Variant report

Variant	nsv888546
Chromosome Location	chr7:80294681-80303350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:80302176-80302364	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:80298440-80298590	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:80298856-80298920	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr7:80295829-80295914	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:80295851-80296016	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:80295794-80295996	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:80294966-80295118	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:80294973-80295154	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:80294937-80295105	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr7:80295721-80296084	A549	lung:	n/a	chr7:80295810-80295822
11	GATA3	chr7:80298146-80298150	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr7:80302253-80302256	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr7:80302028-80302536	MCF-7	breast:	n/a	n/a
14	KAP1	chr7:80295696-80296031	K562	blood:	n/a	n/a
15	NR3C1	chr7:80295712-80296017	A549	lung:	n/a	n/a
16	NR3C1	chr7:80295715-80296008	A549	lung:	n/a	n/a
17	POLR2A	chr7:80289399-80296964	PBDE	blood:	n/a	n/a
18	POLR2A	chr7:80302837-80310420	PBDE	blood:	n/a	n/a
19	POLR2A	chr7:80297422-80298519	PBDE	blood:	n/a	n/a
20	POLR2A	chr7:80297090-80297194	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:80298823-80301129	PBDE	blood:	n/a	n/a
22	POLR2A	chr7:80295380-80295407	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:80294797-80294964	MCF10A-Er-Src	breast:	n/a	n/a
24	RXRA	chr7:80297069-80297252	HepG2	liver:	n/a	n/a
25	SPI1	chr7:80301182-80301320	GM12878	blood:	n/a	n/a
26	SPI1	chr7:80301040-80301363	GM12891	blood:	n/a	n/a
27	SPI1	chr7:80301086-80301350	GM12891	blood:	n/a	n/a
28	SPI1	chr7:80301071-80301474	HL-60	blood:	n/a	n/a
29	SPI1	chr7:80301117-80301394	GM12878	blood:	n/a	n/a
30	SPI1	chr7:80300989-80301490	HL-60	blood:	n/a	n/a
31	STAT3	chr7:80295714-80296015	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:80299245-80299445	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr7:80295751-80295995	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr7:80295751-80295963	MCF10A-Er-Src	breast:	n/a	n/a
35	TCF12	chr7:80295584-80296201	A549	lung:	n/a	n/a
36	TCF7L2	chr7:80301785-80302028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80296853..80299195-chr7:80307235..80310003,2	MCF-7	breast:

Variant related genes	Relation type
CD36	TF binding region
ENSG00000229436	TF binding region

Extended variants
information (count: 482 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3211914	chr7:80294681-80294682	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201512837	chr7:80294708-80294709	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs374408212	chr7:80294709-80294710	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs3211915	chr7:80294729-80294730	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs562119393	chr7:80294752-80294753	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs575612629	chr7:80294809-80294810	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs3211916	chr7:80294810-80294811	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs370855870	chr7:80294811-80294812	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs564313399	chr7:80294849-80294850	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs533329134	chr7:80294850-80294851	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs187975123	chr7:80294873-80294874	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs570132472	chr7:80294886-80294887	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs560408745	chr7:80294903-80294904	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs529592897	chr7:80294907-80294908	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs375675817	chr7:80294933-80294934	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs200011715	chr7:80294938-80294939	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs568850728	chr7:80294966-80294967	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs144063248	chr7:80294971-80294972	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs192362573	chr7:80295015-80295016	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs376412428	chr7:80295034-80295035	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs116282077	chr7:80295097-80295098	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs73709014	chr7:80295102-80295103	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554057063	chr7:80295144-80295145	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs115983836	chr7:80295166-80295167	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs536559301	chr7:80295190-80295191	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs555443863	chr7:80295194-80295195	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs575617719	chr7:80295227-80295228	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs17154246	chr7:80295234-80295235	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs3211917	chr7:80295301-80295302	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182335072	chr7:80295310-80295311	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs540380192	chr7:80295338-80295339	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557459507	chr7:80295347-80295348	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560322229	chr7:80295404-80295405	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545385550	chr7:80295434-80295435	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs577008814	chr7:80295442-80295443	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs146447885	chr7:80295450-80295451	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3211918	chr7:80295452-80295453	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563064715	chr7:80295453-80295454	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546029181	chr7:80295487-80295488	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531319151	chr7:80295493-80295494	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375049555	chr7:80295517-80295518	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs551434799	chr7:80295520-80295521	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140816316	chr7:80295532-80295533	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535332272	chr7:80295535-80295536	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3736592	chr7:80295553-80295554	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567486636	chr7:80295574-80295575	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188030262	chr7:80295577-80295578	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs192303439	chr7:80295657-80295658	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556402579	chr7:80295659-80295660	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs3212012	chr7:80295701-80295702	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	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
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
5	chr7:80285800-80308200	Weak transcription	Liver	Liver
6	chr7:80288600-80306800	Weak transcription	Lung	lung
7	chr7:80288800-80295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80288800-80301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:80288800-80308200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:80288800-80309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:80289000-80305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:80289000-80308400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:80290200-80299200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:80291800-80299600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:80291800-80305400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:80292000-80305200	Weak transcription	Right Ventricle	heart
17	chr7:80292000-80307400	Weak transcription	Spleen	Spleen
18	chr7:80292200-80296400	Weak transcription	Left Ventricle	heart
19	chr7:80292200-80303600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:80292800-80295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:80293600-80304400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:80294200-80294800	Weak transcription	Placenta	Placenta
23	chr7:80294200-80295200	Weak transcription	Fetal Heart	heart
24	chr7:80294200-80305800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:80294400-80299400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:80294600-80295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:80294800-80295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:80294800-80295400	Enhancers	NHEK	skin
29	chr7:80294800-80296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:80294800-80296400	Strong transcription	Placenta	Placenta
31	chr7:80295000-80296000	Enhancers	HMEC	breast
32	chr7:80295200-80296000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:80295200-80296000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:80295200-80296000	Strong transcription	Fetal Heart	heart
35	chr7:80295200-80296400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:80295400-80296000	Enhancers	A549	lung
37	chr7:80295400-80300400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:80296000-80309000	Weak transcription	Fetal Heart	heart
39	chr7:80296400-80297400	Genic enhancers	Left Ventricle	heart
40	chr7:80296400-80302400	Weak transcription	Placenta	Placenta
41	chr7:80296400-80315800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:80297400-80298800	Weak transcription	Left Ventricle	heart
43	chr7:80298800-80299000	Genic enhancers	Left Ventricle	heart
44	chr7:80299000-80299800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr7:80299000-80300600	Strong transcription	Left Ventricle	heart
46	chr7:80299200-80302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:80299600-80299800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:80300400-80302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:80300600-80305000	Weak transcription	Left Ventricle	heart
50	chr7:80300800-80301000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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