Variant report

Variant	esv3423984
Chromosome Location	chr7:101479951-101480298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101477818..101480312-chr7:101481428..101485142,3	MCF-7	breast:
2	chr3:64004529..64006827-chr7:101477870..101480466,2	MCF-7	breast:
3	chr7:101468629..101471194-chr7:101478234..101481000,2	K562	blood:
4	chr7:101456314..101463577-chr7:101474956..101483680,15	K562	blood:
5	chr7:101477313..101480622-chr7:101482401..101485267,3	K562	blood:
6	chr7:101476458..101480622-chr7:101482401..101486770,4	K562	blood:
7	chr7:101478135..101485394-chr7:101496220..101502463,10	K562	blood:

Variant related genes	Relation type
ENSG00000163636	chromatin interactions
ENSG00000272181	chromatin interactions
ENSG00000257923	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71755816	chr7:101479965-101479966	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs74273512	chr7:101479985-101479986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs181334070	chr7:101479998-101479999	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs115895008	chr7:101480022-101480023	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555413378	chr7:101480026-101480027	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370442791	chr7:101480039-101480040	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573912560	chr7:101480044-101480045	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2970465	chr7:101480065-101480066	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556862916	chr7:101480112-101480113	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs578181691	chr7:101480133-101480134	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs186405758	chr7:101480239-101480240	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs560170879	chr7:101480240-101480241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368525036	chr7:101480247-101480248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs151258493	chr7:101480265-101480266	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs140594801	chr7:101480297-101480298	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:101461800-101489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:101462200-101482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:101462200-101484200	Weak transcription	Fetal Kidney	kidney
5	chr7:101463800-101489800	Weak transcription	NHEK	skin
6	chr7:101464600-101488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:101465800-101482000	Weak transcription	K562	blood
8	chr7:101466800-101482200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:101466800-101489800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:101467000-101480200	Weak transcription	Aorta	Aorta
12	chr7:101467000-101480200	Weak transcription	Pancreas	Pancrea
13	chr7:101467000-101480600	Weak transcription	HSMM	muscle
14	chr7:101467000-101482000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:101467200-101481800	Weak transcription	Liver	Liver
16	chr7:101467200-101490400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:101467400-101490400	Weak transcription	Fetal Lung	lung
18	chr7:101468800-101486600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:101469000-101483000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:101469000-101486600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:101469000-101489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:101469200-101489800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:101469400-101487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:101469400-101489800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:101469600-101480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:101469600-101487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:101469600-101490000	Weak transcription	HepG2	liver
28	chr7:101470000-101480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:101470000-101482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:101470000-101496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:101470200-101482200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:101470200-101482200	Weak transcription	Ovary	ovary
33	chr7:101472000-101486800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:101472000-101490400	Weak transcription	Osteobl	bone
35	chr7:101472400-101489400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:101472600-101481800	Weak transcription	Right Atrium	heart
37	chr7:101472600-101482000	Weak transcription	Fetal Heart	heart
38	chr7:101472800-101488600	Weak transcription	Hela-S3	cervix
39	chr7:101473400-101490600	Weak transcription	Primary T cells from cord blood	blood
40	chr7:101473600-101482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:101473800-101481800	Weak transcription	Lung	lung
42	chr7:101474600-101487000	Weak transcription	Dnd41	blood
43	chr7:101474800-101489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:101475000-101482000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:101475000-101488600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:101475600-101480000	Weak transcription	Left Ventricle	heart
47	chr7:101475600-101481000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:101475600-101482200	Weak transcription	Fetal Thymus	thymus
49	chr7:101475600-101488400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:101475600-101488800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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