Variant report

Variant	esv3477143
Chromosome Location	chr7:21813667-21814225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21813998..21816432-chr7:21818719..21821037,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183648319	chr7:21813690-21813691	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs72657377	chr7:21813705-21813706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537728777	chr7:21813772-21813773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs10263207	chr7:21813779-21813780	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571103355	chr7:21813791-21813792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs533787366	chr7:21813796-21813797	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs111882364	chr7:21813819-21813820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144611022	chr7:21813831-21813832	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542975327	chr7:21813844-21813845	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376399914	chr7:21813856-21813857	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192116893	chr7:21813881-21813882	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76967247	chr7:21813883-21813884	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140404729	chr7:21813925-21813926	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150370675	chr7:21813928-21813929	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182793109	chr7:21813937-21813938	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527884130	chr7:21813947-21813948	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374760787	chr7:21813989-21813990	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs117211839	chr7:21814010-21814011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs562304245	chr7:21814015-21814016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs117619415	chr7:21814026-21814027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs114590638	chr7:21814045-21814046	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs568745184	chr7:21814053-21814054	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs76484013	chr7:21814083-21814084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2269827	chr7:21814099-21814100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143624303	chr7:21814116-21814117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs74777508	chr7:21814160-21814161	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs113335728	chr7:21814170-21814171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs553701834	chr7:21814212-21814213	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21805600-21813800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:21805600-21813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:21810000-21814000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:21810000-21814600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:21810800-21814000	Enhancers	Brain Angular Gyrus	brain
6	chr7:21811200-21813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:21811400-21813800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:21811600-21814200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:21811800-21814000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:21812000-21814000	Enhancers	Brain Hippocampus Middle	brain
11	chr7:21812000-21814200	Enhancers	Brain Anterior Caudate	brain
12	chr7:21812000-21814200	Enhancers	Brain Substantia Nigra	brain
13	chr7:21812000-21814400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:21812400-21813800	Enhancers	Brain Germinal Matrix	brain
15	chr7:21812400-21814000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:21812600-21817400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:21812800-21813800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:21812800-21813800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:21812800-21813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:21812800-21814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:21813200-21814200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:21813200-21815400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:21813200-21818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:21813400-21814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:21813600-21813800	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:21813600-21814200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr7:21813600-21814800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:21813800-21814000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:21813800-21814000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr7:21813800-21814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:21813800-21814400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:21813800-21814400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:21813800-21814600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:21813800-21815600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:21814000-21814200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr7:21814000-21814200	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:21814000-21814400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:21814000-21815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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