Variant report

Variant	esv3405208
Chromosome Location	chr4:171937977-171939275
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	chr13:21346332..21349152-chr4:171938151..171940290,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150456	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79505262	chr4:171937986-171937987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111951094	chr4:171938030-171938031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567627401	chr4:171938031-171938032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189020502	chr4:171938035-171938036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181698305	chr4:171938040-171938041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575224714	chr4:171938053-171938054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78886241	chr4:171938126-171938127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185691360	chr4:171938143-171938144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577910594	chr4:171938168-171938169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77499315	chr4:171938216-171938217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559884005	chr4:171938221-171938222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6853309	chr4:171938245-171938246	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72706514	chr4:171938246-171938247	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78444688	chr4:171938263-171938264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182392040	chr4:171938285-171938286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140563550	chr4:171938286-171938287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531771248	chr4:171938316-171938317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368050871	chr4:171938324-171938325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6853521	chr4:171938325-171938326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145625515	chr4:171938337-171938338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150187915	chr4:171938349-171938350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10571700	chr4:171938352-171938353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6853535	chr4:171938353-171938354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62344472	chr4:171938357-171938358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs62344473	chr4:171938359-171938360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75942227	chr4:171938362-171938363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10571701	chr4:171938373-171938374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112039967	chr4:171938381-171938382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62344474	chr4:171938398-171938399	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535752499	chr4:171938407-171938408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79379391	chr4:171938413-171938414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369731012	chr4:171938433-171938434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199596743	chr4:171938443-171938444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113244246	chr4:171938463-171938464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372772894	chr4:171938475-171938476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377182543	chr4:171938482-171938483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568892291	chr4:171938483-171938484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10571702	chr4:171938495-171938496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567592870	chr4:171938511-171938512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533855636	chr4:171938524-171938525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111852944	chr4:171938548-171938549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62344475	chr4:171938566-171938567	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571085118	chr4:171938576-171938577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186102926	chr4:171938585-171938586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191865106	chr4:171938590-171938591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62344476	chr4:171938632-171938633	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141946927	chr4:171938638-171938639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114353960	chr4:171938654-171938655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145518024	chr4:171938667-171938668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375506280	chr4:171938668-171938669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171929000-171944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:171938800-171939000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:171938800-171939000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:171938800-171939200	Enhancers	Brain Substantia Nigra	brain
5	chr4:171939000-171939200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:171939000-171944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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