Variant report

Variant	esv3442204
Chromosome Location	chr7:102085509-102085623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102035707..102037927-chr7:102085118..102087010,2	MCF-7	breast:
2	chr7:102085518..102087165-chr7:102088201..102092179,3	K562	blood:
3	chr7:102085208..102087796-chr7:102094817..102096828,2	K562	blood:

Variant related genes	Relation type
ENSG00000128563	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575343965	chr7:102085526-102085527	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372258962	chr7:102085527-102085528	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146351965	chr7:102085529-102085530	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149658601	chr7:102085531-102085532	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558053239	chr7:102085566-102085567	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573014614	chr7:102085569-102085570	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540427879	chr7:102085579-102085580	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561599040	chr7:102085588-102085589	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573494325	chr7:102085592-102085593	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35031483	chr7:102085603-102085604	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541955137	chr7:102085607-102085608	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12671497	chr7:102085611-102085612	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102074600-102086800	Weak transcription	Aorta	Aorta
2	chr7:102075000-102086800	Weak transcription	Fetal Lung	lung
3	chr7:102075000-102099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:102075000-102104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:102075200-102085600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:102075200-102086800	Weak transcription	Liver	Liver
7	chr7:102075200-102086800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:102075200-102086800	Weak transcription	Colonic Mucosa	Colon
9	chr7:102075200-102086800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:102075200-102087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:102075200-102092000	Weak transcription	Esophagus	oesophagus
12	chr7:102075200-102095200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:102075200-102097600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:102075200-102104200	Weak transcription	Fetal Kidney	kidney
15	chr7:102075400-102087000	Weak transcription	Placenta	Placenta
16	chr7:102075400-102087000	Weak transcription	Pancreas	Pancrea
17	chr7:102075400-102087000	Weak transcription	Dnd41	blood
18	chr7:102075400-102097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:102075600-102103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:102075800-102103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:102076000-102086800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:102076000-102097600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:102076000-102104200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:102076600-102090000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:102076600-102091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:102076600-102091400	Strong transcription	Fetal Stomach	stomach
27	chr7:102079800-102085600	Weak transcription	Ovary	ovary
28	chr7:102079800-102086800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:102080000-102086800	Weak transcription	NHLF	lung
30	chr7:102081000-102086800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:102081000-102087000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:102081000-102087200	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:102081000-102088800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:102081000-102091800	Weak transcription	HSMMtube	muscle
35	chr7:102081200-102085800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:102081200-102086000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:102081200-102086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:102081200-102086800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:102081200-102087600	Weak transcription	Right Ventricle	heart
40	chr7:102081200-102091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:102081200-102091800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:102081200-102091800	Weak transcription	HMEC	breast
43	chr7:102081200-102091800	Weak transcription	NHDF-Ad	bronchial
44	chr7:102081200-102092000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:102081200-102092000	Weak transcription	HSMM	muscle
46	chr7:102081200-102095600	Weak transcription	Brain Substantia Nigra	brain
47	chr7:102081200-102096200	Weak transcription	Left Ventricle	heart
48	chr7:102081200-102098000	Weak transcription	Small Intestine	intestine
49	chr7:102081200-102104200	Weak transcription	Right Atrium	heart
50	chr7:102081400-102086800	Weak transcription	A549	lung

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