Variant report

Variant	nsv528667
Chromosome Location	chr4:7533674-7547547
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:13044402..13044911-chr4:7539151..7539651,2	Hela-S3	cervix:
2	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:
3	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:
4	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:
5	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
6	chr4:7535311..7535864-chr4:7556278..7556945,2	MCF-7	breast:
7	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
8	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:
9	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:
10	chr4:7539171..7539671-chr6:30709977..30710667,2	Hela-S3	cervix:
11	chr15:41624966..41625477-chr4:7539151..7539651,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000013588	chromatin interactions
ENSG00000137804	chromatin interactions
ENSG00000137312	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:758 , 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	rs10021708	chr4:7533674-7533675	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114227888	chr4:7533682-7533683	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs573483527	chr4:7533703-7533704	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs112146364	chr4:7533712-7533713	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs191390238	chr4:7533726-7533727	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs555696559	chr4:7533727-7533728	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs374506624	chr4:7533730-7533731	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs73082890	chr4:7533733-7533734	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563420261	chr4:7533734-7533735	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs570893719	chr4:7533748-7533749	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs545849967	chr4:7533752-7533753	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs139025656	chr4:7533753-7533754	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs556115771	chr4:7533786-7533787	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs528399387	chr4:7533788-7533789	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs546740929	chr4:7533802-7533803	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs568172783	chr4:7533823-7533824	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs529305488	chr4:7533845-7533846	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs550648908	chr4:7533860-7533861	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs184335636	chr4:7533862-7533863	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs551836245	chr4:7533867-7533868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs538327799	chr4:7533880-7533881	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs539435872	chr4:7533889-7533890	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs10021929	chr4:7533895-7533896	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556429587	chr4:7533904-7533905	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs189473483	chr4:7533913-7533914	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs555890554	chr4:7533919-7533920	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs574276480	chr4:7533936-7533937	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs74719619	chr4:7533952-7533953	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs557071265	chr4:7534030-7534031	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs112359318	chr4:7534107-7534108	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs10022229	chr4:7534156-7534157	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs367853182	chr4:7534179-7534180	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs10022240	chr4:7534194-7534195	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142116122	chr4:7534298-7534299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540163731	chr4:7534332-7534333	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73089774	chr4:7534333-7534334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146358775	chr4:7534370-7534371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs386671247	chr4:7534396-7534397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550398925	chr4:7534431-7534432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568594674	chr4:7534446-7534447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73214631	chr4:7534447-7534448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74652399	chr4:7534449-7534450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555906449	chr4:7534462-7534463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185227826	chr4:7534486-7534487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138443034	chr4:7534554-7534555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534240250	chr4:7534555-7534556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141679405	chr4:7534556-7534557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567987869	chr4:7534581-7534582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs6812745	chr4:7534603-7534604	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556810335	chr4:7534610-7534611	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7529400-7534400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:7530800-7534200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:7530800-7535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:7531600-7540800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:7532400-7534200	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr4:7532800-7533800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:7532800-7534400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:7533000-7534000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:7533000-7536600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:7533200-7533800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:7533200-7534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:7533200-7534000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:7533200-7534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:7533200-7534400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:7533200-7534400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:7533200-7534400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7533400-7533800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr4:7533400-7534000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:7533400-7534000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:7533400-7535000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:7533400-7535600	Weak transcription	Fetal Stomach	stomach
22	chr4:7533400-7535800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:7533600-7542800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:7534200-7535000	Flanking Active TSS	HepG2	liver
25	chr4:7534400-7536400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7534600-7535400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr4:7534800-7535400	Enhancers	Placenta	Placenta
28	chr4:7535000-7535600	Enhancers	HepG2	liver
29	chr4:7535400-7535600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:7535600-7535800	Strong transcription	Fetal Stomach	stomach
31	chr4:7535600-7536600	Weak transcription	HepG2	liver
32	chr4:7535800-7536400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:7535800-7537000	ZNF genes & repeats	Fetal Stomach	stomach
34	chr4:7536400-7536800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:7536400-7538200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:7536800-7542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7537800-7538200	Enhancers	Spleen	Spleen
38	chr4:7538200-7540800	Weak transcription	Spleen	Spleen
39	chr4:7538400-7540000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:7539200-7541200	Enhancers	Liver	Liver
41	chr4:7539600-7540600	Enhancers	HepG2	liver
42	chr4:7540000-7541200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:7540000-7541200	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:7540000-7541400	Enhancers	Ovary	ovary
45	chr4:7540400-7540600	Active TSS	Hela-S3	cervix
46	chr4:7540600-7540800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:7540600-7540800	Weak transcription	HepG2	liver
48	chr4:7540600-7541400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:7540600-7541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:7540600-7541400	Flanking Active TSS	Hela-S3	cervix

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