Variant report

Variant	nsv966784
Chromosome Location	chr7:40155233-40159978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:40156004-40156016	GM10266	blood:	n/a	n/a
2	E2F4	chr7:40156829-40157178	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr7:40156697-40157383	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr7:40156815-40157307	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:40156819-40157242	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:40156813-40157242	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:40156815-40157316	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr7:40156920-40157176	MCF-7	breast:	n/a	n/a
9	JUND	chr7:40157001-40157025	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr7:40156910-40157226	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr7:40156822-40157300	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:40158631-40158781	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:40156817-40157336	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:40159221-40159448	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:40156749-40156845	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr7:40159720-40160381	K562	blood:	n/a	n/a
17	POLR2A	chr7:40158301-40158318	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:40159730-40159827	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:40158639-40158823	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:40157110-40157301	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:40158886-40158939	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:40158153-40158248	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:40159901-40160162	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:40159675-40159773	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:40157378-40157388	K562	blood:	n/a	n/a
26	SRF	chr7:40156974-40157461	ECC-1	luminal epithelium:	n/a	n/a
27	STAT3	chr7:40156813-40157341	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr7:40156814-40157306	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr7:40156897-40157188	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr7:40156831-40157416	MCF10A-Er-Src	breast:	n/a	n/a
31	TEAD4	chr7:40156909-40157358	ECC-1	luminal epithelium:	n/a	chr7:40157076-40157085
32	ZNF384	chr7:40159776-40160050	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40157051..40160727-chr7:40165883..40170112,5	K562	blood:
2	chr7:40157076..40159444-chr7:40173522..40176316,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK13-3	chr7:40155284-40155542	NONHSAT120244

No data

Variant related genes	Relation type
ENSG00000270577	TF binding region
ENSG00000168303	chromatin interactions
ENSG00000199273	chromatin interactions
ENSG00000175600	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6952198	chr7:40155254-40155255	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571665559	chr7:40155287-40155288	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114919357	chr7:40155311-40155312	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560590895	chr7:40155322-40155323	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs375954249	chr7:40155330-40155331	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113570334	chr7:40155343-40155344	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563123762	chr7:40155376-40155377	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs182292510	chr7:40155386-40155387	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548664677	chr7:40155389-40155390	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200318625	chr7:40155403-40155404	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12112449	chr7:40155424-40155425	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs527659152	chr7:40155465-40155466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs56383977	chr7:40155576-40155577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570638291	chr7:40155605-40155606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7786147	chr7:40155624-40155625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549559102	chr7:40155696-40155697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373941365	chr7:40155714-40155715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569555470	chr7:40155735-40155736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368984626	chr7:40155786-40155787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554996519	chr7:40155840-40155841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572127148	chr7:40155860-40155861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201397639	chr7:40155869-40155870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557764150	chr7:40155870-40155871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577465286	chr7:40155877-40155878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141348104	chr7:40155924-40155925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146971439	chr7:40155947-40155948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576665966	chr7:40156002-40156003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542466678	chr7:40156013-40156014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138033550	chr7:40156020-40156021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187749292	chr7:40156047-40156048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1638973	chr7:40156067-40156068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192677747	chr7:40156088-40156089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574862443	chr7:40156111-40156112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373519593	chr7:40156128-40156129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549624336	chr7:40156129-40156130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569617305	chr7:40156167-40156168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565957894	chr7:40156185-40156186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79343495	chr7:40156259-40156260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548221850	chr7:40156294-40156295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544634796	chr7:40156358-40156359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371682363	chr7:40156361-40156362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4720351	chr7:40156414-40156415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149388283	chr7:40156448-40156449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569640816	chr7:40156490-40156491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77172512	chr7:40156521-40156522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74420731	chr7:40156528-40156529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74866248	chr7:40156529-40156530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537674191	chr7:40156545-40156546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs70996887	chr7:40156555-40156556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369081055	chr7:40156574-40156575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40159600	Weak transcription	Left Ventricle	heart
2	chr7:40134600-40161800	Weak transcription	Pancreas	Pancrea
3	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:40134600-40173200	Weak transcription	Lung	lung
5	chr7:40134800-40155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:40134800-40166800	Weak transcription	Fetal Stomach	stomach
7	chr7:40135000-40157000	Weak transcription	HSMMtube	muscle
8	chr7:40135000-40166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
10	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:40136000-40172200	Weak transcription	Osteobl	bone
14	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:40136600-40168200	Weak transcription	Primary B cells from cord blood	blood
16	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
17	chr7:40137000-40166800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
19	chr7:40137600-40170600	Weak transcription	Dnd41	blood
20	chr7:40137600-40171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:40137600-40172200	Weak transcription	A549	lung
22	chr7:40137800-40166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:40137800-40170200	Weak transcription	HSMM	muscle
24	chr7:40137800-40171800	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:40138000-40159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:40139400-40160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:40147000-40157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:40147400-40161800	Weak transcription	Fetal Intestine Large	intestine
29	chr7:40148400-40169400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:40150000-40162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:40151600-40156400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:40152400-40171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:40152600-40166200	Weak transcription	Fetal Intestine Small	intestine
34	chr7:40152600-40171200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:40152600-40171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:40152600-40171600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:40152600-40172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:40153600-40156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:40154200-40159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:40155000-40155400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:40155400-40167000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:40156200-40156600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:40156600-40162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:40157000-40157400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:40157000-40157400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:40157000-40157400	Enhancers	HMEC	breast
47	chr7:40157200-40157400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:40157200-40157400	Enhancers	NH-A	brain
49	chr7:40157400-40171600	Weak transcription	NH-A	brain
50	chr7:40157400-40171800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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