhancers	Fetal Stomach	stomach
34	chr3:143405400-143406000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:143405600-143405800	Enhancers	Small Intestine	intestine
36	chr3:143405600-143409800	Weak transcription	Fetal Stomach	stomach
37	chr3:143406200-143406600	Weak transcription	Fetal Lung	lung
38	chr3:143406600-143406800	Enhancers	Fetal Lung	lung
39	chr3:143406800-143407200	Weak transcription	Fetal Lung	lung
40	chr3:143407200-143407600	ZNF genes & repeats	Fetal Lung	lung
41	chr3:143407400-143410000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:143407600-143417600	Weak transcription	Fetal Lung	lung
43	chr3:143409800-143411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:143410000-143410200	Weak transcription	Left Ventricle	heart
45	chr3:143410000-143410800	Enhancers	Brain Substantia Nigra	brain
46	chr3:143410200-143410400	Enhancers	Left Ventricle	heart
47	chr3:143410200-143410800	Enhancers	Brain Angular Gyrus	brain
48	chr3:143410400-143410600	Enhancers	Small Intestine	intestine
49	chr3:143410600-143412200	Weak transcription	Small Intestine	intestine
50	chr3:143410800-143416400	Weak transcription	Brain Substantia Nigra	brain

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