Variant report

Variant	nsv1015724
Chromosome Location	chr7:13143412-13242350
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:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
2	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
3	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
4	chr7:13146450..13148956-chr7:13151839..13153573,2	MCF-7	breast:
5	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
6	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
7	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
8	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
9	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
10	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
11	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
12	chr7:12726389..12727416-chr7:13156220..13157643,5	MCF-7	breast:
13	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
14	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
15	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
16	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
17	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
18	chr7:13145074..13147493-chr7:13153724..13155360,2	MCF-7	breast:
19	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
20	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
21	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
22	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
23	chr7:12726065..12729797-chr7:13154020..13158072,4	MCF-7	breast:
24	chr7:13086829..13088462-chr7:13155188..13156937,2	K562	blood:
25	chr7:13146440..13148600-chr7:13150373..13152655,2	K562	blood:
26	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
27	chr7:13145074..13147493-chr7:13153724..13155360,2	MCF-7	breast:
28	chr7:12726542..12728897-chr7:13150585..13153553,2	MCF-7	breast:
29	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
30	chr7:12726572..12727399-chr7:13154701..13155615,3	MCF-7	breast:
31	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
32	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
33	chr7:13146440..13148600-chr7:13150373..13152655,2	K562	blood:
34	chr7:12980961..12983258-chr7:13154370..13156023,2	MCF-7	breast:
35	chr7:12726894..12727511-chr7:13156668..13157359,2	MCF-7	breast:
36	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
37	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
38	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
39	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
40	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
41	chr7:13146450..13148956-chr7:13151839..13153573,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 3344 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3344 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111504920	chr7:13143544-13143545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530460332	chr7:13143545-13143546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557498505	chr7:13143564-13143565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181134110	chr7:13143567-13143568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566504055	chr7:13143583-13143584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538624450	chr7:13143632-13143633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373151871	chr7:13143637-13143638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551854226	chr7:13143648-13143649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568956023	chr7:13143681-13143682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186155850	chr7:13143693-13143694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369150466	chr7:13143704-13143705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs386710483	chr7:13143717-13143718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117291234	chr7:13143729-13143730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190674254	chr7:13143740-13143741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs180813138	chr7:13143743-13143744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553632854	chr7:13143754-13143755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566484725	chr7:13143761-13143762	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73259873	chr7:13143767-13143768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545404973	chr7:13143771-13143772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558629713	chr7:13143792-13143793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575705392	chr7:13143799-13143800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544373758	chr7:13143803-13143804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538620631	chr7:13143813-13143814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77801403	chr7:13143823-13143824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561577722	chr7:13143861-13143862	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143028140	chr7:13143873-13143874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540963261	chr7:13143906-13143907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563118939	chr7:13143932-13143933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568188869	chr7:13143941-13143942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552159926	chr7:13143943-13143944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113215740	chr7:13143978-13143979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369768489	chr7:13143995-13143996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531479447	chr7:13143997-13143998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs80144350	chr7:13144022-13144023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535538981	chr7:13144028-13144029	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78852834	chr7:13144029-13144030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553519898	chr7:13144037-13144038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369898049	chr7:13144045-13144046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10246148	chr7:13144064-13144065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191000913	chr7:13144089-13144090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575547644	chr7:13144100-13144101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544722085	chr7:13144159-13144160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142745913	chr7:13144190-13144191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574953188	chr7:13144207-13144208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540851126	chr7:13144231-13144232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373342081	chr7:13144233-13144234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560621878	chr7:13144242-13144243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532880483	chr7:13144288-13144289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183194763	chr7:13144292-13144293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538106308	chr7:13144294-13144295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13134600-13143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:13139200-13146600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:13139200-13147200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:13142400-13147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:13143400-13143600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:13143400-13144200	Enhancers	Liver	Liver
7	chr7:13143400-13144400	Enhancers	Stomach Mucosa	stomach
8	chr7:13143400-13144600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:13143400-13144600	Enhancers	HepG2	liver
10	chr7:13143400-13145600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:13143600-13144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:13143600-13144400	Enhancers	K562	blood
13	chr7:13143600-13144400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:13144000-13144400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:13144200-13149000	Weak transcription	Liver	Liver
16	chr7:13144400-13145200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr7:13144600-13148800	Weak transcription	HepG2	liver
18	chr7:13146600-13147800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:13147200-13147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:13147600-13147800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:13147600-13147800	Enhancers	Esophagus	oesophagus
22	chr7:13147800-13148800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:13147800-13149200	Weak transcription	Esophagus	oesophagus
24	chr7:13148800-13149200	Enhancers	HepG2	liver
25	chr7:13148800-13149400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:13148800-13150000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:13149000-13149200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:13149000-13149400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:13149000-13149400	Enhancers	Liver	Liver
30	chr7:13149000-13150000	Enhancers	Gastric	stomach
31	chr7:13149200-13149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:13149200-13150000	ZNF genes & repeats	Esophagus	oesophagus
33	chr7:13149200-13150200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:13149200-13154600	Weak transcription	HepG2	liver
35	chr7:13149800-13150000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:13150000-13150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:13150000-13154400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:13153400-13154000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:13154000-13154400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:13154400-13155000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:13154400-13155200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:13154400-13155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:13154400-13155400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:13154400-13155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:13154400-13155400	Enhancers	Placenta	Placenta
46	chr7:13154400-13155400	Enhancers	HMEC	breast
47	chr7:13154400-13155400	Enhancers	K562	blood
48	chr7:13154400-13155400	Enhancers	NHEK	skin
49	chr7:13154400-13155800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:13154400-13155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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