Variant report

Variant	esv3358576
Chromosome Location	chr7:68923091-68925539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569365750	chr7:68923102-68923103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576213922	chr7:68923124-68923125	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538394180	chr7:68923186-68923187	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146361379	chr7:68923255-68923256	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370834591	chr7:68923267-68923268	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373428493	chr7:68923276-68923277	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147888769	chr7:68923313-68923314	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546278935	chr7:68923322-68923323	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541074801	chr7:68923337-68923338	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564456836	chr7:68923389-68923390	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551747626	chr7:68923416-68923417	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193298816	chr7:68923421-68923422	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550015209	chr7:68923422-68923423	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113696721	chr7:68923481-68923482	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535306408	chr7:68923486-68923487	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549144112	chr7:68923487-68923488	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565769151	chr7:68923505-68923506	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184817656	chr7:68923514-68923515	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188412153	chr7:68923525-68923526	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551114418	chr7:68923560-68923561	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180712386	chr7:68923690-68923691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561661195	chr7:68923832-68923833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13231885	chr7:68923834-68923835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200790235	chr7:68923835-68923836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189677618	chr7:68923836-68923837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556418675	chr7:68923855-68923856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371827539	chr7:68923872-68923873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200415704	chr7:68923873-68923874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537592775	chr7:68923875-68923876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372832989	chr7:68923893-68923894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201403360	chr7:68923895-68923896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200023919	chr7:68923905-68923906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35799104	chr7:68923906-68923907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201335212	chr7:68923921-68923922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576276740	chr7:68923925-68923926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535645191	chr7:68923943-68923944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373949816	chr7:68923945-68923946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181765689	chr7:68923972-68923973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562632598	chr7:68923973-68923974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376006236	chr7:68923985-68923986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370051252	chr7:68923992-68923993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371482850	chr7:68923994-68923995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577405340	chr7:68923996-68923997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546351985	chr7:68924006-68924007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375839696	chr7:68924012-68924013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369343128	chr7:68924022-68924023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111271837	chr7:68924024-68924025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573126658	chr7:68924034-68924035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542222801	chr7:68924040-68924041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560984506	chr7:68924043-68924044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19404257	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	22102821	CNVD
Glioma	20126413	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:68914000-68925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:68922200-68923800	Enhancers	Fetal Muscle Leg	muscle
3	chr7:68922400-68923400	Enhancers	Pancreas	Pancrea
4	chr7:68922400-68923600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:68922400-68923600	Enhancers	Adipose Nuclei	Adipose
6	chr7:68922400-68923600	Enhancers	Left Ventricle	heart
7	chr7:68922400-68923800	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:68922600-68923200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:68922600-68923400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:68922600-68923400	Enhancers	Liver	Liver
11	chr7:68922600-68923400	Enhancers	Colon Smooth Muscle	Colon
12	chr7:68922600-68923400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr7:68922600-68923400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:68922600-68923400	Enhancers	Fetal Lung	lung
15	chr7:68922600-68923600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:68922600-68923600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:68922600-68923600	Enhancers	Fetal Heart	heart
18	chr7:68922600-68923600	Enhancers	NH-A	brain
19	chr7:68922600-68923800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:68922800-68923200	Enhancers	Brain Substantia Nigra	brain
21	chr7:68922800-68923400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:68922800-68923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:68922800-68923400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:68922800-68923400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:68922800-68923400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:68922800-68923400	Enhancers	Brain Hippocampus Middle	brain
27	chr7:68922800-68923400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:68922800-68923600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:68922800-68923600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:68922800-68923600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:68922800-68923600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:68922800-68923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:68922800-68923600	Enhancers	Brain Germinal Matrix	brain
34	chr7:68922800-68923600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:68922800-68923600	Enhancers	Fetal Intestine Small	intestine
36	chr7:68922800-68923600	Enhancers	Fetal Stomach	stomach
37	chr7:68923000-68923200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:68923000-68923200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:68923000-68923200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:68923000-68923200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:68923000-68923200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:68923000-68923400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:68923000-68923400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:68923000-68923400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:68923000-68923400	Enhancers	Brain Angular Gyrus	brain
46	chr7:68923000-68923400	Enhancers	Brain Anterior Caudate	brain
47	chr7:68923000-68923400	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:68923000-68923400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:68923000-68923400	Enhancers	Right Ventricle	heart
50	chr7:68923000-68923400	Enhancers	A549	lung

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