Variant report

Variant	nsv1007153
Chromosome Location	chr1:71414296-71458961
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:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71150765..71151639-chr1:71429287..71429792,2	MCF-7	breast:
2	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
3	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
4	chr1:70975940..70976451-chr1:71428828..71429462,2	MCF-7	breast:
5	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
6	chr1:71411854..71414751-chr1:71416719..71419463,2	K562	blood:
7	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
8	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
9	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
10	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
11	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
12	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
13	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-3	chr1:71416584-71417176	ENSG00000235782.1
2	lnc-CTH-12	chr1:71430529-71431707	NONHSAT003873
3	lnc-CTH-12	chr1:71426588-71426941	NONHSAT003873
4	lnc-CTH-3	chr1:71416418-71416476	ENSG00000235782.1

No data

Variant related genes	Relation type
ENSG00000235782	chromatin interactions

Extended variants
information (count: 1780 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183884635	chr1:71414302-71414303	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549214837	chr1:71414303-71414304	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569066910	chr1:71414360-71414361	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115089333	chr1:71414368-71414369	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557714842	chr1:71414391-71414392	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576903314	chr1:71414398-71414399	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs35254773	chr1:71414399-71414400	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142744342	chr1:71414407-71414408	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553064094	chr1:71414409-71414410	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572871410	chr1:71414430-71414431	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146102613	chr1:71414450-71414451	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140086584	chr1:71414492-71414493	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78763984	chr1:71414578-71414579	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142300360	chr1:71414589-71414590	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377512591	chr1:71414615-71414616	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs151302198	chr1:71414618-71414619	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188727778	chr1:71414634-71414635	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533583668	chr1:71414709-71414710	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115617416	chr1:71414715-71414716	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376225898	chr1:71414743-71414744	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192824862	chr1:71414755-71414756	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548744795	chr1:71414767-71414768	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569129778	chr1:71414785-71414786	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs116670652	chr1:71414786-71414787	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552479302	chr1:71414821-71414822	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551536227	chr1:71414850-71414851	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs650194	chr1:71414863-71414864	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533757476	chr1:71414874-71414875	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372883540	chr1:71414886-71414887	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566630737	chr1:71415001-71415002	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535841791	chr1:71415038-71415039	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75112592	chr1:71415058-71415059	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199896002	chr1:71415089-71415090	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575881921	chr1:71415126-71415127	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs651265	chr1:71415135-71415136	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531236950	chr1:71415266-71415267	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558511798	chr1:71415281-71415282	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139353185	chr1:71415332-71415333	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150073120	chr1:71415345-71415346	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560280300	chr1:71415381-71415382	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370131862	chr1:71415383-71415384	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147739650	chr1:71415428-71415429	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113446720	chr1:71415434-71415435	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112392020	chr1:71415456-71415457	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531351040	chr1:71415482-71415483	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368614828	chr1:71415497-71415498	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185700335	chr1:71415559-71415560	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371447329	chr1:71415578-71415579	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7541936	chr1:71415597-71415598	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs547226868	chr1:71415664-71415665	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71413200-71415200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:71413600-71415000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:71413800-71414400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:71413800-71414400	Enhancers	Adipose Nuclei	Adipose
5	chr1:71413800-71415600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71414200-71415000	Active TSS	NHDF-Ad	bronchial
7	chr1:71414400-71414600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:71414400-71415000	Active TSS	Adipose Nuclei	Adipose
9	chr1:71414600-71414800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:71414800-71415000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:71415000-71415200	Flanking Active TSS	NHDF-Ad	bronchial
12	chr1:71415000-71415600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71415000-71415600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:71415000-71415800	Enhancers	Adipose Nuclei	Adipose
15	chr1:71415200-71415600	Enhancers	NHDF-Ad	bronchial
16	chr1:71415600-71416000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:71415600-71416200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:71415800-71422200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:71416000-71419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:71418400-71419200	Enhancers	Aorta	Aorta
21	chr1:71419600-71421000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:71421000-71421400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71421400-71422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:71422200-71422600	Enhancers	Adipose Nuclei	Adipose
25	chr1:71422600-71429600	Weak transcription	Adipose Nuclei	Adipose
26	chr1:71422800-71423600	Enhancers	Fetal Heart	heart
27	chr1:71422800-71425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:71423400-71423800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:71425800-71426000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:71426000-71436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:71429600-71430200	Enhancers	Adipose Nuclei	Adipose
32	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:71433600-71433800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:71436800-71437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:71438600-71440600	Enhancers	Fetal Brain Male	brain
36	chr1:71440200-71440400	Enhancers	Fetal Brain Female	brain
37	chr1:71440600-71441600	Weak transcription	Fetal Brain Male	brain
38	chr1:71440800-71441800	Weak transcription	Fetal Brain Female	brain
39	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
40	chr1:71441800-71442400	Enhancers	Fetal Brain Female	brain
41	chr1:71443000-71443200	Enhancers	Gastric	stomach
42	chr1:71443000-71443600	Enhancers	Pancreas	Pancrea
43	chr1:71443200-71456800	Weak transcription	Gastric	stomach
44	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
45	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:71444200-71444600	Enhancers	Fetal Heart	heart
48	chr1:71444200-71446200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:71444200-71446600	Enhancers	Adipose Nuclei	Adipose
50	chr1:71444200-71447000	Enhancers	Primary monocytes fromperipheralblood	blood

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