Variant report

Variant	esv1830086
Chromosome Location	chr6:57515450-57635077
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:1906473..1906973-chr6:57539499..57540003,2	MCF-7	breast:
2	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
3	chr3:81978758..81979420-chr6:57518103..57518962,2	MCF-7	breast:
4	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
5	chr11:17753668..17754453-chr6:57615850..57616702,2	MCF-7	breast:
6	chr6:57541185..57543919-chr8:104728155..104729992,2	MCF-7	breast:
7	chr6:57217129..57218039-chr6:57539079..57539990,3	MCF-7	breast:
8	chr5:21570110..21571992-chr6:57575867..57577390,2	K562	blood:
9	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-12	chr6:57543887-57544127	NONHSAT113297
2	lnc-RAB23-12	chr6:57551484-57551584	NONHSAT113297

No data

Variant related genes	Relation type
ENSG00000263745	chromatin interactions

Extended variants
information (count: 4908 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4908 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62403003	chr6:57515463-57515464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573366467	chr6:57515497-57515498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5001835	chr6:57515508-57515509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35121943	chr6:57515509-57515510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570584025	chr6:57515555-57515556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9370654	chr6:57515560-57515561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9370655	chr6:57515583-57515584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534540283	chr6:57515597-57515598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35347857	chr6:57515604-57515605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553017005	chr6:57515607-57515608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574629658	chr6:57515621-57515622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62403004	chr6:57515636-57515637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79298793	chr6:57515652-57515653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62403005	chr6:57515658-57515659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62403006	chr6:57515669-57515670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3957406	chr6:57515720-57515721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78779357	chr6:57515741-57515742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535437612	chr6:57515742-57515743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76660474	chr6:57515749-57515750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3996792	chr6:57515759-57515760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2397632	chr6:57515765-57515766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575838763	chr6:57515766-57515767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3996793	chr6:57515768-57515769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546437000	chr6:57515776-57515777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3996794	chr6:57515800-57515801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11292500	chr6:57515828-57515829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1853507	chr6:57515861-57515862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79583176	chr6:57515879-57515880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564629271	chr6:57515881-57515882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80137320	chr6:57515882-57515883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573356736	chr6:57515883-57515884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3957407	chr6:57515918-57515919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58004062	chr6:57515927-57515928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568387206	chr6:57515928-57515929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398065856	chr6:57515929-57515930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540484224	chr6:57515947-57515948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386701665	chr6:57515952-57515953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2397947	chr6:57515953-57515954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548203161	chr6:57515966-57515967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7744409	chr6:57515986-57515987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563310903	chr6:57516000-57516001	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371444651	chr6:57516028-57516029	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530432624	chr6:57516036-57516037	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74540046	chr6:57516057-57516058	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139584469	chr6:57516058-57516059	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552399623	chr6:57516063-57516064	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10576397	chr6:57516065-57516066	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570673070	chr6:57516068-57516069	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56194330	chr6:57516069-57516070	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534802776	chr6:57516105-57516106	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57503200-57517200	Weak transcription	GM12878-XiMat	blood
2	chr6:57511000-57517600	Weak transcription	Pancreas	Pancrea
3	chr6:57513000-57516200	Weak transcription	Dnd41	blood
4	chr6:57514600-57516600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:57516000-57516200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57516200-57516400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:57516200-57516600	ZNF genes & repeats	Aorta	Aorta
8	chr6:57516200-57516600	Enhancers	Dnd41	blood
9	chr6:57516400-57516600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:57516600-57517600	Weak transcription	Aorta	Aorta
11	chr6:57517600-57517800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr6:57517600-57517800	ZNF genes & repeats	Pancreas	Pancrea
13	chr6:57517600-57518200	ZNF genes & repeats	Aorta	Aorta
14	chr6:57517600-57518400	ZNF genes & repeats	NHLF	lung
15	chr6:57517800-57519200	Weak transcription	Pancreas	Pancrea
16	chr6:57519200-57519800	ZNF genes & repeats	Pancreas	Pancrea
17	chr6:57521200-57521800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:57521400-57521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:57521800-57522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:57521800-57524000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:57521800-57524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:57522200-57522400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:57522200-57522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:57522200-57522600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:57524000-57524800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:57524200-57524400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:57524200-57524400	ZNF genes & repeats	Aorta	Aorta
28	chr6:57524400-57525200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:57524400-57525200	Weak transcription	Aorta	Aorta
30	chr6:57525200-57525400	Bivalent Enhancer	Aorta	Aorta
31	chr6:57525200-57525400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr6:57525200-57526200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:57525200-57526400	Enhancers	Osteobl	bone
34	chr6:57525800-57526400	Active TSS	Fetal Heart	heart
35	chr6:57526200-57527600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:57527400-57527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:57527600-57528200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:57529200-57529400	ZNF genes & repeats	Esophagus	oesophagus
39	chr6:57529200-57532600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:57530000-57530600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr6:57530000-57530600	ZNF genes & repeats	Fetal Lung	lung
42	chr6:57532200-57532800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:57532800-57533000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:57532800-57534200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:57533000-57538200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:57533400-57534000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:57534200-57534400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:57534200-57534400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:57534200-57534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:57534200-57534600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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