Variant report

Variant	nsv981136
Chromosome Location	chr6:37012733-37013785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
2	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:

Variant related genes	Relation type
ENSG00000137193	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550857689	chr6:37012741-37012742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs41272212	chr6:37012780-37012781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201195794	chr6:37012781-37012782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202223736	chr6:37012828-37012829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548666423	chr6:37012836-37012837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565734384	chr6:37012849-37012850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200408444	chr6:37012868-37012869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374874342	chr6:37012876-37012877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4775	chr6:37012883-37012884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189751312	chr6:37012884-37012885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61752356	chr6:37012912-37012913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540456820	chr6:37012924-37012925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13747	chr6:37012940-37012941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568712282	chr6:37012960-37012961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201054584	chr6:37012961-37012962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554681039	chr6:37012988-37012989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574683513	chr6:37013018-37013019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34248966	chr6:37013032-37013033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560069385	chr6:37013060-37013061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386700222	chr6:37013125-37013126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2692879	chr6:37013127-37013128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374438840	chr6:37013165-37013166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181275214	chr6:37013199-37013200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546188513	chr6:37013212-37013213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185525014	chr6:37013253-37013254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146683447	chr6:37013257-37013258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190675089	chr6:37013271-37013272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114488672	chr6:37013341-37013342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530998425	chr6:37013356-37013357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550767258	chr6:37013362-37013363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9470466	chr6:37013369-37013370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533461586	chr6:37013407-37013408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35407791	chr6:37013449-37013450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547305998	chr6:37013466-37013467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565519794	chr6:37013481-37013482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181494658	chr6:37013490-37013491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80219701	chr6:37013600-37013601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564710456	chr6:37013605-37013606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577337420	chr6:37013668-37013669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187310755	chr6:37013739-37013740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537193996	chr6:37013760-37013761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557212454	chr6:37013783-37013784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:36997400-37013800	Weak transcription	Esophagus	oesophagus
3	chr6:37000400-37015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:37002400-37014400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:37006800-37016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:37006800-37016800	Weak transcription	Right Atrium	heart
7	chr6:37007800-37015200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:37008000-37013800	Weak transcription	Pancreas	Pancrea
9	chr6:37008000-37015200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:37008000-37015600	Weak transcription	GM12878-XiMat	blood
11	chr6:37008200-37015400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:37008600-37015000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:37010000-37013200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:37010000-37013400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:37010000-37013600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:37010000-37013800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:37010200-37013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:37010200-37013600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:37010200-37013800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:37010400-37013200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:37010400-37013200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:37010400-37013400	Weak transcription	Dnd41	blood
23	chr6:37010400-37013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:37010400-37013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:37010800-37013200	Weak transcription	K562	blood
26	chr6:37013200-37016000	Enhancers	K562	blood
27	chr6:37013200-37016200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:37013200-37016400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:37013200-37016600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:37013200-37017000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:37013400-37015800	Enhancers	Dnd41	blood
32	chr6:37013400-37016200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:37013600-37016600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:37013600-37016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:37013600-37016800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:37013600-37016800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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