Variant report

Variant	nsv1033685
Chromosome Location	chr7:140197079-140224303
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140217150..140218325-chr7:140711569..140712510,4	K562	blood:
2	chr7:140177918..140179517-chr7:140199453..140201506,2	MCF-7	breast:
3	chr7:140217454..140218853-chr7:140346568..140347735,7	MCF-7	breast:
4	chr7:140203425..140205241-chr7:140714133..140716127,2	K562	blood:
5	chr7:140217530..140218341-chr7:140338101..140338802,2	MCF-7	breast:
6	chr7:140217421..140218389-chr7:140683292..140684296,3	K562	blood:
7	chr7:140220132..140222856-chr7:140372163..140374665,2	MCF-7	breast:
8	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
9	chr7:140217266..140218508-chr7:140352702..140354109,29	MCF-7	breast:
10	chr7:140217094..140218389-chr7:140352924..140354007,12	K562	blood:
11	chr7:140174812..140177161-chr7:140216236..140218009,2	K562	blood:
12	chr17:80163640..80164146-chr7:140222699..140223679,2	Hela-S3	cervix:
13	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
14	chr7:140216273..140216881-chr7:140352919..140353865,2	K562	blood:
15	chr7:140207803..140209523-chr7:140395462..140398526,3	K562	blood:
16	chr7:140175647..140176450-chr7:140217181..140217731,2	K562	blood:
17	chr7:140221603..140223913-chr7:140237034..140239122,2	K562	blood:
18	chr7:140216375..140219201-chr7:140345522..140347108,2	MCF-7	breast:
19	chr7:140216203..140218694-chr7:140353097..140355919,3	MCF-7	breast:
20	chr7:140177891..140180376-chr7:140211143..140213801,3	MCF-7	breast:
21	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
22	chr7:140177326..140179506-chr7:140211313..140213860,2	MCF-7	breast:
23	chr7:140177890..140180491-chr7:140207898..140209465,2	K562	blood:
24	chr7:140217465..140218703-chr7:140352465..140353922,9	MCF-7	breast:
25	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
26	chr7:140217592..140218317-chr7:140346880..140347484,2	MCF-7	breast:
27	chr7:140177655..140180336-chr7:140200057..140202817,2	MCF-7	breast:
28	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
29	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
30	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
31	chr7:140224000..140226834-chr7:140322770..140324470,2	MCF-7	breast:
32	chr7:140175661..140178823-chr7:140215593..140219447,3	K562	blood:
33	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090263	chromatin interactions
ENSG00000240889	chromatin interactions
ENSG00000133597	chromatin interactions
ENSG00000146966	chromatin interactions
ENSG00000090266	chromatin interactions
ENSG00000133606	chromatin interactions
ENSG00000240173	chromatin interactions

Extended variants
information (count: 1204 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183165209	chr7:140197088-140197089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574901054	chr7:140197142-140197143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368530173	chr7:140197195-140197196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573148932	chr7:140197208-140197209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144083633	chr7:140197216-140197217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540190069	chr7:140197223-140197224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188051739	chr7:140197233-140197234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545345202	chr7:140197248-140197249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371834231	chr7:140197276-140197277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557451161	chr7:140197283-140197284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113628000	chr7:140197342-140197343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550751921	chr7:140197367-140197368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2363815	chr7:140197401-140197402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530147489	chr7:140197437-140197438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558355243	chr7:140197473-140197474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548148512	chr7:140197507-140197508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193031835	chr7:140197508-140197509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182901897	chr7:140197560-140197561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367699073	chr7:140197562-140197563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2885917	chr7:140197563-140197564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552633405	chr7:140197682-140197683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535263876	chr7:140197706-140197707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571021771	chr7:140197763-140197764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376746704	chr7:140197783-140197784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538009674	chr7:140197788-140197789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556725931	chr7:140197831-140197832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368373639	chr7:140197834-140197835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561760896	chr7:140197977-140197978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187749257	chr7:140197978-140197979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536376876	chr7:140197987-140197988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143208026	chr7:140198000-140198001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192666214	chr7:140198007-140198008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73735363	chr7:140198115-140198116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558522908	chr7:140198135-140198136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7781853	chr7:140198159-140198160	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544040798	chr7:140198235-140198236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2885916	chr7:140198246-140198247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs151246605	chr7:140198261-140198262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140458769	chr7:140198268-140198269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183559293	chr7:140198301-140198302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114048143	chr7:140198366-140198367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114602075	chr7:140198401-140198402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571017211	chr7:140198425-140198426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551765742	chr7:140198466-140198467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532049374	chr7:140198493-140198494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150424557	chr7:140198497-140198498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138359144	chr7:140198515-140198516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189344827	chr7:140198520-140198521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192378178	chr7:140198532-140198533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116650077	chr7:140198543-140198544	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:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140185800-140198000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:140192200-140206800	Weak transcription	Right Atrium	heart
4	chr7:140193000-140206600	Weak transcription	Colonic Mucosa	Colon
5	chr7:140193600-140198000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:140196000-140201800	Weak transcription	K562	blood
7	chr7:140197000-140197400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:140197200-140197400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:140197800-140198200	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:140198000-140198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:140198000-140198200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:140198200-140199400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:140198200-140202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:140198400-140202000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:140198400-140206400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:140200000-140202000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:140201600-140202200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:140201800-140202000	Enhancers	Ovary	ovary
21	chr7:140201800-140202200	Enhancers	Fetal Intestine Large	intestine
22	chr7:140201800-140202200	Enhancers	Left Ventricle	heart
23	chr7:140201800-140202200	Enhancers	K562	blood
24	chr7:140201800-140202400	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:140201800-140202400	Enhancers	Pancreas	Pancrea
26	chr7:140201800-140202400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:140202000-140202200	Enhancers	HSMMtube	muscle
28	chr7:140202000-140202400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:140202000-140202400	Enhancers	Stomach Mucosa	stomach
30	chr7:140202200-140202400	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:140202200-140202400	Enhancers	Fetal Muscle Leg	muscle
32	chr7:140202200-140206000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:140202200-140206200	Weak transcription	Left Ventricle	heart
34	chr7:140202200-140206200	Weak transcription	K562	blood
35	chr7:140202200-140206400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:140202200-140206800	Weak transcription	Fetal Intestine Large	intestine
37	chr7:140202400-140205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:140202400-140206200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:140202400-140206400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:140202400-140206600	Weak transcription	Pancreas	Pancrea
41	chr7:140202400-140206800	Weak transcription	Stomach Mucosa	stomach
42	chr7:140204400-140205200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:140205000-140205200	Weak transcription	Ovary	ovary
44	chr7:140205000-140205400	Enhancers	Colon Smooth Muscle	Colon
45	chr7:140205200-140205400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:140205200-140205400	Enhancers	Ovary	ovary
47	chr7:140205200-140205600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:140205200-140208000	Enhancers	Fetal Muscle Leg	muscle
49	chr7:140205400-140205800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:140205400-140206200	Weak transcription	Ovary	ovary

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