Variant report

Variant	nsv1027348
Chromosome Location	chr7:109734695-110004326
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:34)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
2	chr7:109882190..109884405-chr7:109886123..109887899,2	K562	blood:
3	chr7:109729949..109731077-chr7:109844325..109845051,5	MCF-7	breast:
4	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
5	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:
6	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
7	chr7:109955062..109956846-chr7:109958867..109960788,2	MCF-7	breast:
8	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:
9	chr7:109921534..109922083-chr7:110022993..110023504,2	MCF-7	breast:
10	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
11	chr7:109882190..109884405-chr7:109886123..109887899,2	K562	blood:
12	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:
13	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:
14	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
15	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
16	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:
17	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
18	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:
19	chr7:109858826..109860608-chr7:110161184..110163464,2	MCF-7	breast:
20	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
21	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
22	chr7:109942801..109945378-chr7:109953861..109955984,2	MCF-7	breast:
23	chr7:109921191..109922083-chr7:110022949..110023504,3	MCF-7	breast:
24	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
25	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:
26	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
27	chr7:109484230..109484803-chr7:109844371..109845272,2	MCF-7	breast:
28	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
29	chr7:109951621..109953842-chr7:109955354..109958262,2	K562	blood:
30	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
31	chr7:109966345..109968006-chr7:109969376..109971540,2	K562	blood:
32	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:
33	chr2:166331840..166334109-chr7:109942311..109945123,2	MCF-7	breast:
34	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-3	chr7:109867882-109868182	NONHSAT122760
2	lnc-IMMP2L-6	chr7:109748142-109748387	NONHSAT122759
3	lnc-IMMP2L-6	chr7:109750710-109750732	NONHSAT122759

No data

Extended variants
information (count: 6211 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6211 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13246319	chr7:109734780-109734781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13246402	chr7:109734807-109734808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573714128	chr7:109734838-109734839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555230450	chr7:109734851-109734852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13246420	chr7:109734852-109734853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76686197	chr7:109734853-109734854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148124190	chr7:109734859-109734860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572859763	chr7:109734881-109734882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531486407	chr7:109734927-109734928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550977802	chr7:109735017-109735018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373071563	chr7:109735070-109735071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372494003	chr7:109735176-109735177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386716784	chr7:109735183-109735184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1723616	chr7:109735185-109735186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34662794	chr7:109735195-109735196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184602903	chr7:109735218-109735219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141890645	chr7:109735230-109735231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78644104	chr7:109735239-109735240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1525511	chr7:109735284-109735285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545711804	chr7:109735291-109735292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190582197	chr7:109735292-109735293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558206984	chr7:109735320-109735321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182231381	chr7:109735333-109735334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563998705	chr7:109735339-109735340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534310250	chr7:109735341-109735342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150226678	chr7:109735342-109735343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377101780	chr7:109735345-109735346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147411542	chr7:109735406-109735407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574056524	chr7:109735426-109735427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367545159	chr7:109735428-109735429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542490927	chr7:109735468-109735469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562306112	chr7:109735492-109735493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575951779	chr7:109735505-109735506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544853939	chr7:109735532-109735533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564547062	chr7:109735585-109735586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139645138	chr7:109735653-109735654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184469502	chr7:109735667-109735668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560850178	chr7:109735669-109735670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543170418	chr7:109735681-109735682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561343443	chr7:109735685-109735686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529782284	chr7:109735720-109735721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564526903	chr7:109735721-109735722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35128955	chr7:109735722-109735723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397968273	chr7:109735733-109735734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549617013	chr7:109735806-109735807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2222612	chr7:109735864-109735865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546785603	chr7:109735892-109735893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538542845	chr7:109735900-109735901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28630954	chr7:109735910-109735911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571900783	chr7:109735985-109735986	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109734400-109736400	Enhancers	Colon Smooth Muscle	Colon
2	chr7:109736800-109737800	Enhancers	Dnd41	blood
3	chr7:109737800-109738200	Weak transcription	Dnd41	blood
4	chr7:109738200-109739200	ZNF genes & repeats	Dnd41	blood
5	chr7:109739200-109755800	Weak transcription	Dnd41	blood
6	chr7:109744200-109745400	Enhancers	Brain Germinal Matrix	brain
7	chr7:109745200-109745800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:109745200-109746000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:109745400-109745600	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr7:109745400-109745800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:109745400-109746000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:109745400-109746200	Enhancers	HMEC	breast
13	chr7:109745400-109746600	Enhancers	NHEK	skin
14	chr7:109745600-109745800	Active TSS	Brain Germinal Matrix	brain
15	chr7:109746000-109747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:109746200-109747200	Weak transcription	HMEC	breast
17	chr7:109746600-109748400	Weak transcription	NHEK	skin
18	chr7:109747000-109749000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:109747200-109747400	Enhancers	HMEC	breast
20	chr7:109748400-109748800	Enhancers	NHEK	skin
21	chr7:109755800-109756400	Strong transcription	Dnd41	blood
22	chr7:109756400-109766600	Weak transcription	Dnd41	blood
23	chr7:109758400-109760200	Enhancers	Brain Germinal Matrix	brain
24	chr7:109759400-109759600	Enhancers	Pancreas	Pancrea
25	chr7:109759600-109768000	Weak transcription	Pancreas	Pancrea
26	chr7:109759800-109760200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:109767800-109768400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:109767800-109768600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:109768000-109768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:109768000-109768200	Enhancers	Pancreas	Pancrea
31	chr7:109768000-109768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:109770400-109770800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:109782800-109783400	Enhancers	Fetal Stomach	stomach
34	chr7:109788200-109789200	ZNF genes & repeats	Pancreas	Pancrea
35	chr7:109788200-109789600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:109788200-109789800	ZNF genes & repeats	Dnd41	blood
37	chr7:109789600-109797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:109796600-109798600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:109796800-109797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:109796800-109798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:109797600-109797800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:109797600-109798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:109797600-109798200	Enhancers	NHEK	skin
44	chr7:109797600-109798600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:109797600-109798600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:109797600-109799000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:109797800-109799000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:109798000-109798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:109798000-109798600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:109798400-109799000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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