Variant report

Variant	esv3393402
Chromosome Location	chr6:49668493-49671041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49603681..49605902-chr6:49666870..49669285,2	K562	blood:
2	chr6:49669924..49672253-chr6:49702839..49705268,2	MCF-7	breast:
3	chr6:49632622..49635202-chr6:49667293..49669736,2	K562	blood:

Variant related genes	Relation type
ENSG00000096006	chromatin interactions
ENSG00000112077	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539160970	chr6:49668523-49668524	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182644252	chr6:49668536-49668537	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371733269	chr6:49668545-49668546	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187537339	chr6:49668583-49668584	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138084148	chr6:49668618-49668619	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563069055	chr6:49668632-49668633	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113440602	chr6:49668690-49668691	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74800436	chr6:49668743-49668744	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs780447	chr6:49668790-49668791	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73437867	chr6:49668805-49668806	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192814232	chr6:49668806-49668807	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564599486	chr6:49668814-49668815	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143647274	chr6:49668823-49668824	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531636047	chr6:49668825-49668826	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550131603	chr6:49668831-49668832	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568427829	chr6:49668904-49668905	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528454300	chr6:49668905-49668906	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535767576	chr6:49668938-49668939	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1089535	chr6:49668956-49668957	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577022142	chr6:49668962-49668963	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148496285	chr6:49669199-49669200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370540893	chr6:49669212-49669213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541360617	chr6:49669213-49669214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546079618	chr6:49669234-49669235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559437499	chr6:49669236-49669237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62413607	chr6:49669238-49669239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7767611	chr6:49669240-49669241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553634563	chr6:49669291-49669292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183836406	chr6:49669303-49669304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569714210	chr6:49669309-49669310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199692285	chr6:49669324-49669325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145331658	chr6:49669330-49669331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1089531	chr6:49669331-49669332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3056357	chr6:49669333-49669334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188902092	chr6:49669359-49669360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112230605	chr6:49669360-49669361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554958726	chr6:49669361-49669362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573274654	chr6:49669362-49669363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192531703	chr6:49669388-49669389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554033020	chr6:49669402-49669403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1089532	chr6:49669417-49669418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572596548	chr6:49669437-49669438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546356862	chr6:49669440-49669441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564457487	chr6:49669443-49669444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531846136	chr6:49669454-49669455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184432808	chr6:49669462-49669463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146769013	chr6:49669465-49669466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529262433	chr6:49669483-49669484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139204151	chr6:49669503-49669504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189135880	chr6:49669504-49669505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49667400-49669000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
2	chr6:49669000-49672600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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