Variant report

Variant	nsv517503
Chromosome Location	chr4:7632330-7639906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7639269..7641408-chr4:7650130..7651685,2	MCF-7	breast:
2	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:
3	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 445 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4689810	chr4:7632330-7632331	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531900617	chr4:7632353-7632354	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs559743217	chr4:7632381-7632382	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs149395665	chr4:7632383-7632384	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs548816604	chr4:7632384-7632385	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs189954198	chr4:7632387-7632388	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs368699141	chr4:7632390-7632391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs550512888	chr4:7632409-7632410	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs73074526	chr4:7632468-7632469	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531356294	chr4:7632492-7632493	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs549834956	chr4:7632499-7632500	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs571554806	chr4:7632673-7632674	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571942738	chr4:7632677-7632678	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144792738	chr4:7632686-7632687	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182899264	chr4:7632732-7632733	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187280578	chr4:7632737-7632738	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544491587	chr4:7632772-7632773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200723337	chr4:7632774-7632775	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139569642	chr4:7632775-7632776	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71175418	chr4:7632792-7632793	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11356756	chr4:7632793-7632794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538667419	chr4:7632864-7632865	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs536716005	chr4:7632870-7632871	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs78921993	chr4:7632894-7632895	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs4689145	chr4:7632902-7632903	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375711237	chr4:7632905-7632906	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs190956237	chr4:7632908-7632909	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs372102719	chr4:7632931-7632932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs4689146	chr4:7632939-7632940	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541366735	chr4:7632941-7632942	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs559859424	chr4:7632943-7632944	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs560036957	chr4:7632957-7632958	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs554605493	chr4:7632964-7632965	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs537263799	chr4:7632985-7632986	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs6824296	chr4:7633003-7633004	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560803516	chr4:7633023-7633024	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs148418035	chr4:7633025-7633026	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs386671270	chr4:7633083-7633084	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs73218633	chr4:7633085-7633086	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs57375452	chr4:7633087-7633088	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs11735230	chr4:7633127-7633128	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183807847	chr4:7633129-7633130	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs367822660	chr4:7633183-7633184	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs141682752	chr4:7633187-7633188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs565839310	chr4:7633192-7633193	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs115232728	chr4:7633208-7633209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548401846	chr4:7633223-7633224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545419329	chr4:7633261-7633262	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs377198531	chr4:7633295-7633296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187976307	chr4:7633306-7633307	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	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:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7627400-7632400	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7628200-7632400	Weak transcription	Fetal Brain Female	brain
3	chr4:7631200-7633800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
5	chr4:7631400-7632400	Enhancers	NH-A	brain
6	chr4:7631600-7632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:7631600-7632400	Enhancers	HSMMtube	muscle
8	chr4:7631600-7633200	Flanking Active TSS	HepG2	liver
9	chr4:7631600-7633400	Enhancers	Ovary	ovary
10	chr4:7631600-7634600	Enhancers	Brain Hippocampus Middle	brain
11	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
12	chr4:7631800-7632400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:7631800-7632400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:7631800-7632400	Enhancers	NHDF-Ad	bronchial
15	chr4:7631800-7632400	Enhancers	NHLF	lung
16	chr4:7631800-7632600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7631800-7632800	Enhancers	HSMM	muscle
18	chr4:7631800-7633400	Enhancers	HUVEC	blood vessel
19	chr4:7631800-7633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:7631800-7633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:7631800-7633800	Enhancers	HMEC	breast
22	chr4:7631800-7634000	Enhancers	Brain Angular Gyrus	brain
23	chr4:7631800-7634600	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:7631800-7634600	Enhancers	Brain Substantia Nigra	brain
25	chr4:7631800-7634600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:7631800-7634600	Enhancers	Left Ventricle	heart
27	chr4:7631800-7634800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:7632000-7632400	Enhancers	NHEK	skin
30	chr4:7632000-7632400	Enhancers	Osteobl	bone
31	chr4:7632000-7632800	Active TSS	Colon Smooth Muscle	Colon
32	chr4:7632000-7633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:7632000-7633200	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:7632000-7633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:7632000-7634000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr4:7632200-7632400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7632200-7632400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7632200-7632400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:7632200-7632400	Enhancers	A549	lung
42	chr4:7632200-7632600	Enhancers	Esophagus	oesophagus
43	chr4:7632200-7632600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr4:7632200-7633000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7632200-7633000	Enhancers	Brain Germinal Matrix	brain
46	chr4:7632200-7633000	Enhancers	Fetal Muscle Leg	muscle
47	chr4:7632200-7633000	Enhancers	Spleen	Spleen
48	chr4:7632200-7633200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr4:7632200-7634600	Enhancers	Right Atrium	heart
50	chr4:7632400-7632600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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