Variant report

Variant	esv3400622
Chromosome Location	chr3:99629612-99630481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99624361..99628142-chr3:99629982..99633873,3	MCF-7	breast:
2	chr3:99595655..99597769-chr3:99630372..99633111,2	K562	blood:
3	chr3:99629219..99631187-chr3:99636036..99638648,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367810026	chr3:99629636-99629637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577030088	chr3:99629711-99629712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533862428	chr3:99629740-99629741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148884037	chr3:99629770-99629771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567445065	chr3:99629774-99629775	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537771485	chr3:99629784-99629785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555150114	chr3:99629824-99629825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76686852	chr3:99629933-99629934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577968425	chr3:99629963-99629964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142608314	chr3:99629999-99630000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150974543	chr3:99630013-99630014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182343867	chr3:99630069-99630070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535590632	chr3:99630093-99630094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558963550	chr3:99630104-99630105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140787623	chr3:99630212-99630213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187774917	chr3:99630226-99630227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531908134	chr3:99630247-99630248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16841824	chr3:99630284-99630285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565524513	chr3:99630321-99630322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532689192	chr3:99630331-99630332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551395074	chr3:99630347-99630348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566458584	chr3:99630360-99630361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527409231	chr3:99630385-99630386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549070462	chr3:99630438-99630439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567484304	chr3:99630447-99630448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35243137	chr3:99630472-99630473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192525644	chr3:99630480-99630481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99619600-99644400	Weak transcription	Right Ventricle	heart
5	chr3:99620000-99629800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:99620000-99638600	Weak transcription	Small Intestine	intestine
7	chr3:99621200-99638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:99621400-99629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:99625000-99632800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:99625000-99639400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:99626200-99630000	Enhancers	HepG2	liver
12	chr3:99626800-99629800	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:99626800-99631200	Enhancers	NHEK	skin
14	chr3:99627200-99630000	Enhancers	Hela-S3	cervix
15	chr3:99627200-99630600	Enhancers	Stomach Mucosa	stomach
16	chr3:99627200-99638600	Weak transcription	K562	blood
17	chr3:99627800-99631200	Enhancers	HMEC	breast
18	chr3:99628000-99629800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:99628000-99630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:99628000-99631200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:99628200-99629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:99628200-99630400	Weak transcription	Fetal Kidney	kidney
23	chr3:99628200-99630600	Enhancers	Osteobl	bone
24	chr3:99628400-99630600	Enhancers	NH-A	brain
25	chr3:99628400-99630800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:99628400-99630800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:99628400-99631400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:99628600-99629800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:99628600-99629800	Flanking Active TSS	A549	lung
30	chr3:99628600-99630000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:99628600-99630000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:99628600-99630000	Enhancers	Rectal Smooth Muscle	rectum
33	chr3:99628600-99630000	Enhancers	HUVEC	blood vessel
34	chr3:99628600-99630400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:99628600-99630600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:99628600-99630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:99628600-99630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:99628600-99631400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:99628800-99629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:99628800-99629800	Weak transcription	Psoas Muscle	Psoas
41	chr3:99628800-99630000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:99629000-99639400	Weak transcription	HSMM	muscle
43	chr3:99629200-99630600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:99629200-99630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:99629400-99630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:99629400-99631200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:99629600-99629800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:99629600-99630000	Enhancers	HSMMtube	muscle
49	chr3:99629600-99630400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:99629600-99630600	Enhancers	Skeletal Muscle Male	skeletal muscle

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