Variant report

Variant	esv3385935
Chromosome Location	chr7:140462621-140464904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13222801	chr7:140462636-140462637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538128539	chr7:140462646-140462647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556150010	chr7:140462651-140462652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574706551	chr7:140462688-140462689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367929440	chr7:140462709-140462710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370939523	chr7:140462748-140462749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541999154	chr7:140462789-140462790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375632516	chr7:140462804-140462805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199687092	chr7:140462805-140462806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560654611	chr7:140462822-140462823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572560699	chr7:140462833-140462834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545923101	chr7:140462870-140462871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564481844	chr7:140462903-140462904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368560017	chr7:140462936-140462937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550462135	chr7:140462947-140462948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562014403	chr7:140462949-140462950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529457832	chr7:140462967-140462968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186820468	chr7:140462995-140462996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547577898	chr7:140462996-140462997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566280235	chr7:140463009-140463010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527365658	chr7:140463010-140463011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190158428	chr7:140463015-140463016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551921779	chr7:140463027-140463028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs372585945	chr7:140463031-140463032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570444009	chr7:140463042-140463043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537414787	chr7:140463049-140463050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556425489	chr7:140463058-140463059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531269080	chr7:140463059-140463060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376643303	chr7:140463062-140463063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535686451	chr7:140463063-140463064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554005532	chr7:140463080-140463081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572598943	chr7:140463084-140463085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546261030	chr7:140463091-140463092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557935101	chr7:140463126-140463127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs367592628	chr7:140463157-140463158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543415172	chr7:140463161-140463162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562088019	chr7:140463163-140463164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529542956	chr7:140463207-140463208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541257225	chr7:140463212-140463213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559506560	chr7:140463226-140463227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533330814	chr7:140463256-140463257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182397351	chr7:140463257-140463258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570404962	chr7:140463273-140463274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371753598	chr7:140463284-140463285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375349611	chr7:140463294-140463295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62487911	chr7:140463297-140463298	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs111947383	chr7:140463308-140463309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554042448	chr7:140463314-140463315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547753938	chr7:140463383-140463384	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113891401	chr7:140463389-140463390	Weak transcription ZNF genes & repeats	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398000-140466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
4	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
5	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
6	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
9	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
12	chr7:140407000-140466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:140415200-140466400	Weak transcription	Aorta	Aorta
16	chr7:140415200-140472000	Weak transcription	Lung	lung
17	chr7:140415200-140506600	Weak transcription	Gastric	stomach
18	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
19	chr7:140424200-140468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:140425400-140468400	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:140426200-140467200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
25	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
26	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus
27	chr7:140436800-140468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:140438200-140466800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:140438400-140482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:140439600-140474800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:140440000-140468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:140440000-140469600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:140440000-140472000	Weak transcription	Brain Anterior Caudate	brain
34	chr7:140440400-140476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:140440600-140466400	Weak transcription	Thymus	Thymus
36	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:140441000-140466800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:140441400-140504000	Weak transcription	NHLF	lung
39	chr7:140444200-140485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:140444400-140466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:140445600-140466600	Weak transcription	Spleen	Spleen
42	chr7:140446000-140467000	Weak transcription	HSMMtube	muscle
43	chr7:140446000-140472800	Weak transcription	Fetal Heart	heart
44	chr7:140446200-140474800	Weak transcription	HSMM	muscle
45	chr7:140447200-140467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:140448000-140473400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:140449200-140466800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:140449200-140474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:140449400-140468800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:140449800-140466400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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