Variant report

Variant	nsv888539
Chromosome Location	chr7:80292449-80301004
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	CTCF	chr7:80298440-80298590	MCF-7	breast:	n/a	n/a
2	CTCF	chr7:80298856-80298920	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOS	chr7:80295794-80295996	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:80295851-80296016	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:80294937-80295105	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:80294973-80295154	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:80295829-80295914	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:80294966-80295118	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr7:80295721-80296084	A549	lung:	n/a	chr7:80295810-80295822
10	GATA3	chr7:80298146-80298150	SH-SY5Y	brain:	n/a	n/a
11	KAP1	chr7:80295696-80296031	K562	blood:	n/a	n/a
12	MAFK	chr7:80294280-80294493	HepG2	liver:	n/a	chr7:80294361-80294381 chr7:80294370-80294381 chr7:80294363-80294379
13	MYC	chr7:80293964-80293973	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR3C1	chr7:80295712-80296017	A549	lung:	n/a	n/a
15	NR3C1	chr7:80295715-80296008	A549	lung:	n/a	n/a
16	POLR2A	chr7:80294797-80294964	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:80297422-80298519	PBDE	blood:	n/a	n/a
18	POLR2A	chr7:80298823-80301129	PBDE	blood:	n/a	n/a
19	POLR2A	chr7:80295380-80295407	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:80297090-80297194	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:80289399-80296964	PBDE	blood:	n/a	n/a
22	RXRA	chr7:80297069-80297252	HepG2	liver:	n/a	n/a
23	SPI1	chr7:80300989-80301490	HL-60	blood:	n/a	n/a
24	STAT3	chr7:80295714-80296015	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr7:80295751-80295995	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr7:80299245-80299445	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr7:80292798-80293247	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr7:80295751-80295963	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr7:80295584-80296201	A549	lung:	n/a	n/a
30	TCF7L2	chr7:80293280-80293556	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: 439 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5956	chr7:80292449-80292450	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530761892	chr7:80292461-80292462	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs1130696	chr7:80292464-80292465	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs141680676	chr7:80292467-80292468	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs569959776	chr7:80292482-80292483	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs3173801	chr7:80292559-80292560	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552727703	chr7:80292576-80292577	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs566211840	chr7:80292606-80292607	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs535219485	chr7:80292646-80292647	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs557149007	chr7:80292714-80292715	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs555248918	chr7:80292715-80292716	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs575029352	chr7:80292731-80292732	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs537351616	chr7:80292740-80292741	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs556879307	chr7:80292745-80292746	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs3211902	chr7:80292748-80292749	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139899082	chr7:80292758-80292759	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs550208661	chr7:80292797-80292798	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs368817844	chr7:80292798-80292799	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs552636681	chr7:80292817-80292818	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs572644678	chr7:80292833-80292834	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs181474845	chr7:80292843-80292844	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs117867719	chr7:80292861-80292862	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs539713687	chr7:80292867-80292868	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs566319334	chr7:80292871-80292872	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs144230769	chr7:80292884-80292885	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs186415800	chr7:80292903-80292904	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs3211904	chr7:80292926-80292927	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs563673201	chr7:80292929-80292930	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs17154232	chr7:80293041-80293042	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562394115	chr7:80293059-80293060	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs552642089	chr7:80293098-80293099	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs116966875	chr7:80293106-80293107	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs533669938	chr7:80293150-80293151	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs528598957	chr7:80293155-80293156	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs548757536	chr7:80293158-80293159	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs568572959	chr7:80293171-80293172	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs17154233	chr7:80293189-80293190	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs11574715	chr7:80293194-80293195	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs572012573	chr7:80293200-80293201	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs532956126	chr7:80293204-80293205	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs3211905	chr7:80293208-80293209	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17154239	chr7:80293213-80293214	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201856700	chr7:80293263-80293264	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs531855453	chr7:80293264-80293265	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs3211906	chr7:80293271-80293272	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs372496431	chr7:80293309-80293310	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs189200390	chr7:80293338-80293339	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs572559956	chr7:80293400-80293401	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs541535595	chr7:80293498-80293499	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs555503651	chr7:80293534-80293535	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 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:61 , 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	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
3	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:80283200-80292600	Genic enhancers	Adipose Nuclei	Adipose
6	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
7	chr7:80285800-80308200	Weak transcription	Liver	Liver
8	chr7:80288600-80306800	Weak transcription	Lung	lung
9	chr7:80288800-80295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:80288800-80301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:80288800-80308200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:80288800-80309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:80289000-80294400	Weak transcription	Fetal Lung	lung
14	chr7:80289000-80305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:80289000-80308400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:80290000-80293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:80290000-80294600	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:80290200-80299200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:80291800-80299600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:80291800-80305400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:80292000-80294200	Strong transcription	Fetal Heart	heart
22	chr7:80292000-80305200	Weak transcription	Right Ventricle	heart
23	chr7:80292000-80307400	Weak transcription	Spleen	Spleen
24	chr7:80292200-80296400	Weak transcription	Left Ventricle	heart
25	chr7:80292200-80303600	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:80292600-80293800	Strong transcription	Adipose Nuclei	Adipose
27	chr7:80292800-80295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:80293200-80293600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:80293200-80294200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:80293600-80294200	Strong transcription	Placenta	Placenta
31	chr7:80293600-80304400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:80293800-80294200	Genic enhancers	Adipose Nuclei	Adipose
33	chr7:80294200-80294800	Weak transcription	Placenta	Placenta
34	chr7:80294200-80295200	Weak transcription	Fetal Heart	heart
35	chr7:80294200-80305800	Strong transcription	Adipose Nuclei	Adipose
36	chr7:80294400-80299400	Weak transcription	Fetal Intestine Large	intestine
37	chr7:80294600-80295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:80294800-80295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:80294800-80295400	Enhancers	NHEK	skin
40	chr7:80294800-80296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:80294800-80296400	Strong transcription	Placenta	Placenta
42	chr7:80295000-80296000	Enhancers	HMEC	breast
43	chr7:80295200-80296000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:80295200-80296000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:80295200-80296000	Strong transcription	Fetal Heart	heart
46	chr7:80295200-80296400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:80295400-80296000	Enhancers	A549	lung
48	chr7:80295400-80300400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:80296000-80309000	Weak transcription	Fetal Heart	heart
50	chr7:80296400-80297400	Genic enhancers	Left Ventricle	heart

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