Variant report

Variant	nsv1031602
Chromosome Location	chr7:152889661-153100643
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:122)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:153099524..153101138-chr7:153168192..153169885,2	K562	blood:
2	chr7:153037739..153042014-chr7:153077281..153081479,4	K562	blood:
3	chr7:152988625..152991357-chr7:152991699..152994547,3	K562	blood:
4	chr17:58469104..58471678-chr7:153043936..153045780,2	MCF-7	breast:
5	chr7:153021290..153023389-chr7:153093979..153096811,2	K562	blood:
6	chr20:11799120..11799834-chr7:153060716..153061457,2	MCF-7	breast:
7	chr7:152993926..152995856-chr7:152996006..152997666,2	K562	blood:
8	chr7:152889841..152890846-chr7:152935444..152936722,7	MCF-7	breast:
9	chr7:152890009..152890763-chr7:153066469..153067438,2	MCF-7	breast:
10	chr7:153077622..153081135-chr7:153081678..153084143,4	K562	blood:
11	chr7:152993926..152995856-chr7:152996006..152997666,2	K562	blood:
12	chr7:153035622..153038068-chr7:153039274..153041067,2	K562	blood:
13	chr7:152989276..152991390-chr7:153098594..153101083,2	K562	blood:
14	chr7:153016352..153018288-chr7:153019848..153021405,2	K562	blood:
15	chr7:152941333..152942973-chr7:153102433..153104894,2	K562	blood:
16	chr7:153077274..153079986-chr7:153084409..153086483,3	K562	blood:
17	chr7:153100549..153102656-chr7:153210062..153212505,2	K562	blood:
18	chr7:153078444..153079476-chr7:153379433..153380748,5	MCF-7	breast:
19	chr7:153094372..153097321-chr7:153253930..153256627,2	K562	blood:
20	chr7:152948657..152952054-chr7:152952493..152957481,5	K562	blood:
21	chr7:153080633..153085077-chr7:153085115..153088222,5	K562	blood:
22	chr7:152889841..152890846-chr7:152935444..152936722,7	MCF-7	breast:
23	chr7:153037739..153042014-chr7:153077281..153081479,4	K562	blood:
24	chr7:152977134..152979639-chr7:152980585..152982158,2	K562	blood:
25	chr7:152975810..152978367-chr7:153090771..153092970,2	K562	blood:
26	chr7:153077274..153079986-chr7:153084409..153086483,3	K562	blood:
27	chr7:153044919..153047709-chr7:153054180..153055947,2	K562	blood:
28	chr7:152724247..152725784-chr7:153100492..153103483,2	K562	blood:
29	chr7:152883212..152885552-chr7:152890004..152891703,2	K562	blood:
30	chr7:153091082..153093692-chr7:153327387..153329268,2	K562	blood:
31	chr7:152892350..152895331-chr7:153094490..153096046,2	K562	blood:
32	chr7:152886558..152889278-chr7:152891243..152892822,2	K562	blood:
33	chr7:152945099..152947083-chr7:152947405..152949970,2	K562	blood:
34	chr7:153044433..153047709-chr7:153053514..153056497,3	K562	blood:
35	chr7:152995481..152999282-chr7:153026502..153028917,3	K562	blood:
36	chr7:152938733..152940838-chr7:153103273..153105378,2	K562	blood:
37	chr7:153099940..153103347-chr7:153340908..153343699,3	K562	blood:
38	chr7:152977134..152979639-chr7:152980585..152982158,2	K562	blood:
39	chr7:153080633..153085077-chr7:153085115..153088222,5	K562	blood:
40	chr7:153032299..153036856-chr7:153103737..153108075,4	K562	blood:
41	chr7:153098583..153101313-chr7:153228583..153231539,3	K562	blood:
42	chr7:152945099..152947083-chr7:152947405..152949970,2	K562	blood:
43	chr7:152989276..152991390-chr7:153098594..153101083,2	K562	blood:
44	chr7:153021290..153023389-chr7:153093979..153096811,2	K562	blood:
45	chr7:152889654..152891874-chr7:153094097..153096635,2	K562	blood:
46	chr7:153096512..153100597-chr7:153175371..153177855,3	K562	blood:
47	chr7:153094631..153097549-chr7:153392733..153395555,2	K562	blood:
48	chr7:153055542..153057416-chr7:153103974..153105838,2	K562	blood:
49	chr7:153078806..153081206-chr7:153081350..153083333,2	K562	blood:
50	chr7:153033175..153035096-chr7:153059959..153061462,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPP6-3	chr7:153092527-153092639	XLOC_006297
2	lnc-DPP6-3	chr7:153092498-153092703	XLOC_006297
3	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722.3
4	lnc-XRCC2-1	chr7:153097005-153097631	ENSG00000234722
5	lnc-DPP6-3	chr7:153086676-153086815	XLOC_006297
6	lnc-DPP6-3	chr7:153093149-153093207	XLOC_006297

