Variant report

Variant	nsv888958
Chromosome Location	chr7:109816518-109871406
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
2	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
3	chr7:109858826..109860608-chr7:110161184..110163464,2	MCF-7	breast:
4	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
5	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:
6	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
7	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
8	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
9	chr7:109729949..109731077-chr7:109844325..109845051,5	MCF-7	breast:
10	chr7:109484230..109484803-chr7:109844371..109845272,2	MCF-7	breast:
11	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:
12	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-3	chr7:109867882-109868182	NONHSAT122760

No data

Extended variants
information (count: 1015 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544425924	chr7:109818007-109818008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564237277	chr7:109818038-109818039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188681764	chr7:109818100-109818101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147944999	chr7:109818116-109818117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558454727	chr7:109818179-109818180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540547048	chr7:109818183-109818184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560171292	chr7:109818234-109818235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181465246	chr7:109818246-109818247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139897133	chr7:109818252-109818253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554382377	chr7:109818396-109818397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537595053	chr7:109818441-109818442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372070971	chr7:109818450-109818451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145332576	chr7:109818457-109818458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531271875	chr7:109818458-109818459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147702795	chr7:109818471-109818472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570740472	chr7:109818494-109818495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539631580	chr7:109818537-109818538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547314060	chr7:109818551-109818552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185479798	chr7:109818574-109818575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371900706	chr7:109818592-109818593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535841958	chr7:109818594-109818595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112460826	chr7:109818607-109818608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555937641	chr7:109818618-109818619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190355344	chr7:109818627-109818628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538316145	chr7:109818637-109818638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558264219	chr7:109818666-109818667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369263193	chr7:109818680-109818681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574041532	chr7:109818713-109818714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540046190	chr7:109818728-109818729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115577045	chr7:109818758-109818759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182233805	chr7:109818773-109818774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559468167	chr7:109818780-109818781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187198983	chr7:109818816-109818817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189747622	chr7:109818847-109818848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1722097	chr7:109818898-109818899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114368465	chr7:109818902-109818903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544737149	chr7:109818907-109818908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577651370	chr7:109818913-109818914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142409396	chr7:109818958-109818959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72603547	chr7:109818974-109818975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563216985	chr7:109819008-109819009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546828976	chr7:109819013-109819014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567160017	chr7:109819016-109819017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180921008	chr7:109819035-109819036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549422679	chr7:109819050-109819051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386716795	chr7:109819072-109819073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1525516	chr7:109819073-109819074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558325750	chr7:109819118-109819119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143575514	chr7:109819144-109819145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150981402	chr7:109819167-109819168	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109818000-109819600	Enhancers	Fetal Intestine Small	intestine
2	chr7:109818600-109819000	Enhancers	Fetal Intestine Large	intestine
3	chr7:109818600-109819400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:109818600-109819400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:109818800-109819600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:109819000-109819400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:109819000-109819600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:109819000-109819600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:109819000-109819600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:109819200-109819600	Enhancers	Fetal Intestine Large	intestine
11	chr7:109819600-109820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:109820400-109821200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:109820600-109820800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:109827600-109828600	Enhancers	Fetal Intestine Small	intestine
15	chr7:109832000-109832400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:109840800-109843400	Weak transcription	Dnd41	blood
17	chr7:109843400-109845200	Strong transcription	Dnd41	blood
18	chr7:109845200-109851200	Weak transcription	Dnd41	blood
19	chr7:109845800-109846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:109851200-109851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:109851200-109852400	Enhancers	Dnd41	blood
22	chr7:109852400-109854200	Weak transcription	Dnd41	blood
23	chr7:109852800-109853200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:109854600-109854800	ZNF genes & repeats	Dnd41	blood
25	chr7:109856200-109857000	Enhancers	Dnd41	blood
26	chr7:109863600-109864200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:109864600-109865000	Enhancers	Hela-S3	cervix
28	chr7:109864800-109865000	Enhancers	Pancreas	Pancrea
29	chr7:109864800-109865200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:109866000-109866200	Enhancers	Pancreas	Pancrea
31	chr7:109867400-109868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:109867600-109868000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:109867600-109868200	Enhancers	Dnd41	blood
34	chr7:109867800-109869200	Enhancers	Fetal Lung	lung
35	chr7:109869200-109869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:109869600-109870800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:109870800-109871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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