Variant report

Variant	esv33852
Chromosome Location	chr6:24331709-24334480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24327848..24330728-chr6:24332422..24334175,2	K562	blood:
2	chr6:24333030..24335051-chr6:24339193..24343115,3	MCF-7	breast:
3	chr6:24329272..24332186-chr6:24354451..24356131,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142719205	chr6:24331730-24331731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566904262	chr6:24331748-24331749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532447791	chr6:24331750-24331751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552288113	chr6:24331757-24331758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569026869	chr6:24331790-24331791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184814901	chr6:24331812-24331813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571322695	chr6:24331828-24331829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2185597	chr6:24331829-24331830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146075948	chr6:24331914-24331915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534551639	chr6:24331952-24331953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552694278	chr6:24331957-24331958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572907459	chr6:24332235-24332236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545035049	chr6:24332250-24332251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558654894	chr6:24332264-24332265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139968115	chr6:24332293-24332294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544034679	chr6:24332299-24332300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561176487	chr6:24332459-24332460	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190144180	chr6:24332466-24332467	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72555600	chr6:24332495-24332496	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5874975	chr6:24332496-24332497	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs33933968	chr6:24332497-24332498	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193128573	chr6:24332504-24332505	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185599898	chr6:24332519-24332520	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532338030	chr6:24332543-24332544	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552175927	chr6:24332566-24332567	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376592272	chr6:24332657-24332658	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568965511	chr6:24332661-24332662	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189338200	chr6:24332765-24332766	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77743903	chr6:24332778-24332779	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143518736	chr6:24332851-24332852	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534207938	chr6:24332900-24332901	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530580052	chr6:24332909-24332910	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571180412	chr6:24332935-24332936	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528230855	chr6:24332937-24332938	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180959476	chr6:24333010-24333011	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558593595	chr6:24333057-24333058	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185433493	chr6:24333075-24333076	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72833016	chr6:24333081-24333082	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188228011	chr6:24333096-24333097	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550787158	chr6:24333106-24333107	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540071074	chr6:24333112-24333113	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559987977	chr6:24333117-24333118	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532190695	chr6:24333123-24333124	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545756233	chr6:24333131-24333132	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562574853	chr6:24333195-24333196	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151190021	chr6:24333206-24333207	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548707379	chr6:24333223-24333224	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562130472	chr6:24333298-24333299	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12661152	chr6:24333304-24333305	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548034734	chr6:24333325-24333326	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24324400-24332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:24324600-24332000	Weak transcription	HMEC	breast
3	chr6:24324600-24332200	Weak transcription	HSMMtube	muscle
4	chr6:24327400-24339200	Weak transcription	Pancreas	Pancrea
5	chr6:24329600-24332200	Weak transcription	NH-A	brain
6	chr6:24330000-24332200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:24330200-24338400	Weak transcription	Fetal Intestine Large	intestine
8	chr6:24330400-24332400	Enhancers	HepG2	liver
9	chr6:24330600-24331800	Enhancers	Fetal Kidney	kidney
10	chr6:24330800-24332200	Weak transcription	NHEK	skin
11	chr6:24331000-24334200	Enhancers	A549	lung
12	chr6:24331800-24332200	Weak transcription	Fetal Kidney	kidney
13	chr6:24332000-24332600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:24332000-24333800	Enhancers	HMEC	breast
15	chr6:24332200-24332800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:24332200-24333200	Enhancers	Fetal Kidney	kidney
17	chr6:24332200-24333400	Enhancers	HSMMtube	muscle
18	chr6:24332200-24333400	Enhancers	NH-A	brain
19	chr6:24332200-24333600	Enhancers	NHEK	skin
20	chr6:24332200-24334400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:24332400-24332600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:24332400-24333200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:24332400-24333200	Enhancers	HSMM	muscle
24	chr6:24332400-24333400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:24332400-24333400	Enhancers	Hela-S3	cervix
26	chr6:24332400-24335200	Genic enhancers	HepG2	liver
27	chr6:24332600-24333200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:24332600-24338600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:24332800-24333000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:24333000-24334400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:24333200-24334200	Genic enhancers	Fetal Kidney	kidney
32	chr6:24334200-24334800	Strong transcription	Fetal Kidney	kidney
33	chr6:24334200-24334800	Weak transcription	A549	lung
34	chr6:24334400-24335000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:24334400-24339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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