Variant report

Variant	nsv966880
Chromosome Location	chr7:121596048-121599300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560490848	chr7:121596094-121596095	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532519570	chr7:121596095-121596096	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551714148	chr7:121596114-121596115	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6466810	chr7:121596116-121596117	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192502234	chr7:121596166-121596167	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143790565	chr7:121596170-121596171	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370140594	chr7:121596194-121596195	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138471062	chr7:121596207-121596208	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142493185	chr7:121596208-121596209	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535952741	chr7:121596210-121596211	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80053253	chr7:121596235-121596236	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566153271	chr7:121596316-121596317	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538214219	chr7:121596320-121596321	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559021637	chr7:121596341-121596342	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116523826	chr7:121596383-121596384	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544519013	chr7:121596414-121596415	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556539712	chr7:121596435-121596436	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112729158	chr7:121596451-121596452	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555154409	chr7:121596460-121596461	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116166079	chr7:121596527-121596528	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116619420	chr7:121596540-121596541	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1196481	chr7:121596593-121596594	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562328304	chr7:121596633-121596634	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540750960	chr7:121596645-121596646	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560534747	chr7:121596653-121596654	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368516954	chr7:121596662-121596663	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183776933	chr7:121596708-121596709	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188114950	chr7:121596730-121596731	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181355651	chr7:121596756-121596757	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530826796	chr7:121596777-121596778	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532906810	chr7:121596781-121596782	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550563688	chr7:121596788-121596789	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80263330	chr7:121596794-121596795	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146904419	chr7:121596818-121596819	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186485896	chr7:121596836-121596837	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566216400	chr7:121596925-121596926	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575988552	chr7:121596947-121596948	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541924399	chr7:121596966-121596967	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368480449	chr7:121596971-121596972	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9641680	chr7:121596972-121596973	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568719285	chr7:121596974-121596975	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528877220	chr7:121596982-121596983	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189791727	chr7:121597019-121597020	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373936533	chr7:121597023-121597024	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181885586	chr7:121597025-121597026	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540812193	chr7:121597048-121597049	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574334151	chr7:121597059-121597060	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374299191	chr7:121597074-121597075	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577410869	chr7:121597075-121597076	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1721859	chr7:121597108-121597109	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
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
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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
3	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain
5	chr7:121591800-121597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:121592000-121609600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121593000-121598000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:121593000-121600800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:121593400-121598600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:121594200-121597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:121594400-121599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:121595200-121600600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:121595400-121596600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:121595400-121599200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:121595400-121600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:121595400-121600000	Weak transcription	Fetal Brain Male	brain
17	chr7:121595400-121600000	Weak transcription	NHEK	skin
18	chr7:121595400-121600800	Weak transcription	NHDF-Ad	bronchial
19	chr7:121595400-121601000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:121595400-121601200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:121595400-121601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:121595600-121596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:121595600-121599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:121595600-121600600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:121595800-121597400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:121595800-121600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:121595800-121600800	Weak transcription	NH-A	brain
28	chr7:121595800-121601000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:121596000-121600800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:121596000-121618400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:121596600-121597800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:121596800-121601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:121597200-121597600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:121597400-121598400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:121597400-121598800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:121597600-121601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:121597800-121600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:121597800-121601200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:121598000-121599200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:121598600-121600000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:121598800-121599200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:121599200-121599600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:121599200-121599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:121599200-121599600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:121599200-121600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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