Variant report

Variant	nsv971546
Chromosome Location	chr7:140806435-140830923
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140825224..140827194-chr7:140830158..140832101,2	MCF-7	breast:
2	chr7:140809551..140812194-chr7:140815553..140817861,2	K562	blood:
3	chr7:140825127..140826648-chr7:140830535..140832414,2	K562	blood:
4	chr7:140771513..140774037-chr7:140822802..140824593,2	MCF-7	breast:
5	chr7:140815801..140817382-chr7:140818950..140821783,2	MCF-7	breast:
6	chr7:140815943..140817900-chr7:140945152..140947354,2	K562	blood:
7	chr7:140815801..140817382-chr7:140818950..140821783,2	MCF-7	breast:
8	chr7:140809551..140812194-chr7:140815553..140817861,2	K562	blood:
9	chr7:140824143..140826082-chr7:140845045..140846801,2	MCF-7	breast:
10	chr7:140826114..140828540-chr7:140839520..140841389,2	K562	blood:
11	chr7:140776160..140778796-chr7:140827028..140829508,2	MCF-7	breast:
12	chr7:140825127..140826648-chr7:140830535..140832414,2	K562	blood:
13	chr7:140825224..140827194-chr7:140830158..140832101,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261115	chromatin interactions

Extended variants
information (count: 682 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:682 , 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	rs189868719	chr7:140810632-140810633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140349860	chr7:140810635-140810636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181171229	chr7:140810643-140810644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369600477	chr7:140810646-140810647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12666997	chr7:140810670-140810671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566170502	chr7:140810672-140810673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150351205	chr7:140810689-140810690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79964556	chr7:140810720-140810721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138066378	chr7:140810733-140810734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577791991	chr7:140810746-140810747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570350920	chr7:140810747-140810748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537743141	chr7:140810801-140810802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372999159	chr7:140810806-140810807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567921317	chr7:140810833-140810834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149116212	chr7:140810840-140810841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186628300	chr7:140810880-140810881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2018320	chr7:140810892-140810893	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs572121228	chr7:140810918-140810919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144960105	chr7:140810920-140810921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138828248	chr7:140810945-140810946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374393771	chr7:140810979-140810980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200093865	chr7:140811024-140811025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553651095	chr7:140811035-140811036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562415763	chr7:140811083-140811084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572002740	chr7:140811106-140811107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142025032	chr7:140811113-140811114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372812977	chr7:140811115-140811116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191506664	chr7:140811142-140811143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533239239	chr7:140811219-140811220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs887618	chr7:140811245-140811246	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs375103029	chr7:140811303-140811304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570301372	chr7:140811372-140811373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146344592	chr7:140811373-140811374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549616159	chr7:140811394-140811395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560929260	chr7:140811442-140811443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370624640	chr7:140811443-140811444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553712951	chr7:140811464-140811465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35579660	chr7:140811477-140811478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565567176	chr7:140811560-140811561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148138989	chr7:140811621-140811622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141919989	chr7:140811622-140811623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576670269	chr7:140811676-140811677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537645736	chr7:140811679-140811680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555758188	chr7:140811680-140811681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574292574	chr7:140811733-140811734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541399102	chr7:140811747-140811748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559679997	chr7:140811879-140811880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576156046	chr7:140811897-140811898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577653391	chr7:140811919-140811920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543325232	chr7:140811925-140811926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	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
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140810600-140816000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:140811400-140812800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:140812800-140813400	Enhancers	Fetal Brain Male	brain
4	chr7:140812800-140813800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:140813200-140814200	Enhancers	Gastric	stomach
6	chr7:140813200-140818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:140813400-140818400	Weak transcription	Fetal Brain Male	brain
8	chr7:140813800-140814200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:140813800-140814800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:140814000-140814800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:140814800-140816000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:140815000-140821600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:140815400-140816200	Enhancers	Pancreas	Pancrea
14	chr7:140815800-140816000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:140815800-140816000	Enhancers	Fetal Lung	lung
16	chr7:140816000-140816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:140816000-140816200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140816000-140816200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:140816000-140816200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:140816000-140818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:140816200-140818000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:140816200-140821000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:140816200-140821600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:140816200-140823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:140817800-140820000	Enhancers	Fetal Lung	lung
26	chr7:140818000-140818200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:140818000-140818200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:140818200-140818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:140818200-140818800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:140818200-140819200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:140818400-140818800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:140818400-140819000	Enhancers	Fetal Brain Male	brain
33	chr7:140818600-140819400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:140818800-140819000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:140818800-140819400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140818800-140821200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:140819000-140819400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:140819000-140819800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:140819000-140822200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:140819000-140822400	Weak transcription	Fetal Brain Male	brain
41	chr7:140819200-140819600	Active TSS	Spleen	Spleen
42	chr7:140819200-140832400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:140819400-140821200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:140819400-140832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140819400-140832400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:140820000-140822000	Weak transcription	Fetal Lung	lung
47	chr7:140821000-140821600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:140821200-140821400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:140821200-140821800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:140821600-140821800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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