Variant report

Variant	nsv1019815
Chromosome Location	chr7:140206590-140235677
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
2	chr7:140225801..140226680-chr7:140238819..140239379,2	K562	blood:
3	chr17:80163640..80164146-chr7:140222699..140223679,2	Hela-S3	cervix:
4	chr7:140217530..140218341-chr7:140338101..140338802,2	MCF-7	breast:
5	chr7:140216203..140218694-chr7:140353097..140355919,3	MCF-7	breast:
6	chr7:140217150..140218325-chr7:140711569..140712510,4	K562	blood:
7	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
8	chr7:140177891..140180376-chr7:140211143..140213801,3	MCF-7	breast:
9	chr7:140221603..140223913-chr7:140237034..140239122,2	K562	blood:
10	chr7:140225049..140227766-chr7:140230491..140233082,2	MCF-7	breast:
11	chr7:140177890..140180491-chr7:140207898..140209465,2	K562	blood:
12	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
13	chr7:140174812..140177161-chr7:140216236..140218009,2	K562	blood:
14	chr7:140233192..140234849-chr7:140239387..140241238,2	K562	blood:
15	chr7:140177964..140180320-chr7:140226044..140228457,2	K562	blood:
16	chr7:140234432..140237105-chr7:140244585..140246864,2	K562	blood:
17	chr7:140207803..140209523-chr7:140395462..140398526,3	K562	blood:
18	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
19	chr7:140217421..140218389-chr7:140683292..140684296,3	K562	blood:
20	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
21	chr7:140177326..140179506-chr7:140211313..140213860,2	MCF-7	breast:
22	chr7:140217465..140218703-chr7:140352465..140353922,9	MCF-7	breast:
23	chr7:140216273..140216881-chr7:140352919..140353865,2	K562	blood:
24	chr7:140217592..140218317-chr7:140346880..140347484,2	MCF-7	breast:
25	chr7:140220132..140222856-chr7:140372163..140374665,2	MCF-7	breast:
26	chr7:140216375..140219201-chr7:140345522..140347108,2	MCF-7	breast:
27	chr7:140225049..140227766-chr7:140230491..140233082,2	MCF-7	breast:
28	chr7:140224000..140226834-chr7:140322770..140324470,2	MCF-7	breast:
29	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
30	chr7:140177793..140180325-chr7:140232986..140234950,2	K562	blood:
31	chr7:140217454..140218853-chr7:140346568..140347735,7	MCF-7	breast:
32	chr7:140217266..140218508-chr7:140352702..140354109,29	MCF-7	breast:
33	chr7:140175661..140178823-chr7:140215593..140219447,3	K562	blood:
34	chr7:140217094..140218389-chr7:140352924..140354007,12	K562	blood:
35	chr7:140175647..140176450-chr7:140217181..140217731,2	K562	blood:
36	chr7:140225861..140227593-chr7:140371387..140374219,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1287 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112084318	chr7:140206636-140206637	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62485798	chr7:140206685-140206686	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115537853	chr7:140206727-140206728	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553541794	chr7:140206804-140206805	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577296056	chr7:140206877-140206878	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565733262	chr7:140206913-140206914	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569585904	chr7:140206917-140206918	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545193683	chr7:140206918-140206919	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186908760	chr7:140206920-140206921	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575716046	chr7:140206935-140206936	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536932828	chr7:140206977-140206978	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73735366	chr7:140206982-140206983	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372321326	chr7:140206993-140206994	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374505895	chr7:140206999-140207000	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115517940	chr7:140207041-140207042	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559499816	chr7:140207062-140207063	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533206530	chr7:140207102-140207103	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551589098	chr7:140207132-140207133	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114257959	chr7:140207133-140207134	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2363820	chr7:140207141-140207142	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549374651	chr7:140207145-140207146	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567513510	chr7:140207169-140207170	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576908749	chr7:140207200-140207201	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192187254	chr7:140207225-140207226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149199929	chr7:140207273-140207274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577906410	chr7:140207280-140207281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183719965	chr7:140207298-140207299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11972243	chr7:140207313-140207314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557109632	chr7:140207341-140207342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56344848	chr7:140207344-140207345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541467060	chr7:140207348-140207349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561732372	chr7:140207350-140207351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146867326	chr7:140207362-140207363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559767973	chr7:140207364-140207365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559425351	chr7:140207404-140207405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11972270	chr7:140207431-140207432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533245396	chr7:140207481-140207482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551626309	chr7:140207491-140207492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186494933	chr7:140207501-140207502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531036486	chr7:140207502-140207503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549163421	chr7:140207529-140207530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567746014	chr7:140207574-140207575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534822914	chr7:140207577-140207578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66945646	chr7:140207598-140207599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11982560	chr7:140207600-140207601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138504258	chr7:140207647-140207648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73735367	chr7:140207667-140207668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7783408	chr7:140207694-140207695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116619132	chr7:140207722-140207723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571634891	chr7:140207747-140207748	Enhancers Weak transcription Flanking Active TSS	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:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr7:140202200-140206800	Weak transcription	Fetal Intestine Large	intestine
4	chr7:140202400-140206600	Weak transcription	Pancreas	Pancrea
5	chr7:140202400-140206800	Weak transcription	Stomach Mucosa	stomach
6	chr7:140205200-140208000	Enhancers	Fetal Muscle Leg	muscle
7	chr7:140205800-140206800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
9	chr7:140206000-140207200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:140206000-140207400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:140206000-140207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:140206000-140207400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:140206000-140208800	Enhancers	Fetal Heart	heart
14	chr7:140206200-140206600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:140206200-140206600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:140206200-140207000	Enhancers	HMEC	breast
17	chr7:140206200-140207200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140206200-140207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:140206200-140207200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:140206200-140207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:140206200-140207200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr7:140206200-140207200	Enhancers	HSMM	muscle
23	chr7:140206200-140207400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:140206200-140207400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:140206200-140207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:140206200-140207400	Enhancers	Placenta	Placenta
27	chr7:140206200-140207400	Enhancers	Fetal Stomach	stomach
28	chr7:140206200-140207600	Enhancers	K562	blood
29	chr7:140206200-140207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:140206200-140207800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr7:140206200-140207800	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:140206200-140208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:140206200-140208000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:140206200-140208000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:140206200-140208200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:140206200-140208200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:140206200-140208400	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:140206200-140208400	Enhancers	Ovary	ovary
39	chr7:140206200-140208600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:140206200-140209000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:140206400-140206600	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr7:140206400-140206600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr7:140206400-140206600	Flanking Active TSS	HSMMtube	muscle
44	chr7:140206400-140206800	Enhancers	Brain Angular Gyrus	brain
45	chr7:140206400-140206800	Weak transcription	Left Ventricle	heart
46	chr7:140206400-140207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:140206400-140207000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:140206400-140207000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:140206400-140207000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:140206400-140207000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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