Variant report

Variant	nsv461209
Chromosome Location	chr4:7525739-7544879
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7539171..7539671-chr6:30709977..30710667,2	Hela-S3	cervix:
2	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
3	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:
4	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:
5	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:
6	chr12:13044402..13044911-chr4:7539151..7539651,2	Hela-S3	cervix:
7	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
8	chr15:41624966..41625477-chr4:7539151..7539651,2	Hela-S3	cervix:
9	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:
10	chr4:7513451..7515620-chr4:7531524..7533326,2	K562	blood:
11	chr4:7535311..7535864-chr4:7556278..7556945,2	MCF-7	breast:
12	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
13	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:

No data

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

Extended variants
information (count: 1070 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6840716	chr4:7525739-7525740	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs16840464	chr4:7525792-7525793	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs58205752	chr4:7525814-7525815	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs529143100	chr4:7525819-7525820	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs563309017	chr4:7525831-7525832	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs550854172	chr4:7525838-7525839	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs192206693	chr4:7525841-7525842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184274979	chr4:7525856-7525857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs551193245	chr4:7525878-7525879	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566604045	chr4:7525894-7525895	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs534048648	chr4:7525988-7525989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs78260918	chr4:7525991-7525992	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs559188868	chr4:7526014-7526015	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140765393	chr4:7526053-7526054	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10937833	chr4:7526068-7526069	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556813726	chr4:7526156-7526157	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555587407	chr4:7526179-7526180	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376938329	chr4:7526181-7526182	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4234824	chr4:7526187-7526188	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545603172	chr4:7526200-7526201	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560698724	chr4:7526229-7526230	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528131278	chr4:7526236-7526237	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143307304	chr4:7526293-7526294	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531050537	chr4:7526312-7526313	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370792880	chr4:7526313-7526314	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80000160	chr4:7526314-7526315	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77817194	chr4:7526317-7526318	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567884455	chr4:7526319-7526320	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71647611	chr4:7526324-7526325	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115287107	chr4:7526346-7526347	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562783193	chr4:7526367-7526368	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187264651	chr4:7526380-7526381	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551133176	chr4:7526383-7526384	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10002208	chr4:7526385-7526386	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533987742	chr4:7526417-7526418	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569742570	chr4:7526432-7526433	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567701738	chr4:7526433-7526434	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538229229	chr4:7526440-7526441	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556317537	chr4:7526456-7526457	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7659246	chr4:7526469-7526470	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78558100	chr4:7526509-7526510	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117659492	chr4:7526514-7526515	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146662815	chr4:7526518-7526519	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4689775	chr4:7526522-7526523	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192600811	chr4:7526559-7526560	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543289801	chr4:7526599-7526600	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185390433	chr4:7526600-7526601	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559622883	chr4:7526603-7526604	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140260519	chr4:7526636-7526637	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544170910	chr4:7526644-7526645	Weak transcription Bivalent Enhancer Enhancers	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:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:7523800-7525800	Enhancers	Brain Germinal Matrix	brain
3	chr4:7524800-7527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:7525000-7526200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7525000-7526800	Bivalent Enhancer	HepG2	liver
6	chr4:7525200-7526800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr4:7525200-7527000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr4:7525600-7526000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:7525600-7526600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:7525600-7526800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:7525600-7527200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:7525800-7526000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:7525800-7526000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
14	chr4:7525800-7527200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:7525800-7527400	Enhancers	Ovary	ovary
16	chr4:7525800-7529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:7526000-7526200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7526000-7526200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:7526000-7526200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:7526000-7526200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:7526000-7526200	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr4:7526000-7526200	Bivalent Enhancer	Fetal Lung	lung
23	chr4:7526000-7526400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr4:7526000-7526600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr4:7526000-7526600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr4:7526200-7527200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:7526200-7527400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:7526200-7528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:7526400-7526800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr4:7526400-7527400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr4:7526600-7526800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:7526800-7527000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:7526800-7527400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:7527200-7527400	Enhancers	Brain Germinal Matrix	brain
35	chr4:7527400-7527600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr4:7528800-7529400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:7528800-7529600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:7528800-7529800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7528800-7530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:7528800-7532400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:7529000-7529400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:7529200-7529400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:7529200-7529800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:7529200-7530000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:7529400-7529600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:7529400-7529600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:7529400-7529800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:7529400-7530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:7529400-7530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:7529400-7534400	Enhancers	HUES6 Cell Line	embryonic stem cell

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