Variant report

Variant	esv3365746
Chromosome Location	chr1:152935328-152937626
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	chr1:152935531..152937075-chr1:153003334..153005043,2	MCF-7	breast:
2	chr1:152930875..152932444-chr1:152933808..152936287,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRR2D-2	chr1:152937607-152937738	l_135_chr1:152937606-152941792_thyroid

Variant related genes	Relation type
ENSG00000169469	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138465210	chr1:152935368-152935369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571833651	chr1:152935401-152935402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190391267	chr1:152935427-152935428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149258411	chr1:152935440-152935441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574116615	chr1:152935460-152935461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181393743	chr1:152935481-152935482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114670688	chr1:152935503-152935504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186052940	chr1:152935570-152935571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188466630	chr1:152935587-152935588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144453034	chr1:152935613-152935614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148394258	chr1:152935649-152935650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527823558	chr1:152935680-152935681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547929735	chr1:152935713-152935714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560244214	chr1:152935732-152935733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75330564	chr1:152935818-152935819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74967534	chr1:152935825-152935826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35452155	chr1:152935838-152935839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550037781	chr1:152935886-152935887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181307992	chr1:152935904-152935905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540899409	chr1:152935918-152935919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569896559	chr1:152935923-152935924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11802560	chr1:152935964-152935965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550077028	chr1:152936025-152936026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558362901	chr1:152936055-152936056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571924881	chr1:152936057-152936058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372828677	chr1:152936087-152936088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368175526	chr1:152936092-152936093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150998827	chr1:152936093-152936094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200785638	chr1:152936096-152936097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554247320	chr1:152936103-152936104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574333507	chr1:152936126-152936127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115830417	chr1:152936133-152936134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563194035	chr1:152936135-152936136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11581802	chr1:152936164-152936165	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545569151	chr1:152936178-152936179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565447309	chr1:152936236-152936237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527912345	chr1:152936274-152936275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376329124	chr1:152936287-152936288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561405110	chr1:152936312-152936313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530099274	chr1:152936335-152936336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549933887	chr1:152936343-152936344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569915633	chr1:152936377-152936378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185535903	chr1:152936421-152936422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200732680	chr1:152936422-152936423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552074091	chr1:152936425-152936426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115445592	chr1:152936435-152936436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147320687	chr1:152936441-152936442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116116267	chr1:152936450-152936451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568109829	chr1:152936453-152936454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201739331	chr1:152936456-152936457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152927800-152937000	Weak transcription	NHEK	skin
2	chr1:152933000-152939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:152933000-152939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152933200-152939200	Weak transcription	HMEC	breast
5	chr1:152933600-152940400	Weak transcription	Esophagus	oesophagus
6	chr1:152937000-152937400	Enhancers	NHEK	skin
7	chr1:152937400-152939400	Weak transcription	NHEK	skin
8	chr1:152937600-152938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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