Variant report

Variant	nsv461213
Chromosome Location	chr4:7584560-7637297
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
2	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
3	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
4	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:
5	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
6	chr4:7587235..7591067-chr4:7593146..7595528,3	K562	blood:
7	chr4:7195456..7197409-chr4:7586904..7589269,2	MCF-7	breast:
8	chr4:7556337..7557293-chr4:7595770..7596324,2	MCF-7	breast:
9	chr4:7623664..7625710-chr4:7646151..7647846,2	K562	blood:
10	chr4:7556333..7557087-chr4:7618224..7618986,2	MCF-7	breast:
11	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:
12	chr4:7609503..7611116-chr4:7622610..7624136,2	MCF-7	breast:
13	chr4:7587235..7591067-chr4:7593146..7595528,3	K562	blood:
14	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:
15	chr4:7609503..7611116-chr4:7622610..7624136,2	MCF-7	breast:
16	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:
17	chr4:7572559..7575024-chr4:7593653..7596261,2	K562	blood:
18	chr4:7580716..7582985-chr4:7585685..7587672,2	MCF-7	breast:
19	chr4:7564031..7566362-chr4:7585647..7587570,2	MCF-7	breast:

No data

Extended variants
information (count: 2799 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2799 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4689786	chr4:7584560-7584561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535757496	chr4:7584583-7584584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547442655	chr4:7584600-7584601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578178662	chr4:7584601-7584602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576902036	chr4:7584605-7584606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557145004	chr4:7584621-7584622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575526388	chr4:7584647-7584648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187895490	chr4:7584674-7584675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78290517	chr4:7584679-7584680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573304637	chr4:7584686-7584687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540613669	chr4:7584687-7584688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541101130	chr4:7584689-7584690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573951249	chr4:7584702-7584703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559334035	chr4:7584736-7584737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35727467	chr4:7584748-7584749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566132855	chr4:7584751-7584752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544528633	chr4:7584756-7584757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562705160	chr4:7584763-7584764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10012347	chr4:7584767-7584768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs545298868	chr4:7584790-7584791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193191343	chr4:7584897-7584898	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs78202514	chr4:7584910-7584911	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs546533054	chr4:7584958-7584959	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs530680753	chr4:7584963-7584964	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs28433536	chr4:7584978-7584979	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529174174	chr4:7585011-7585012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183518120	chr4:7585012-7585013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569203513	chr4:7585088-7585089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539643321	chr4:7585097-7585098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61453690	chr4:7585101-7585102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571594346	chr4:7585149-7585150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542723449	chr4:7585176-7585177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532544669	chr4:7585181-7585182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557709126	chr4:7585231-7585232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561017652	chr4:7585298-7585299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566918766	chr4:7585304-7585305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187282080	chr4:7585312-7585313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555708234	chr4:7585347-7585348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573716357	chr4:7585353-7585354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192519336	chr4:7585359-7585360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13120812	chr4:7585367-7585368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577963760	chr4:7585384-7585385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28671595	chr4:7585403-7585404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560529401	chr4:7585412-7585413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528140605	chr4:7585438-7585439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549891128	chr4:7585453-7585454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561801036	chr4:7585456-7585457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184662860	chr4:7585460-7585461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188332043	chr4:7585527-7585528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192223665	chr4:7585535-7585536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7581800-7586200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7584800-7585000	Enhancers	Brain Anterior Caudate	brain
3	chr4:7584800-7585000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:7585600-7588000	Enhancers	Brain Germinal Matrix	brain
5	chr4:7585800-7587400	Enhancers	Fetal Brain Male	brain
6	chr4:7586000-7588000	Enhancers	Ovary	ovary
7	chr4:7586000-7588200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:7586200-7586600	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:7586400-7586600	Flanking Active TSS	Fetal Brain Female	brain
10	chr4:7586600-7586800	Enhancers	Fetal Brain Female	brain
11	chr4:7586600-7592000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:7586800-7591600	Weak transcription	Fetal Brain Female	brain
13	chr4:7587000-7587400	Enhancers	A549	lung
14	chr4:7587400-7591000	Weak transcription	Fetal Brain Male	brain
15	chr4:7588000-7588800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:7588000-7590200	Weak transcription	Ovary	ovary
17	chr4:7588200-7591600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7589000-7589200	Enhancers	Brain Germinal Matrix	brain
19	chr4:7589200-7590200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:7589200-7590400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7589200-7591000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:7589400-7589600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:7589400-7590600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:7589400-7591000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr4:7589600-7590400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:7590000-7590600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:7590200-7590400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:7590200-7591000	Enhancers	Ovary	ovary
29	chr4:7590200-7593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:7590400-7590600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:7590400-7591800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:7590400-7592200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:7590600-7591200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:7590600-7591600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:7590600-7592800	Enhancers	Brain Germinal Matrix	brain
36	chr4:7590800-7591000	Enhancers	Brain Substantia Nigra	brain
37	chr4:7590800-7592000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:7591000-7592400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:7591000-7593800	Enhancers	Fetal Brain Male	brain
40	chr4:7591600-7592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:7591600-7592200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:7591600-7592400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:7591600-7593400	Enhancers	Brain Anterior Caudate	brain
44	chr4:7591600-7594200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr4:7591600-7594800	Enhancers	Fetal Brain Female	brain
46	chr4:7591800-7592000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:7591800-7592400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:7591800-7592600	Enhancers	NH-A	brain
49	chr4:7592000-7592400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:7592000-7592800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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