Variant report

Variant	nsv871812
Chromosome Location	chr1:71481050-71489438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71475910..71477737-chr1:71480653..71482581,2	MCF-7	breast:
2	chr1:71473756..71476164-chr1:71480981..71482752,2	K562	blood:
3	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:
4	chr1:71488605..71491550-chr1:71545533..71547496,2	K562	blood:
5	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:
6	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:
7	chr1:71488156..71490050-chr1:71494544..71497230,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-13	chr1:71489270-71489329	NONHSAT003876

No data

Variant related genes	Relation type
ENSG00000229956	chromatin interactions
ENSG00000132485	chromatin interactions

Extended variants
information (count: 323 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2817857	chr1:71481050-71481051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74087171	chr1:71481122-71481123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191506020	chr1:71481167-71481168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369424125	chr1:71481204-71481205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564416515	chr1:71481260-71481261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139251029	chr1:71481284-71481285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546793390	chr1:71481329-71481330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540937945	chr1:71481432-71481433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374478395	chr1:71481464-71481465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564366603	chr1:71481470-71481471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528661451	chr1:71481474-71481475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530968052	chr1:71481507-71481508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535153948	chr1:71481522-71481523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548580906	chr1:71481546-71481547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568513444	chr1:71481561-71481562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537729957	chr1:71481604-71481605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78407723	chr1:71481651-71481652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113752918	chr1:71481652-71481653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7547433	chr1:71481736-71481737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562238123	chr1:71481740-71481741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553566210	chr1:71481743-71481744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182828653	chr1:71481804-71481805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529544929	chr1:71481805-71481806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551003258	chr1:71481852-71481853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569240073	chr1:71481878-71481879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561339327	chr1:71481923-71481924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564332667	chr1:71481965-71481966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188696597	chr1:71481986-71481987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372949052	chr1:71481994-71481995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12407771	chr1:71482032-71482033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564195512	chr1:71482063-71482064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533271170	chr1:71482071-71482072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546460596	chr1:71482079-71482080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34117528	chr1:71482091-71482092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376209313	chr1:71482212-71482213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560320671	chr1:71482251-71482252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533486825	chr1:71482254-71482255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371409990	chr1:71482258-71482259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551884569	chr1:71482266-71482267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374677267	chr1:71482269-71482270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548739540	chr1:71482270-71482271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140057935	chr1:71482311-71482312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191383404	chr1:71482341-71482342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550970635	chr1:71482342-71482343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143819175	chr1:71482343-71482344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146833005	chr1:71482369-71482370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532966606	chr1:71482400-71482401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566766581	chr1:71482409-71482410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149009364	chr1:71482413-71482414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143813589	chr1:71482435-71482436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71465800-71485000	Weak transcription	Pancreas	Pancrea
2	chr1:71478200-71482600	Weak transcription	Aorta	Aorta
3	chr1:71478200-71483200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:71479600-71481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71479600-71482000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71480400-71481800	Enhancers	K562	blood
7	chr1:71480600-71484400	Weak transcription	Fetal Heart	heart
8	chr1:71481600-71482800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71481800-71501000	Weak transcription	K562	blood
10	chr1:71482000-71483400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:71482600-71483800	Enhancers	Aorta	Aorta
12	chr1:71482800-71484000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71483000-71483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:71483000-71483800	Enhancers	Placenta	Placenta
15	chr1:71483200-71483600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:71483200-71483600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:71483200-71484000	Enhancers	Adipose Nuclei	Adipose
18	chr1:71483400-71483800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:71483800-71486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:71483800-71491400	Weak transcription	Aorta	Aorta
21	chr1:71484000-71484400	Weak transcription	Adipose Nuclei	Adipose
22	chr1:71484000-71485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71484400-71485000	Enhancers	Fetal Brain Male	brain
24	chr1:71484400-71485800	Enhancers	Adipose Nuclei	Adipose
25	chr1:71484400-71486000	Enhancers	Fetal Heart	heart
26	chr1:71484600-71485200	Enhancers	Fetal Brain Female	brain
27	chr1:71484800-71485400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:71485000-71485200	Enhancers	Pancreas	Pancrea
29	chr1:71485000-71487000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:71485800-71494000	Weak transcription	Adipose Nuclei	Adipose
31	chr1:71486000-71486400	Weak transcription	Fetal Heart	heart
32	chr1:71486400-71486600	Enhancers	Fetal Heart	heart
33	chr1:71486600-71488000	Weak transcription	Fetal Heart	heart
34	chr1:71486800-71487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:71487000-71491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:71487200-71495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:71488000-71488600	Enhancers	Fetal Heart	heart

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