Variant report

Variant	nsv522069
Chromosome Location	chr7:153311016-153558949
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:62)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:153353780..153355410-chr7:153357076..153358792,2	K562	blood:
2	chr7:153346075..153348909-chr7:153353457..153355073,2	K562	blood:
3	chr7:153528031..153530118-chr7:153531328..153534242,3	K562	blood:
4	chr7:153524660..153527227-chr7:153530341..153532970,2	K562	blood:
5	chr7:153109538..153111597-chr7:153373687..153375958,2	K562	blood:
6	chr7:153525347..153527049-chr7:153542550..153545512,2	K562	blood:
7	chr7:153385864..153388204-chr7:153391971..153393735,2	K562	blood:
8	chr7:153524660..153527227-chr7:153530341..153532970,2	K562	blood:
9	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
10	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
11	chr7:153380114..153381790-chr7:153386652..153388674,2	K562	blood:
12	chr7:153099940..153103347-chr7:153340908..153343699,3	K562	blood:
13	chr7:153374613..153377425-chr7:153379537..153382036,2	K562	blood:
14	chr7:153535667..153538318-chr7:153542041..153544226,2	K562	blood:
15	chr7:153103866..153106849-chr7:153334968..153337420,2	K562	blood:
16	chr7:153100739..153103301-chr7:153343816..153346301,2	K562	blood:
17	chr7:153528295..153530118-chr7:153531328..153534242,2	K562	blood:
18	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
19	chr7:153522857..153524871-chr7:153525129..153529297,3	K562	blood:
20	chr7:153535667..153538318-chr7:153542041..153544226,2	K562	blood:
21	chr7:153091082..153093692-chr7:153327387..153329268,2	K562	blood:
22	chr7:153380114..153381790-chr7:153386652..153388674,2	K562	blood:
23	chr7:153366174..153368925-chr7:153372775..153374765,2	K562	blood:
24	chr7:153078567..153079314-chr7:153528933..153530177,7	MCF-7	breast:
25	chr7:153522857..153524871-chr7:153525129..153529297,3	K562	blood:
26	chr7:152890055..152890585-chr7:153532359..153532887,2	MCF-7	breast:
27	chr7:153102450..153104761-chr7:153532927..153535675,2	K562	blood:
28	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
29	chr7:153527409..153529713-chr7:153538152..153540890,2	K562	blood:
30	chr7:153527409..153529713-chr7:153538152..153540890,2	K562	blood:
31	chr7:152591605..152592124-chr7:153532194..153532836,2	MCF-7	breast:
32	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
33	chr7:153353780..153355410-chr7:153357076..153358792,2	K562	blood:
34	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
35	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
36	chr7:153385864..153388204-chr7:153391971..153393735,2	K562	blood:
37	chr7:153361300..153363555-chr7:153366208..153367723,2	K562	blood:
38	chr7:149904533..149906054-chr7:153459094..153460640,2	K562	blood:
39	chr7:153353677..153355280-chr7:153357292..153359740,2	K562	blood:
40	chr7:153439451..153439951-chr8:111669137..111669684,2	MCF-7	breast:
41	chr7:153374613..153377425-chr7:153379537..153382036,2	K562	blood:
42	chr7:153094563..153096914-chr7:153326913..153328518,2	K562	blood:
43	chr7:153353677..153355280-chr7:153357292..153359740,2	K562	blood:
44	chr7:153524674..153526933-chr7:153539368..153541510,2	K562	blood:
45	chr7:153104137..153106481-chr7:153366224..153368570,2	K562	blood:
46	chr7:153525347..153527049-chr7:153542550..153545512,2	K562	blood:
47	chr7:153528295..153530118-chr7:153531328..153534242,2	K562	blood:
48	chr7:153094631..153097549-chr7:153392733..153395555,2	K562	blood:
49	chr7:153361300..153363555-chr7:153366208..153367723,2	K562	blood:
50	chr7:153524674..153526933-chr7:153539368..153541510,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC2-4	chr7:153406738-153407404	XLOC_006659
2	lnc-XRCC2-4	chr7:153413334-153413531	XLOC_006659

