Variant report

Variant	nsv1022156
Chromosome Location	chr7:97372423-97402215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97372375..97375018-chr7:97378274..97380975,3	K562	blood:
2	chr7:97399083..97401485-chr7:97404504..97407058,2	K562	blood:
3	chr7:97367998..97369892-chr7:97372461..97374150,2	MCF-7	breast:
4	chr7:97367330..97369358-chr7:97372378..97374711,2	K562	blood:
5	chr7:97383052..97385272-chr7:97499637..97501845,2	K562	blood:
6	chr7:97372375..97375018-chr7:97378274..97380975,3	K562	blood:

Variant related genes	Relation type
ENSG00000070669	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35337801	chr7:97376636-97376637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184565730	chr7:97376656-97376657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570333264	chr7:97376659-97376660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577047758	chr7:97376705-97376706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79016113	chr7:97376758-97376759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10256060	chr7:97376791-97376792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1229435	chr7:97376806-97376807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189490993	chr7:97376814-97376815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374095812	chr7:97376879-97376880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116181064	chr7:97376917-97376918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140637783	chr7:97376956-97376957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545926495	chr7:97377004-97377005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369898781	chr7:97377069-97377070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111566663	chr7:97377074-97377075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532707596	chr7:97377080-97377081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552425139	chr7:97377089-97377090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562745726	chr7:97377106-97377107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73392225	chr7:97377164-97377165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548315578	chr7:97377174-97377175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568441029	chr7:97377195-97377196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546140397	chr7:97377273-97377274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534233986	chr7:97377343-97377344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547490426	chr7:97377399-97377400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570799848	chr7:97377454-97377455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6972920	chr7:97377463-97377464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556458986	chr7:97377506-97377507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59292627	chr7:97377517-97377518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6973061	chr7:97377518-97377519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577084549	chr7:97377560-97377561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67923626	chr7:97377561-97377562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71561646	chr7:97377564-97377565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192187714	chr7:97377595-97377596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572028218	chr7:97377609-97377610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541084452	chr7:97377648-97377649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563948057	chr7:97377695-97377696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6955894	chr7:97377720-97377721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74735782	chr7:97377759-97377760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113439361	chr7:97377807-97377808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531815775	chr7:97377809-97377810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548359654	chr7:97377823-97377824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34727943	chr7:97377837-97377838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145683685	chr7:97377878-97377879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61709369	chr7:97377880-97377881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs386488138	chr7:97377889-97377890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564218687	chr7:97377898-97377899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185772829	chr7:97377901-97377902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550148509	chr7:97377904-97377905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189238532	chr7:97377907-97377908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115833636	chr7:97377942-97377943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555286548	chr7:97377982-97377983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97376600-97377800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:97376600-97378000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:97400000-97401200	Enhancers	K562	blood
4	chr7:97400000-97402800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:97400000-97403800	Enhancers	Fetal Intestine Large	intestine
6	chr7:97400200-97400800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr7:97400400-97402200	Enhancers	Stomach Mucosa	stomach
8	chr7:97400600-97403800	Enhancers	Fetal Intestine Small	intestine
9	chr7:97400800-97402400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:97401400-97403000	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:97402200-97402400	Flanking Active TSS	Stomach Mucosa	stomach

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