Variant report

Variant	nsv1032716
Chromosome Location	chr7:140198540-140214067
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:0)
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	chr7:140203425..140205241-chr7:140714133..140716127,2	K562	blood:
2	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
3	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
4	chr7:140177890..140180491-chr7:140207898..140209465,2	K562	blood:
5	chr7:140177918..140179517-chr7:140199453..140201506,2	MCF-7	breast:
6	chr7:140177891..140180376-chr7:140211143..140213801,3	MCF-7	breast:
7	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
8	chr7:140177655..140180336-chr7:140200057..140202817,2	MCF-7	breast:
9	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
10	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
11	chr7:140177326..140179506-chr7:140211313..140213860,2	MCF-7	breast:
12	chr7:140207803..140209523-chr7:140395462..140398526,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240889	chromatin interactions
ENSG00000090266	chromatin interactions
ENSG00000090263	chromatin interactions
ENSG00000133606	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116650077	chr7:140198543-140198544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572311499	chr7:140198581-140198582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60287668	chr7:140198582-140198583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397956100	chr7:140198592-140198593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542239019	chr7:140198604-140198605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184715608	chr7:140198638-140198639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189575589	chr7:140198645-140198646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10237292	chr7:140198655-140198656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181584724	chr7:140198695-140198696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146660991	chr7:140198703-140198704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184680342	chr7:140198711-140198712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555923794	chr7:140198728-140198729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574330434	chr7:140198738-140198739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541916625	chr7:140198741-140198742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189396436	chr7:140198757-140198758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139253563	chr7:140198796-140198797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534808547	chr7:140198804-140198805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369930433	chr7:140198810-140198811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182017570	chr7:140198828-140198829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574748008	chr7:140198829-140198830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149428285	chr7:140198870-140198871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373040107	chr7:140198882-140198883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554565375	chr7:140198884-140198885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79163463	chr7:140198897-140198898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531891322	chr7:140198979-140198980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187312215	chr7:140198983-140198984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190905136	chr7:140199043-140199044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368899050	chr7:140199062-140199063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76813338	chr7:140199095-140199096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376788112	chr7:140199096-140199097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398095428	chr7:140199098-140199099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568664588	chr7:140199123-140199124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138362478	chr7:140199130-140199131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529561857	chr7:140199142-140199143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10952704	chr7:140199166-140199167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557365152	chr7:140199190-140199191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180900407	chr7:140199225-140199226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533908859	chr7:140199226-140199227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551864409	chr7:140199227-140199228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570460549	chr7:140199253-140199254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537738710	chr7:140199255-140199256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557135422	chr7:140199294-140199295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556085061	chr7:140199325-140199326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71173204	chr7:140199343-140199344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539999981	chr7:140199368-140199369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574393849	chr7:140199380-140199381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186317257	chr7:140199386-140199387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190296069	chr7:140199387-140199388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144855098	chr7:140199405-140199406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182856996	chr7:140199406-140199407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140192200-140206800	Weak transcription	Right Atrium	heart
2	chr7:140193000-140206600	Weak transcription	Colonic Mucosa	Colon
3	chr7:140196000-140201800	Weak transcription	K562	blood
4	chr7:140198200-140199400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:140198200-140202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:140198400-140202000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:140198400-140206400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:140200000-140202000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:140201600-140202200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr7:140201800-140202000	Enhancers	Ovary	ovary
11	chr7:140201800-140202200	Enhancers	Fetal Intestine Large	intestine
12	chr7:140201800-140202200	Enhancers	Left Ventricle	heart
13	chr7:140201800-140202200	Enhancers	K562	blood
14	chr7:140201800-140202400	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:140201800-140202400	Enhancers	Pancreas	Pancrea
16	chr7:140201800-140202400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:140202000-140202200	Enhancers	HSMMtube	muscle
18	chr7:140202000-140202400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:140202000-140202400	Enhancers	Stomach Mucosa	stomach
20	chr7:140202200-140202400	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:140202200-140202400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:140202200-140206000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:140202200-140206200	Weak transcription	Left Ventricle	heart
24	chr7:140202200-140206200	Weak transcription	K562	blood
25	chr7:140202200-140206400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:140202200-140206800	Weak transcription	Fetal Intestine Large	intestine
27	chr7:140202400-140205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:140202400-140206200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:140202400-140206400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:140202400-140206600	Weak transcription	Pancreas	Pancrea
31	chr7:140202400-140206800	Weak transcription	Stomach Mucosa	stomach
32	chr7:140204400-140205200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:140205000-140205200	Weak transcription	Ovary	ovary
34	chr7:140205000-140205400	Enhancers	Colon Smooth Muscle	Colon
35	chr7:140205200-140205400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140205200-140205400	Enhancers	Ovary	ovary
37	chr7:140205200-140205600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:140205200-140208000	Enhancers	Fetal Muscle Leg	muscle
39	chr7:140205400-140205800	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:140205400-140206200	Weak transcription	Ovary	ovary
41	chr7:140205400-140206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:140205600-140206000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:140205600-140206200	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:140205800-140206400	Enhancers	Colon Smooth Muscle	Colon
45	chr7:140205800-140206800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
47	chr7:140206000-140206200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:140206000-140206400	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:140206000-140207200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:140206000-140207400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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