Variant report

Variant	nsv594138
Chromosome Location	chr4:49053522-49094607
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	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:
2	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:

Extended variants
information (count: 1196 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1196 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2768957	chr4:49053522-49053523	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189767262	chr4:49053573-49053574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574060096	chr4:49053702-49053703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534655124	chr4:49053704-49053705	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552974121	chr4:49053710-49053711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548178728	chr4:49053738-49053739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537371739	chr4:49053742-49053743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372335785	chr4:49053799-49053800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544934752	chr4:49053813-49053814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563118012	chr4:49053836-49053837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181420517	chr4:49053857-49053858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566339079	chr4:49053890-49053891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78851839	chr4:49054008-49054009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542347538	chr4:49054067-49054068	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560996440	chr4:49054075-49054076	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528176086	chr4:49054085-49054086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150493911	chr4:49054086-49054087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565915035	chr4:49054216-49054217	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534838804	chr4:49054253-49054254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564889425	chr4:49054260-49054261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533646040	chr4:49054262-49054263	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533692523	chr4:49054331-49054332	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570141717	chr4:49054385-49054386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537612370	chr4:49054398-49054399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549316862	chr4:49054413-49054414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567722078	chr4:49054455-49054456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534809638	chr4:49054492-49054493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552935368	chr4:49054509-49054510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377107073	chr4:49054517-49054518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186075985	chr4:49054534-49054535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138326882	chr4:49054552-49054553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149615745	chr4:49054583-49054584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568178710	chr4:49054593-49054594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536854396	chr4:49054607-49054608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144318117	chr4:49054631-49054632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2605232	chr4:49054680-49054681	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs554488106	chr4:49054716-49054717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572940014	chr4:49054728-49054729	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555204336	chr4:49054734-49054735	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564871223	chr4:49054746-49054747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532185948	chr4:49054764-49054765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189075896	chr4:49054783-49054784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375730602	chr4:49054904-49054905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563961108	chr4:49054919-49054920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531133499	chr4:49054968-49054969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181783416	chr4:49055131-49055132	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567800142	chr4:49055174-49055175	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537526460	chr4:49055178-49055179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528540634	chr4:49055282-49055283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556150663	chr4:49055315-49055316	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49036800-49058800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:49046800-49054000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:49051000-49055400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:49053400-49059000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:49055400-49058800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:49058800-49059600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:49058800-49059600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr4:49059000-49060800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
9	chr4:49059600-49064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:49059600-49064200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:49060800-49064800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:49061600-49062200	ZNF genes & repeats	Esophagus	oesophagus
13	chr4:49061600-49062400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:49062000-49064800	Weak transcription	Colonic Mucosa	Colon
15	chr4:49064200-49065000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:49064200-49065000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr4:49065000-49065200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:49065000-49066600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:49065200-49065400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:49065400-49065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:49068600-49068800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:49085000-49085400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:49085400-49093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:49087400-49093200	Weak transcription	Left Ventricle	heart
25	chr4:49089800-49090000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:49090000-49093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr4:49093200-49093600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
29	chr4:49093200-49093600	ZNF genes & repeats	Right Atrium	heart
30	chr4:49093200-49093600	ZNF genes & repeats	Osteobl	bone
31	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
32	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
33	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
34	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
35	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
36	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
38	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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