Variant report

Variant	nsv820965
Chromosome Location	chr4:7836458-7837826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7832506..7835446-chr4:7836236..7839914,3	K562	blood:
2	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576703477	chr4:7836468-7836469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543744385	chr4:7836493-7836494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28575363	chr4:7836494-7836495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532520314	chr4:7836528-7836529	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551068026	chr4:7836538-7836539	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559853513	chr4:7836594-7836595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527381668	chr4:7836637-7836638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4990020	chr4:7836641-7836642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567134419	chr4:7836649-7836650	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551005695	chr4:7836663-7836664	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4328916	chr4:7836666-7836667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112272949	chr4:7836667-7836668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs180770496	chr4:7836679-7836680	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112560696	chr4:7836691-7836692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs80266699	chr4:7836720-7836721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376120646	chr4:7836732-7836733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571471156	chr4:7836733-7836734	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34099680	chr4:7836750-7836751	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs151109999	chr4:7836762-7836763	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377108142	chr4:7836776-7836777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538797851	chr4:7836792-7836793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533508949	chr4:7836794-7836795	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77383430	chr4:7836804-7836805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369831111	chr4:7836811-7836812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113210955	chr4:7836812-7836813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374385341	chr4:7836815-7836816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375958445	chr4:7836818-7836819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56218054	chr4:7836835-7836836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78230018	chr4:7836846-7836847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369133912	chr4:7836850-7836851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13108725	chr4:7836851-7836852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78809685	chr4:7836893-7836894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373124142	chr4:7836899-7836900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71601879	chr4:7836977-7836978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373041343	chr4:7836982-7836983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58584854	chr4:7837014-7837015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553999722	chr4:7837016-7837017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111877070	chr4:7837018-7837019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71601881	chr4:7837019-7837020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370832401	chr4:7837021-7837022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375489263	chr4:7837056-7837057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572621532	chr4:7837060-7837061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77623945	chr4:7837061-7837062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61156585	chr4:7837066-7837067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192248207	chr4:7837098-7837099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367888713	chr4:7837100-7837101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55744731	chr4:7837102-7837103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551346594	chr4:7837120-7837121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536724702	chr4:7837167-7837168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554984668	chr4:7837171-7837172	Weak transcription Strong 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
3	chr4:7825600-7852200	Weak transcription	Gastric	stomach
4	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
6	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
9	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7830600-7842800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:7830600-7842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:7830600-7843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:7830600-7844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7830600-7844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:7830600-7844600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
17	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
18	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:7830800-7837800	Weak transcription	Placenta	Placenta
25	chr4:7830800-7838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:7830800-7839000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:7830800-7842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:7830800-7842800	Weak transcription	Esophagus	oesophagus
29	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:7831000-7839000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:7831000-7839200	Weak transcription	Fetal Brain Female	brain
32	chr4:7831600-7842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:7831600-7845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:7832200-7839200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:7832200-7845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:7832200-7845800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:7832600-7838000	Weak transcription	Lung	lung
39	chr4:7832600-7845600	Weak transcription	Small Intestine	intestine
40	chr4:7832800-7836800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7833000-7845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:7833600-7844200	Weak transcription	Left Ventricle	heart
43	chr4:7833600-7845600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:7833800-7838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:7833800-7839000	Weak transcription	Right Atrium	heart
46	chr4:7833800-7844200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:7833800-7845600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
49	chr4:7834000-7838000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:7834000-7838000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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