No data

Variant related genes	Relation type
ENSG00000222281	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000141371	chromatin interactions
DHX57	miRNA target sites
LRRC1	miRNA target sites

Extended variants
information (count: 3058 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3058 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192508000	chr7:152889663-152889664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377427706	chr7:152889719-152889720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567198373	chr7:152889728-152889729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61046569	chr7:152889739-152889740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552971358	chr7:152889832-152889833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150663824	chr7:152889867-152889868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199931308	chr7:152889868-152889869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58432850	chr7:152889874-152889875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115317781	chr7:152889913-152889914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139895954	chr7:152889989-152889990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545629655	chr7:152890018-152890019	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563920245	chr7:152890107-152890108	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147462776	chr7:152890247-152890248	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544492330	chr7:152890286-152890287	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573138259	chr7:152890293-152890294	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540147440	chr7:152890331-152890332	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561977501	chr7:152890340-152890341	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149369046	chr7:152890359-152890360	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111280846	chr7:152890362-152890363	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577792559	chr7:152890367-152890368	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545339206	chr7:152890381-152890382	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553355351	chr7:152890428-152890429	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533442267	chr7:152890450-152890451	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552050188	chr7:152890454-152890455	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144733358	chr7:152890482-152890483	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184437866	chr7:152890516-152890517	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189734584	chr7:152890519-152890520	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370941624	chr7:152890656-152890657	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181186408	chr7:152890673-152890674	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185597163	chr7:152890679-152890680	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10253296	chr7:152890709-152890710	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565691334	chr7:152890754-152890755	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115836510	chr7:152890792-152890793	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572221122	chr7:152890816-152890817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373982235	chr7:152890821-152890822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148497033	chr7:152890834-152890835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112346734	chr7:152890851-152890852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368118435	chr7:152890895-152890896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539146462	chr7:152890905-152890906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560402552	chr7:152890929-152890930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189144047	chr7:152890934-152890935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6464316	chr7:152890937-152890938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181480181	chr7:152890962-152890963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187196537	chr7:152890963-152890964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200126611	chr7:152891025-152891026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573862664	chr7:152891029-152891030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375241874	chr7:152891068-152891069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374673193	chr7:152891088-152891089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13223987	chr7:152891105-152891106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192286108	chr7:152891109-152891110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152873600-152890400	Weak transcription	Right Atrium	heart
2	chr7:152889000-152890000	Weak transcription	Placenta	Placenta
3	chr7:152889800-152890200	Enhancers	Stomach Smooth Muscle	stomach
4	chr7:152890000-152890200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:152890000-152890400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:152890000-152890600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:152890000-152890600	Enhancers	Fetal Lung	lung
8	chr7:152890000-152890600	ZNF genes & repeats	Placenta	Placenta
9	chr7:152890200-152890400	Active TSS	Fetal Brain Female	brain
10	chr7:152890200-152890400	Enhancers	Lung	lung
11	chr7:152890200-152890600	Enhancers	Liver	Liver
12	chr7:152890200-152890600	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:152890200-152890800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:152890400-152890600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:152890400-152890600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:152890400-152890600	Flanking Active TSS	Fetal Brain Female	brain
17	chr7:152890400-152890600	Active TSS	Right Atrium	heart
18	chr7:152890400-152890600	Enhancers	A549	lung
19	chr7:152890400-152890800	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr7:152890600-152890800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:152890800-152892400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:152892400-152893200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:152901200-152901600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:152921000-152922400	Enhancers	Primary T cells from cord blood	blood
25	chr7:152931200-152931400	Enhancers	Placenta	Placenta
26	chr7:152931400-152932200	ZNF genes & repeats	Placenta	Placenta
27	chr7:152941400-152943400	Enhancers	Placenta	Placenta
28	chr7:152942800-152943400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:152943400-152943800	Weak transcription	Placenta	Placenta
30	chr7:152943800-152945200	Enhancers	Placenta	Placenta
31	chr7:152945200-152945600	Weak transcription	Placenta	Placenta
32	chr7:152945600-152945800	Enhancers	Placenta	Placenta
33	chr7:152945800-152948600	Weak transcription	Placenta	Placenta
34	chr7:152948600-152948800	Enhancers	Placenta	Placenta
35	chr7:152950200-152950400	Enhancers	Pancreas	Pancrea
36	chr7:152950400-152950600	Weak transcription	Pancreas	Pancrea
37	chr7:152952400-152954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:152953200-152953600	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:152955800-152956200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:152955800-152956200	Enhancers	Brain Anterior Caudate	brain
41	chr7:152955800-152956200	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:152955800-152956400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:152955800-152956400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:152955800-152956400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:152955800-152956400	Enhancers	Brain Substantia Nigra	brain
46	chr7:152955800-152956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:152956000-152956400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:152956000-152956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:152956000-152956400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:152956400-152961400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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