Variant report

Variant	nsv10433
Chromosome Location	chr4:3869518-3873063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3532616..3535022-chr4:3869702..3872330,2	MCF-7	breast:
2	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
3	chr4:3868448..3872127-chr4:3872488..3876782,3	MCF-7	breast:
4	chr4:3847194..3848964-chr4:3867440..3869984,2	MCF-7	breast:
5	chr4:3867932..3870824-chr4:3880494..3883548,4	K562	blood:
6	chr4:3870335..3871918-chr4:3875584..3877907,2	K562	blood:
7	chr4:3860115..3861848-chr4:3869846..3871823,2	MCF-7	breast:
8	chr4:3868448..3872127-chr4:3872488..3876782,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163956	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374279378	chr4:3869526-3869527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561284536	chr4:3869528-3869529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191157945	chr4:3869538-3869539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs180804652	chr4:3869632-3869633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574105421	chr4:3869645-3869646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149912928	chr4:3869661-3869662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376167753	chr4:3869662-3869663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553370039	chr4:3869690-3869691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186437997	chr4:3869739-3869740	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78062582	chr4:3869761-3869762	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114022845	chr4:3869764-3869765	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532977636	chr4:3869776-3869777	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543638488	chr4:3869795-3869796	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28618402	chr4:3869797-3869798	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529032635	chr4:3869810-3869811	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548692923	chr4:3869857-3869858	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528455311	chr4:3869877-3869878	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28469880	chr4:3869878-3869879	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552117697	chr4:3869929-3869930	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552647822	chr4:3869950-3869951	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140974047	chr4:3869970-3869971	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571433655	chr4:3869974-3869975	Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532462493	chr4:3870035-3870036	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551200724	chr4:3870046-3870047	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369160863	chr4:3870053-3870054	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28668892	chr4:3870057-3870058	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536757792	chr4:3870062-3870063	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28427411	chr4:3870102-3870103	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572926416	chr4:3870124-3870125	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534573191	chr4:3870125-3870126	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28647712	chr4:3870186-3870187	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs28756939	chr4:3870201-3870202	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373699006	chr4:3870217-3870218	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577546230	chr4:3870260-3870261	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs3979	chr4:3870268-3870269	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370458090	chr4:3870331-3870332	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28522536	chr4:3870334-3870335	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138728092	chr4:3870335-3870336	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115495004	chr4:3870338-3870339	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559356849	chr4:3870371-3870372	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528076460	chr4:3870372-3870373	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551422676	chr4:3870373-3870374	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565572770	chr4:3870392-3870393	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531274800	chr4:3870397-3870398	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550852730	chr4:3870398-3870399	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148915397	chr4:3870425-3870426	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183084452	chr4:3870464-3870465	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116105713	chr4:3870469-3870470	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188710420	chr4:3870489-3870490	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112939781	chr4:3870492-3870493	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3864600-3873000	Weak transcription	Pancreas	Pancrea
2	chr4:3865000-3873000	Weak transcription	Right Atrium	heart
3	chr4:3865200-3872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:3865600-3870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:3868400-3870400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3869800-3870000	Bivalent Enhancer	Placenta	Placenta
7	chr4:3870200-3870400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3870400-3870600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr4:3870400-3871800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3871600-3873000	Enhancers	HSMMtube	muscle
11	chr4:3871800-3872000	Bivalent Enhancer	HepG2	liver
12	chr4:3871800-3872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:3871800-3872800	Enhancers	HSMM	muscle
14	chr4:3872000-3872200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:3872600-3872800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr4:3872600-3872800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
17	chr4:3872600-3872800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:3872600-3872800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:3872600-3873000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr4:3872600-3873200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:3872800-3873000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr4:3872800-3873000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:3872800-3873000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:3872800-3873000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:3872800-3873000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr4:3872800-3873200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr4:3872800-3873200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr4:3872800-3873200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:3872800-3873200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:3872800-3873400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr4:3872800-3873400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr4:3872800-3873400	Flanking Active TSS	HSMM	muscle
33	chr4:3872800-3873600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr4:3872800-3873800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:3872800-3873800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr4:3872800-3874000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr4:3872800-3874200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:3872800-3874200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:3872800-3874200	Bivalent Enhancer	Fetal Thymus	thymus
40	chr4:3872800-3874400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr4:3872800-3874400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:3872800-3875600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr4:3873000-3873200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:3873000-3873200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:3873000-3873200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr4:3873000-3873200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr4:3873000-3873200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:3873000-3873200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr4:3873000-3873200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr4:3873000-3873200	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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