No data

Variant related genes	Relation type
ENSG00000234722	chromatin interactions
CDKN1A	miRNA target sites

Extended variants
information (count: 2764 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2764 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117899755	chr7:153313605-153313606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546768640	chr7:153313633-153313634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568269993	chr7:153313662-153313663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529372956	chr7:153313671-153313672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551075351	chr7:153313756-153313757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575151086	chr7:153313766-153313767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555220842	chr7:153313829-153313830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150139209	chr7:153313841-153313842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539857460	chr7:153313921-153313922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544453535	chr7:153313938-153313939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73484310	chr7:153313948-153313949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186486403	chr7:153314090-153314091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190965211	chr7:153314091-153314092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563202029	chr7:153314126-153314127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112776808	chr7:153314145-153314146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182395237	chr7:153314156-153314157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138610905	chr7:153314160-153314161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116722925	chr7:153314179-153314180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557051497	chr7:153314214-153314215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575119678	chr7:153314223-153314224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200933170	chr7:153314228-153314229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199762119	chr7:153314229-153314230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71182824	chr7:153314236-153314237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545828871	chr7:153314357-153314358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563927753	chr7:153314382-153314383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10216303	chr7:153314437-153314438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370846686	chr7:153314458-153314459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561837525	chr7:153314470-153314471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529129724	chr7:153314485-153314486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7807270	chr7:153314494-153314495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569375543	chr7:153314518-153314519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11763554	chr7:153314542-153314543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73484317	chr7:153314590-153314591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566539255	chr7:153314657-153314658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527411183	chr7:153314671-153314672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534191127	chr7:153314714-153314715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555665945	chr7:153314776-153314777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567502194	chr7:153314789-153314790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538470498	chr7:153314819-153314820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573868323	chr7:153314854-153314855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556775780	chr7:153314868-153314869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575252842	chr7:153314897-153314898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187571483	chr7:153314899-153314900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11773747	chr7:153314919-153314920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73159401	chr7:153314962-153314963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540511339	chr7:153315006-153315007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531535570	chr7:153315009-153315010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561998728	chr7:153315029-153315030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114446280	chr7:153315053-153315054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79939214	chr7:153315054-153315055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153313600-153314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:153313800-153314200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:153313800-153314200	Enhancers	Gastric	stomach
4	chr7:153313800-153314400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:153313800-153315200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:153313800-153315200	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:153314000-153314200	Enhancers	Fetal Kidney	kidney
8	chr7:153314000-153314400	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:153314000-153314600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:153314200-153314800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr7:153314200-153315000	Enhancers	Colon Smooth Muscle	Colon
12	chr7:153314200-153324000	Weak transcription	Fetal Kidney	kidney
13	chr7:153315400-153315600	Enhancers	Gastric	stomach
14	chr7:153324000-153326400	Enhancers	Fetal Kidney	kidney
15	chr7:153326000-153326200	Enhancers	Spleen	Spleen
16	chr7:153328000-153328200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:153332600-153332800	Enhancers	HSMM	muscle
18	chr7:153336400-153336800	Enhancers	Spleen	Spleen
19	chr7:153337800-153339000	Enhancers	Fetal Stomach	stomach
20	chr7:153338800-153339000	Enhancers	Stomach Smooth Muscle	stomach
21	chr7:153354200-153355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:153354400-153355000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:153366400-153367000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:153367000-153370400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:153370400-153372400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:153370600-153372200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:153372000-153372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:153372200-153372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:153372200-153373000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:153372400-153372800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:153372400-153376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:153372800-153375000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:153373000-153373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:153373400-153373800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:153373800-153375000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:153380800-153381200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:153386600-153387000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:153387000-153387600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:153387600-153387800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:153389000-153389400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:153393000-153393600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr7:153393200-153393800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:153402000-153402400	Enhancers	Fetal Kidney	kidney
44	chr7:153402200-153402600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:153402400-153402600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:153444600-153444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:153444600-153447000	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:153444800-153445000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:153444800-153445000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr7:153444800-153445200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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