Variant report

Variant	nsv593465
Chromosome Location	chr4:3719380-3750155
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3719651..3722174-chr4:3722524..3724517,2	K562	blood:
2	chr4:3532686..3534956-chr4:3746857..3748482,2	MCF-7	breast:
3	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
4	chr4:3715270..3718190-chr4:3721526..3723393,2	K562	blood:
5	chr4:3732007..3734071-chr4:3734519..3736771,2	K562	blood:
6	chr4:3750111..3752894-chr4:3765280..3767505,2	MCF-7	breast:
7	chr4:3747628..3750191-chr4:3756565..3759403,2	K562	blood:
8	chr4:3728407..3730608-chr4:3954837..3956442,2	K562	blood:
9	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
10	chr4:3719651..3722174-chr4:3722524..3724517,2	K562	blood:
11	chr4:3733497..3735289-chr4:3740604..3743171,2	MCF-7	breast:
12	chr4:3748965..3749720-chr4:3785547..3786123,2	MCF-7	breast:
13	chr4:3720840..3724300-chr4:3724381..3726602,3	MCF-7	breast:
14	chr4:3729899..3732092-chr4:3767208..3768839,2	MCF-7	breast:
15	chr4:3735978..3737529-chr4:3738180..3741033,2	K562	blood:
16	chr4:3733497..3735289-chr4:3740604..3743171,2	MCF-7	breast:
17	chr4:3731863..3733557-chr4:3747295..3749837,2	MCF-7	breast:
18	chr4:3732007..3734071-chr4:3734519..3736771,2	K562	blood:
19	chr4:3731474..3733507-chr4:3734661..3736771,2	K562	blood:
20	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
21	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
22	chr4:3746433..3747987-chr4:3763724..3766241,2	MCF-7	breast:
23	chr4:3732579..3734832-chr4:3738622..3741256,2	K562	blood:
24	chr4:3731863..3733557-chr4:3747295..3749837,2	MCF-7	breast:
25	chr4:3743213..3745544-chr4:3747612..3750605,2	K562	blood:
26	chr4:3732579..3734832-chr4:3738622..3741256,2	K562	blood:
27	chr4:3727503..3730344-chr4:3766713..3768330,2	MCF-7	breast:
28	chr4:3717339..3719373-chr4:3721279..3722918,2	MCF-7	breast:
29	chr4:3735978..3737529-chr4:3738180..3741033,2	K562	blood:
30	chr4:3702976..3705970-chr4:3735549..3737209,2	K562	blood:
31	chr4:3731474..3733507-chr4:3734661..3736771,2	K562	blood:
32	chr4:3720745..3724824-chr4:3727644..3730429,3	K562	blood:
33	chr4:3532832..3535276-chr4:3736927..3739502,2	MCF-7	breast:
34	chr4:3743213..3745544-chr4:3747612..3750605,2	K562	blood:
35	chr4:3741522..3743412-chr4:3768536..3771001,2	MCF-7	breast:
36	chr4:3734183..3737112-chr4:3747627..3749869,2	MCF-7	breast:
37	chr4:3734183..3737112-chr4:3747627..3749869,2	MCF-7	breast:
38	chr4:3749442..3749991-chr4:3785209..3785794,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250986	chromatin interactions
ENSG00000184160	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000251669	chromatin interactions

Extended variants
information (count: 1680 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1680 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11938629	chr4:3719380-3719381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181437100	chr4:3719393-3719394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539074709	chr4:3719404-3719405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375024843	chr4:3719405-3719406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146895603	chr4:3719406-3719407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62289452	chr4:3719450-3719451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557671089	chr4:3719456-3719457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139322805	chr4:3719457-3719458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536644028	chr4:3719490-3719491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562229157	chr4:3719552-3719553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553230066	chr4:3719566-3719567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529242407	chr4:3719624-3719625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111382538	chr4:3719640-3719641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2748778	chr4:3719663-3719664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs143348034	chr4:3719666-3719667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386670771	chr4:3719684-3719685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370900787	chr4:3719693-3719694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67477432	chr4:3719694-3719695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199790333	chr4:3719695-3719696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35448559	chr4:3719705-3719706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190041253	chr4:3719783-3719784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78088146	chr4:3719821-3719822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2748777	chr4:3719829-3719830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs115700172	chr4:3719847-3719848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370781501	chr4:3719882-3719883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570611917	chr4:3719883-3719884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528211395	chr4:3719889-3719890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56010454	chr4:3719901-3719902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113600043	chr4:3719902-3719903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571904005	chr4:3719914-3719915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146927997	chr4:3719915-3719916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551340768	chr4:3719917-3719918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2748776	chr4:3719918-3719919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs536503384	chr4:3719930-3719931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553355814	chr4:3719942-3719943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182290726	chr4:3719955-3719956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147993137	chr4:3720026-3720027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186623086	chr4:3720027-3720028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535232352	chr4:3720045-3720046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190876425	chr4:3720061-3720062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563103581	chr4:3720075-3720076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78840299	chr4:3720082-3720083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183903935	chr4:3720096-3720097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559315455	chr4:3720109-3720110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528059665	chr4:3720136-3720137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188948156	chr4:3720184-3720185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192937211	chr4:3720185-3720186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77700467	chr4:3720221-3720222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551528571	chr4:3720225-3720226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564967467	chr4:3720247-3720248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3717600-3722400	Weak transcription	Fetal Kidney	kidney
2	chr4:3717800-3720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3720000-3720400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3720400-3722800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3721400-3722400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:3721800-3722000	Enhancers	Spleen	Spleen
7	chr4:3722000-3722800	Weak transcription	Spleen	Spleen
8	chr4:3722200-3723200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:3722400-3722600	Enhancers	Fetal Kidney	kidney
10	chr4:3722400-3722800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:3722600-3723000	Enhancers	Brain Substantia Nigra	brain
12	chr4:3722600-3723200	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr4:3722600-3725000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:3722800-3723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:3722800-3723400	Enhancers	Spleen	Spleen
16	chr4:3722800-3723600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr4:3722800-3723800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:3723000-3723600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:3723000-3724000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:3723200-3723400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr4:3723200-3723800	Enhancers	HSMMtube	muscle
22	chr4:3723400-3723600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:3723400-3723800	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr4:3723600-3723800	Bivalent Enhancer	Brain Angular Gyrus	brain
25	chr4:3723600-3723800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr4:3723600-3723800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
27	chr4:3723600-3724400	Enhancers	Aorta	Aorta
28	chr4:3723800-3726600	Weak transcription	HSMMtube	muscle
29	chr4:3724000-3724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:3724400-3731600	Weak transcription	Aorta	Aorta
31	chr4:3724600-3724800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr4:3724600-3725000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:3724800-3725000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr4:3724800-3726600	Enhancers	Brain Anterior Caudate	brain
35	chr4:3724800-3732800	Weak transcription	Right Atrium	heart
36	chr4:3725000-3725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:3725000-3725800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr4:3725000-3726200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:3725000-3727200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:3725200-3725400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr4:3725200-3725400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:3725200-3725600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:3725200-3726200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr4:3725200-3726400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:3725200-3727600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr4:3725400-3725600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr4:3725400-3725600	Bivalent Enhancer	HSMM	muscle
48	chr4:3725400-3726400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr4:3725600-3726400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr4:3725600-3726400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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