Variant report

Variant	esv3429631
Chromosome Location	chr3:78730837-78733085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:78731540..78733318-chr3:78736558..78739204,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534689092	chr3:78730846-78730847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550355088	chr3:78730847-78730848	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200038303	chr3:78730851-78730852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372517995	chr3:78730870-78730871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142223919	chr3:78730880-78730881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151026714	chr3:78730889-78730890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556348916	chr3:78730908-78730909	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140949939	chr3:78730909-78730910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570993572	chr3:78730943-78730944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545229614	chr3:78730954-78730955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558555677	chr3:78730955-78730956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572332648	chr3:78730958-78730959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540593670	chr3:78730975-78730976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560565748	chr3:78730984-78730985	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530998188	chr3:78730987-78730988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376534151	chr3:78730992-78730993	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543113922	chr3:78731006-78731007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563085898	chr3:78731027-78731028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532585019	chr3:78731030-78731031	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191869150	chr3:78731031-78731032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539768861	chr3:78731043-78731044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528207689	chr3:78731089-78731090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77982510	chr3:78731093-78731094	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373321435	chr3:78731174-78731175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371026163	chr3:78731260-78731261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548360549	chr3:78731271-78731272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568468567	chr3:78731275-78731276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs118067246	chr3:78731283-78731284	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552767760	chr3:78731288-78731289	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537489148	chr3:78731296-78731297	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73850750	chr3:78731302-78731303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77675776	chr3:78731303-78731304	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs377604672	chr3:78731402-78731403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150201193	chr3:78731407-78731408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181896092	chr3:78731410-78731411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572209811	chr3:78731437-78731438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568285977	chr3:78731495-78731496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540934107	chr3:78731510-78731511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554903234	chr3:78731588-78731589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199702968	chr3:78731598-78731599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539335028	chr3:78731604-78731605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201562025	chr3:78731653-78731654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370101680	chr3:78731654-78731655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113204783	chr3:78731660-78731661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554094220	chr3:78731665-78731666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139127458	chr3:78731691-78731692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568816228	chr3:78731732-78731733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567715446	chr3:78731764-78731765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543052186	chr3:78731849-78731850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538947018	chr3:78731857-78731858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
2	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
3	chr3:78679200-78733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:78679400-78736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:78694400-78733200	Weak transcription	Fetal Kidney	kidney
6	chr3:78703200-78739200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:78706400-78736200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:78706600-78735200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:78706600-78736400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:78707000-78735400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:78716000-78739600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:78716600-78733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:78717600-78733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:78717600-78739600	Weak transcription	Osteobl	bone
15	chr3:78717800-78736800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:78717800-78745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:78717800-78748400	Weak transcription	Ovary	ovary
18	chr3:78718600-78739200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:78719400-78736800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:78719600-78753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:78720000-78737800	Weak transcription	Fetal Brain Female	brain
22	chr3:78720000-78753200	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:78720200-78731600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:78724400-78738200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:78724800-78733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:78727200-78738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:78729200-78732200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:78730400-78731000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:78730400-78731200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:78730400-78731200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:78730400-78731200	Strong transcription	Fetal Lung	lung
32	chr3:78730400-78731400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:78730400-78752600	Weak transcription	Fetal Stomach	stomach
34	chr3:78730600-78731200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:78730600-78731200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:78730600-78731200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:78730600-78731400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:78730600-78731800	Strong transcription	HepG2	liver
39	chr3:78730800-78731200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:78730800-78738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:78731000-78731200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:78731000-78733600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:78731200-78733200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:78731200-78733200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:78731200-78733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:78731200-78733200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:78731200-78733200	Weak transcription	Fetal Lung	lung
48	chr3:78731200-78736600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:78731200-78737800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:78731400-78733200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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