Variant report

Variant	esv3476868
Chromosome Location	chr7:140608441-140608919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140606906..140609520-chr7:140613515..140616264,2	K562	blood:
2	chr7:140605056..140607360-chr7:140608917..140611801,3	K562	blood:
3	chr7:140588302..140590134-chr7:140608160..140610912,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10255711	chr7:140608476-140608477	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560789041	chr7:140608479-140608480	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190637417	chr7:140608532-140608533	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182934274	chr7:140608533-140608534	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546223908	chr7:140608566-140608567	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371179923	chr7:140608580-140608581	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143986165	chr7:140608589-140608590	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368455997	chr7:140608590-140608591	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372116923	chr7:140608591-140608592	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369060452	chr7:140608610-140608611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564085518	chr7:140608635-140608636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539085681	chr7:140608644-140608645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551013397	chr7:140608649-140608650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569256386	chr7:140608665-140608666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533330885	chr7:140608684-140608685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140525743	chr7:140608693-140608694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573432384	chr7:140608730-140608731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551961067	chr7:140608747-140608748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559067899	chr7:140608762-140608763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577681187	chr7:140608784-140608785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374951246	chr7:140608789-140608790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200033429	chr7:140608792-140608793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200877290	chr7:140608793-140608794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76603725	chr7:140608794-140608795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574884464	chr7:140608795-140608796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187796781	chr7:140608917-140608918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140586000-140611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:140589800-140612000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:140593800-140623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:140594000-140610400	Weak transcription	Right Atrium	heart
5	chr7:140594000-140617200	Weak transcription	Lung	lung
6	chr7:140595800-140622400	Weak transcription	Aorta	Aorta
7	chr7:140597200-140623000	Weak transcription	Fetal Kidney	kidney
8	chr7:140599800-140612800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:140599800-140622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:140600000-140622000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:140600200-140612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:140600800-140610400	Weak transcription	Left Ventricle	heart
13	chr7:140600800-140610400	Weak transcription	Psoas Muscle	Psoas
14	chr7:140600800-140612000	Weak transcription	Pancreas	Pancrea
15	chr7:140600800-140622600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:140602400-140612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:140602400-140613600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:140602600-140609800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:140603200-140610400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:140603600-140610200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:140603600-140613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:140603600-140615800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:140603800-140612000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:140604000-140622000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:140604200-140611600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:140604200-140611800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:140604200-140613000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:140604200-140613000	Weak transcription	Fetal Lung	lung
29	chr7:140604200-140623000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:140604400-140611800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:140604400-140611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:140605000-140618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:140605200-140610600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:140606200-140609800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:140606200-140610400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:140606200-140618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:140607200-140621800	Weak transcription	Dnd41	blood
38	chr7:140607600-140608600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:140607800-140612600	Weak transcription	Spleen	Spleen
40	chr7:140608000-140613000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:140608200-140608600	Enhancers	Adipose Nuclei	Adipose
42	chr7:140608200-140608600	ZNF genes & repeats	K562	blood
43	chr7:140608200-140611200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:140608400-140608600	Enhancers	Colon Smooth Muscle	Colon
45	chr7:140608400-140609200	Enhancers	Ovary	ovary
46	chr7:140608400-140610200	Enhancers	Brain Hippocampus Middle	brain
47	chr7:140608400-140613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:140608600-140609600	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:140608600-140609800	Weak transcription	K562	blood
50	chr7:140608600-140618000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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