Variant report

Variant	nsv602955
Chromosome Location	chr6:37581200-37599962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37592843..37595910-chr6:37605648..37608604,4	K562	blood:
2	chr6:37593545..37595641-chr6:37601090..37603984,2	K562	blood:
3	chr6:37467585..37469097-chr6:37592416..37594096,2	K562	blood:
4	chr6:37598980..37601085-chr6:37607743..37610334,2	K562	blood:
5	chr6:37590338..37593047-chr6:37604192..37605778,2	K562	blood:
6	chr6:37536776..37539580-chr6:37592890..37596522,3	MCF-7	breast:
7	chr6:37592829..37595564-chr6:37597179..37600558,4	MCF-7	breast:
8	chr6:37599758..37602608-chr6:37603760..37606026,2	MCF-7	breast:
9	chr6:37550216..37553079-chr6:37579897..37582643,2	MCF-7	breast:
10	chr6:37579109..37581882-chr6:37590162..37592483,2	MCF-7	breast:
11	chr6:37590156..37593424-chr6:37597234..37601597,4	K562	blood:
12	chr6:37597500..37600004-chr6:37601330..37604250,3	K562	blood:
13	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:
14	chr6:37589204..37591463-chr6:37593402..37596526,3	K562	blood:
15	chr6:37592329..37594327-chr6:37602082..37603969,2	MCF-7	breast:
16	chr6:37589204..37591463-chr6:37593402..37596526,3	K562	blood:
17	chr6:37587258..37590079-chr6:37590589..37593405,2	K562	blood:
18	chr6:37590156..37593424-chr6:37597234..37601597,4	K562	blood:
19	chr6:37592829..37595564-chr6:37597179..37600558,4	MCF-7	breast:
20	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:
21	chr6:37583937..37586472-chr6:37588985..37590758,2	K562	blood:
22	chr6:37587258..37590079-chr6:37590589..37593405,2	K562	blood:
23	chr6:37595649..37598342-chr6:37615831..37618707,2	K562	blood:
24	chr6:37591872..37593906-chr6:37631724..37634483,2	K562	blood:
25	chr6:37577073..37579849-chr6:37580554..37582245,2	K562	blood:
26	chr6:37583937..37586472-chr6:37588985..37590758,2	K562	blood:
27	chr6:37568344..37572932-chr6:37584973..37589083,4	K562	blood:
28	chr6:37581243..37582863-chr6:37586444..37588975,2	K562	blood:
29	chr6:37581243..37582863-chr6:37586444..37588975,2	K562	blood:
30	chr6:37579109..37581882-chr6:37590162..37592483,2	MCF-7	breast:
31	chr6:37576514..37579539-chr6:37585884..37588412,3	K562	blood:
32	chr6:37575521..37577544-chr6:37596904..37599235,2	K562	blood:
33	chr6:37596331..37599746-chr6:37605626..37607934,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353597.1-7	chr6:37592542-37592695	l_3176_chr6:37592541-37610103_whiteBloodCell

No data

Variant related genes	Relation type
ENSG00000198937	chromatin interactions
ENSG00000112139	chromatin interactions

Extended variants
information (count: 757 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13219089	chr6:37581200-37581201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs804856	chr6:37581280-37581281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs811703	chr6:37581287-37581288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559248246	chr6:37581334-37581335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572382583	chr6:37581365-37581366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539876373	chr6:37581377-37581378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375972471	chr6:37581405-37581406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553374675	chr6:37581413-37581414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35488046	chr6:37581421-37581422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578146599	chr6:37581484-37581485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149965196	chr6:37581512-37581513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562434723	chr6:37581540-37581541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531582701	chr6:37581569-37581570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544857339	chr6:37581571-37581572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565220867	chr6:37581593-37581594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112103124	chr6:37581644-37581645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547683267	chr6:37581667-37581668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567665748	chr6:37581677-37581678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558721670	chr6:37581678-37581679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530074311	chr6:37581687-37581688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201661390	chr6:37581704-37581705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550290060	chr6:37581712-37581713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570048421	chr6:37581714-37581715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539248700	chr6:37581715-37581716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558868783	chr6:37581726-37581727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565907492	chr6:37581798-37581799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114917245	chr6:37581800-37581801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190479761	chr6:37581837-37581838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570251353	chr6:37581849-37581850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369003924	chr6:37581857-37581858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377574133	chr6:37581896-37581897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573343881	chr6:37581916-37581917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535897879	chr6:37581917-37581918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542257627	chr6:37582041-37582042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371107195	chr6:37582079-37582080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139834795	chr6:37582096-37582097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7741051	chr6:37582109-37582110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1738447	chr6:37582149-37582150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565095490	chr6:37582163-37582164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572220901	chr6:37582187-37582188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541340662	chr6:37582303-37582304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561154735	chr6:37582342-37582343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115437757	chr6:37582346-37582347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549883170	chr6:37582348-37582349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563839434	chr6:37582350-37582351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146696267	chr6:37582434-37582435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397766358	chr6:37582461-37582462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569631520	chr6:37582467-37582468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538418826	chr6:37582470-37582471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72846568	chr6:37582511-37582512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37580600-37583200	Weak transcription	NH-A	brain
2	chr6:37581200-37581400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:37581200-37581400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:37581200-37584400	Enhancers	K562	blood
5	chr6:37581400-37582600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:37581800-37582800	Enhancers	Fetal Thymus	thymus
7	chr6:37582200-37582600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:37582200-37582800	Enhancers	Dnd41	blood
9	chr6:37582600-37582800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:37582600-37583600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37582600-37583600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:37582600-37584400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:37582800-37583200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:37582800-37584000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:37583000-37583200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr6:37583000-37583400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr6:37583000-37584000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:37583000-37584200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:37583000-37584400	Enhancers	Osteobl	bone
20	chr6:37583200-37583400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:37583200-37583400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:37583200-37583800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:37583200-37583800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr6:37583200-37584400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:37583200-37584400	Enhancers	NHDF-Ad	bronchial
26	chr6:37583200-37584600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:37583200-37584800	Enhancers	NH-A	brain
28	chr6:37583200-37587200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:37583400-37583600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr6:37583400-37584000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:37583400-37584200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:37583400-37584200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:37583400-37584400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:37583600-37583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:37583600-37584000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:37583600-37584600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:37583600-37587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:37583800-37584600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:37583800-37584600	Enhancers	Hela-S3	cervix
40	chr6:37583800-37586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:37584000-37584400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:37584200-37584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:37584200-37584800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr6:37584400-37584600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:37584400-37584600	Enhancers	Fetal Brain Male	brain
46	chr6:37584400-37584600	Bivalent Enhancer	K562	blood
47	chr6:37584400-37590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:37584600-37584800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:37584600-37585200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:37584800-37586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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