Variant report

Variant	nsv10432
Chromosome Location	chr4:3825407-3831942
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3829429..3832344-chr4:3838396..3840116,3	K562	blood:
2	chr4:3824171..3826051-chr4:3826222..3829148,2	K562	blood:
3	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
4	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
5	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
6	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
7	chr4:3821936..3824037-chr4:3824303..3826053,2	K562	blood:
8	chr4:3824171..3826051-chr4:3826222..3829148,2	K562	blood:
9	chr4:3829853..3832669-chr4:3854870..3857494,2	MCF-7	breast:
10	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
11	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
12	chr4:3688266..3689130-chr4:3828986..3829489,2	MCF-7	breast:
13	chr4:3830844..3833198-chr4:3838056..3840116,2	K562	blood:
14	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
15	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
16	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
17	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
18	chr4:3831503..3833114-chr4:3834560..3837370,2	K562	blood:
19	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
20	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
21	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
22	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:

No data

Extended variants
information (count: 502 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574941347	chr4:3825431-3825432	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28743003	chr4:3825440-3825441	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554303503	chr4:3825497-3825498	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568493057	chr4:3825523-3825524	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577440211	chr4:3825534-3825535	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546186630	chr4:3825543-3825544	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562763931	chr4:3825555-3825556	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71595710	chr4:3825580-3825581	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544191773	chr4:3825581-3825582	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561278062	chr4:3825595-3825596	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554866470	chr4:3825614-3825615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529836847	chr4:3825622-3825623	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs576264850	chr4:3825669-3825670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs188434731	chr4:3825679-3825680	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs558514321	chr4:3825680-3825681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559798615	chr4:3825692-3825693	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs375712862	chr4:3825696-3825697	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146386117	chr4:3825722-3825723	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs553313604	chr4:3825725-3825726	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs369520284	chr4:3825730-3825731	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs139768572	chr4:3825731-3825732	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs28615633	chr4:3825733-3825734	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540756742	chr4:3825742-3825743	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375897055	chr4:3825745-3825746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs559045988	chr4:3825785-3825786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs371296186	chr4:3825817-3825818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs78580531	chr4:3825837-3825838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs111562197	chr4:3825842-3825843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs28406844	chr4:3825848-3825849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369151339	chr4:3825864-3825865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369788503	chr4:3825865-3825866	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs373226643	chr4:3825870-3825871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs554424260	chr4:3825903-3825904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs577386357	chr4:3825907-3825908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs539945223	chr4:3825932-3825933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs556482702	chr4:3825933-3825934	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs28734075	chr4:3825942-3825943	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542257076	chr4:3825952-3825953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs561004685	chr4:3825994-3825995	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs192731884	chr4:3826017-3826018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184705665	chr4:3826019-3826020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116836071	chr4:3826029-3826030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531155223	chr4:3826038-3826039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532030913	chr4:3826043-3826044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545589982	chr4:3826082-3826083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562641003	chr4:3826120-3826121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73082729	chr4:3826173-3826174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143963873	chr4:3826174-3826175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188337283	chr4:3826199-3826200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116517035	chr4:3826204-3826205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Ependymoma	20639864	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3821400-3828400	Enhancers	HepG2	liver
2	chr4:3821600-3829400	Weak transcription	A549	lung
3	chr4:3823800-3832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:3824000-3828600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:3824200-3828600	Weak transcription	Spleen	Spleen
6	chr4:3824400-3828600	Weak transcription	Pancreas	Pancrea
7	chr4:3824400-3831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3825200-3825800	Enhancers	Liver	Liver
9	chr4:3825400-3825600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:3825400-3825800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:3825400-3827000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3825800-3826000	Bivalent Enhancer	Placenta	Placenta
13	chr4:3825800-3827200	Weak transcription	Liver	Liver
14	chr4:3825800-3828600	Weak transcription	Ovary	ovary
15	chr4:3827000-3828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3827200-3831400	Enhancers	Liver	Liver
17	chr4:3828000-3828800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr4:3828200-3828400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:3828200-3830200	Enhancers	Right Ventricle	heart
20	chr4:3828400-3829400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr4:3828400-3830200	Flanking Active TSS	HepG2	liver
22	chr4:3828400-3833400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:3828600-3828800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:3828600-3829000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr4:3828600-3829000	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:3828600-3829400	Bivalent Enhancer	Placenta	Placenta
27	chr4:3828600-3829600	Enhancers	Brain Hippocampus Middle	brain
28	chr4:3828600-3829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:3828600-3830200	Enhancers	Lung	lung
30	chr4:3828600-3830200	Enhancers	Ovary	ovary
31	chr4:3828600-3830400	Enhancers	Spleen	Spleen
32	chr4:3828600-3832200	Enhancers	Fetal Brain Male	brain
33	chr4:3828600-3833400	Enhancers	Brain Germinal Matrix	brain
34	chr4:3828600-3833800	Enhancers	Pancreas	Pancrea
35	chr4:3828800-3829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:3828800-3829800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr4:3828800-3830600	Enhancers	Fetal Muscle Leg	muscle
38	chr4:3829000-3829400	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:3829000-3829600	Enhancers	Brain Anterior Caudate	brain
40	chr4:3829000-3829600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:3829000-3829800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr4:3829000-3830000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:3829000-3830000	Enhancers	Adipose Nuclei	Adipose
44	chr4:3829000-3830000	Enhancers	Left Ventricle	heart
45	chr4:3829000-3830000	Enhancers	Right Atrium	heart
46	chr4:3829000-3830000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr4:3829000-3830200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:3829000-3830400	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:3829200-3829400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:3829200-3829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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