Variant report

Variant	esv3381067
Chromosome Location	chr4:129656202-129658250
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	chr4:129473262..129475851-chr4:129658001..129660219,2	K562	blood:
2	chr4:129649402..129651030-chr4:129654105..129656613,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF17-2	chr4:129656348-129656603	l_2730_chr4:129656347-129659963_placenta

Variant related genes	Relation type
ENSG00000273077	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576289054	chr4:129656206-129656207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141269190	chr4:129656208-129656209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562120337	chr4:129656232-129656233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4450949	chr4:129656233-129656234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4282195	chr4:129656234-129656235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201947472	chr4:129656278-129656279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559460785	chr4:129656292-129656293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140434741	chr4:129656303-129656304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57309991	chr4:129656306-129656307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377725315	chr4:129656307-129656308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551353181	chr4:129656347-129656348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4450950	chr4:129656351-129656352	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530708799	chr4:129656367-129656368	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs187292130	chr4:129656376-129656377	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543975954	chr4:129656416-129656417	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs376169009	chr4:129656419-129656420	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs534783987	chr4:129656459-129656460	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs552915286	chr4:129656480-129656481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs6811857	chr4:129656623-129656624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140861044	chr4:129656664-129656665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557720927	chr4:129656686-129656687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576075287	chr4:129656726-129656727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114702301	chr4:129656737-129656738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116602556	chr4:129656738-129656739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192070133	chr4:129656776-129656777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75439785	chr4:129656817-129656818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10002938	chr4:129656887-129656888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559995795	chr4:129656911-129656912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185473800	chr4:129656922-129656923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113659441	chr4:129656963-129656964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188732490	chr4:129656973-129656974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563249282	chr4:129656998-129656999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530565113	chr4:129657021-129657022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543382413	chr4:129657033-129657034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548721754	chr4:129657134-129657135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193212582	chr4:129657139-129657140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555477183	chr4:129657163-129657164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371205585	chr4:129657235-129657236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563585694	chr4:129657435-129657436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546351221	chr4:129657439-129657440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74661944	chr4:129657501-129657502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113953939	chr4:129657505-129657506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185572161	chr4:129657521-129657522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557859498	chr4:129657547-129657548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116793848	chr4:129657602-129657603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150171035	chr4:129657625-129657626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555478566	chr4:129657640-129657641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574232953	chr4:129657692-129657693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535046405	chr4:129657759-129657760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115030644	chr4:129657794-129657795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129633000-129689600	Weak transcription	Right Atrium	heart
2	chr4:129647000-129658200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:129649400-129658000	Weak transcription	Fetal Heart	heart
4	chr4:129653800-129658200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:129654000-129658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:129654000-129658400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:129654200-129658000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:129654200-129658000	Weak transcription	K562	blood
9	chr4:129654200-129658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:129654600-129658400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:129654800-129658200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:129658000-129658600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:129658000-129659000	Enhancers	Fetal Heart	heart
14	chr4:129658200-129658600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:129658200-129658800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:129658200-129658800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:129658200-129658800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:129658200-129658800	Enhancers	K562	blood

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