Variant report

Variant	nsv594327
Chromosome Location	chr4:62187646-62274626
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	chr4:19583145..19583681-chr4:62195548..62196296,2	MCF-7	breast:
2	chr4:62217548..62220131-chr5:121450075..121452091,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-12	chr4:62248842-62248907	NONHSAT096609
2	lnc-POLR2B-12	chr4:62251129-62251487	NONHSAT096609

Extended variants
information (count: 3077 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3077 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13150558	chr4:62187646-62187647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78852967	chr4:62187647-62187648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558425158	chr4:62187660-62187661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140425442	chr4:62187746-62187747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183838791	chr4:62187777-62187778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552597729	chr4:62187827-62187828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566442002	chr4:62187849-62187850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572475596	chr4:62187852-62187853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531620804	chr4:62187853-62187854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549821826	chr4:62187878-62187879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542736516	chr4:62187903-62187904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561566014	chr4:62187970-62187971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189719359	chr4:62188028-62188029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544176124	chr4:62188048-62188049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374062806	chr4:62188066-62188067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147407934	chr4:62188076-62188077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2135242	chr4:62188118-62188119	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547386205	chr4:62188123-62188124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs559060758	chr4:62188185-62188186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529831300	chr4:62188255-62188256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139169772	chr4:62188272-62188273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569878017	chr4:62188290-62188291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539191949	chr4:62188306-62188307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181356979	chr4:62188310-62188311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56707835	chr4:62188335-62188336	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552064011	chr4:62188338-62188339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570380343	chr4:62188384-62188385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538670579	chr4:62188424-62188425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553777876	chr4:62188463-62188464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572337587	chr4:62188469-62188470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185204578	chr4:62188498-62188499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554765444	chr4:62188499-62188500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372660763	chr4:62188530-62188531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576583474	chr4:62188554-62188555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574104357	chr4:62188632-62188633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557310049	chr4:62188656-62188657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77613187	chr4:62188728-62188729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2135241	chr4:62188737-62188738	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111693292	chr4:62188738-62188739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190127133	chr4:62188747-62188748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559339629	chr4:62188754-62188755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529652728	chr4:62188794-62188795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145124518	chr4:62188812-62188813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563196721	chr4:62188839-62188840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13111886	chr4:62188843-62188844	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181850557	chr4:62188858-62188859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373050301	chr4:62188898-62188899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551925140	chr4:62188934-62188935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74998823	chr4:62188936-62188937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542067376	chr4:62188937-62188938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62175600-62188400	Weak transcription	Aorta	Aorta
2	chr4:62184400-62188400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:62185400-62188200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:62186400-62188400	Weak transcription	Fetal Stomach	stomach
5	chr4:62186600-62188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:62186600-62188000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:62186600-62202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:62186800-62189800	Weak transcription	Brain Angular Gyrus	brain
9	chr4:62188000-62188800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr4:62188200-62190000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:62188400-62188600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr4:62188400-62189000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:62188400-62189000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:62188400-62189000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:62188400-62189000	ZNF genes & repeats	Aorta	Aorta
16	chr4:62188400-62189000	ZNF genes & repeats	Fetal Stomach	stomach
17	chr4:62189000-62189400	Weak transcription	Aorta	Aorta
18	chr4:62189600-62190200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:62190200-62200600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:62193800-62194000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:62193800-62194800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:62193800-62194800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:62194000-62202000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:62194800-62200600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:62196000-62196200	ZNF genes & repeats	Fetal Lung	lung
26	chr4:62196200-62198400	Weak transcription	Fetal Lung	lung
27	chr4:62198400-62198600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:62198400-62198600	Enhancers	Fetal Heart	heart
29	chr4:62198400-62198800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:62198400-62198800	Enhancers	Fetal Lung	lung
31	chr4:62198800-62200200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:62198800-62207400	Weak transcription	Fetal Lung	lung
33	chr4:62199600-62200600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:62199800-62201800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:62200200-62203400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:62200600-62202000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:62200600-62202000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:62200600-62202200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:62200600-62203400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:62200800-62201400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:62201000-62201800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:62201000-62203600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:62201000-62203600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:62201000-62204000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:62201200-62202000	Enhancers	Brain Anterior Caudate	brain
46	chr4:62201200-62202000	Enhancers	Brain Hippocampus Middle	brain
47	chr4:62201200-62202000	Enhancers	Brain Substantia Nigra	brain
48	chr4:62201200-62202200	Enhancers	Brain Angular Gyrus	brain
49	chr4:62201200-62203200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:62201400-62201800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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