Variant report

Variant	nsv601476
Chromosome Location	chr6:30085838-30091311
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	chr6:30087147-30087431	K562	blood:	n/a	n/a
2	CEBPB	chr6:30090364-30090555	Hela-S3	cervix:	n/a	chr6:30090400-30090411
3	CEBPB	chr6:30087150-30087401	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:30090297-30090497	HepG2	liver:	n/a	chr6:30090400-30090411
5	CTCF	chr6:30089480-30089630	HepG2	liver:	n/a	n/a
6	CTCF	chr6:30089580-30089730	HEK293	kidney:	n/a	chr6:30089622-30089635
7	CTCF	chr6:30089593-30089679	Hela-S3	cervix:	n/a	chr6:30089622-30089635
8	CTCF	chr6:30089540-30089690	NHDF-neo	bronchial:	n/a	chr6:30089622-30089635
9	CTCF	chr6:30089580-30089730	HCFaa	heart:	n/a	chr6:30089622-30089635
10	CTCF	chr6:30089540-30089690	Hela-S3	cervix:	n/a	chr6:30089622-30089635
11	EP300	chr6:30086291-30086314	K562	blood:	n/a	n/a
12	FOS	chr6:30090446-30090745	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:30090545-30090746	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:30090457-30090666	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr6:30090468-30090743	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:30086907-30087060	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr6:30086994-30087058	MCF10A-Er-Src	breast:	n/a	n/a
18	JUN	chr6:30087049-30087188	K562	blood:	n/a	n/a
19	RPC155	chr6:30089779-30090138	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr6:30090528-30090529	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30091019..30094481-chr6:30095201..30099363,3	K562	blood:
2	chr6:30090894..30093149-chr6:30095550..30098193,2	K562	blood:
3	chr6:30089484..30091081-chr6:30092185..30094762,2	K562	blood:
4	chr6:30079728..30082386-chr6:30085707..30087606,2	MCF-7	breast:
5	chr6:30029228..30033267-chr6:30087715..30091660,3	MCF-7	breast:
6	chr6:30079648..30081334-chr6:30091309..30093049,2	MCF-7	breast:
7	chr6:30083851..30086480-chr6:30123012..30125789,2	MCF-7	breast:

Variant related genes	Relation type
TRIM31	TF binding region
ENSG00000204623	chromatin interactions
ENSG00000204616	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574394666	chr6:30085839-30085840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9501425	chr6:30085862-30085863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115989352	chr6:30085869-30085870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114841766	chr6:30085872-30085873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559855831	chr6:30085963-30085964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565342938	chr6:30086124-30086125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531037963	chr6:30086253-30086254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550844423	chr6:30086317-30086318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557399279	chr6:30086339-30086340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184354904	chr6:30086376-30086377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113620300	chr6:30086413-30086414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9261431	chr6:30086422-30086423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538414383	chr6:30086431-30086432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143355804	chr6:30086506-30086507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568563567	chr6:30086507-30086508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9261432	chr6:30086629-30086630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141635535	chr6:30086632-30086633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375851017	chr6:30086633-30086634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554404508	chr6:30086641-30086642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193289121	chr6:30086645-30086646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539875412	chr6:30086649-30086650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553674574	chr6:30086655-30086656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149193270	chr6:30086679-30086680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573594182	chr6:30086689-30086690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545576875	chr6:30086692-30086693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565476723	chr6:30086696-30086697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546613376	chr6:30086700-30086701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149881984	chr6:30086704-30086705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374849453	chr6:30086705-30086706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2517594	chr6:30086708-30086709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143321491	chr6:30086712-30086713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561255037	chr6:30086716-30086717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62390203	chr6:30086720-30086721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560228314	chr6:30086724-30086725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs66467436	chr6:30086728-30086729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9280899	chr6:30086745-30086746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374931526	chr6:30086759-30086760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369353293	chr6:30086771-30086772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185526488	chr6:30086775-30086776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532279899	chr6:30086779-30086780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142708577	chr6:30086789-30086790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150741646	chr6:30086808-30086809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189111605	chr6:30086821-30086822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548242845	chr6:30086831-30086832	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181368138	chr6:30086860-30086861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185493157	chr6:30086911-30086912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139109476	chr6:30086914-30086915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9261433	chr6:30086927-30086928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs188401682	chr6:30086965-30086966	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180950715	chr6:30087132-30087133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30082000-30089400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:30082200-30086400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:30082200-30087400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:30082400-30087200	Weak transcription	Hela-S3	cervix
5	chr6:30082400-30091000	Weak transcription	HepG2	liver
6	chr6:30082600-30086400	Weak transcription	Stomach Mucosa	stomach
7	chr6:30082600-30086400	Weak transcription	A549	lung
8	chr6:30082800-30086200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:30082800-30086200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:30086000-30086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:30086200-30088000	Enhancers	Fetal Intestine Large	intestine
12	chr6:30086200-30092600	Enhancers	Fetal Intestine Small	intestine
13	chr6:30086400-30087600	Enhancers	Stomach Mucosa	stomach
14	chr6:30086400-30087600	Enhancers	A549	lung
15	chr6:30086400-30088000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:30086800-30087600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:30087000-30087200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30087200-30087600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:30087200-30087600	Enhancers	Osteobl	bone
20	chr6:30087200-30088000	Enhancers	Hela-S3	cervix
21	chr6:30087200-30088000	Enhancers	NHDF-Ad	bronchial
22	chr6:30087400-30087600	Enhancers	Colonic Mucosa	Colon
23	chr6:30087400-30088000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:30087400-30088200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr6:30087400-30090600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:30087600-30089200	Weak transcription	Colonic Mucosa	Colon
27	chr6:30087600-30089400	Weak transcription	Stomach Mucosa	stomach
28	chr6:30087600-30089600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30088000-30089000	Weak transcription	Fetal Intestine Large	intestine
30	chr6:30088000-30089200	Weak transcription	Hela-S3	cervix
31	chr6:30088000-30089400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:30088000-30089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:30088000-30089800	Weak transcription	NHDF-Ad	bronchial
34	chr6:30088200-30089400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:30089000-30092600	Enhancers	Fetal Intestine Large	intestine
36	chr6:30089200-30089800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr6:30089200-30090400	Enhancers	Colonic Mucosa	Colon
38	chr6:30089200-30092400	Enhancers	Hela-S3	cervix
39	chr6:30089400-30089600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:30089400-30090600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr6:30089400-30091000	Enhancers	Stomach Mucosa	stomach
42	chr6:30089400-30092400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:30089400-30092600	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:30089600-30089800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr6:30089600-30091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:30089800-30090800	Enhancers	NHDF-Ad	bronchial
47	chr6:30090400-30091200	Weak transcription	Colonic Mucosa	Colon
48	chr6:30090600-30091000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:30090600-30091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:30091000-30091200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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