Variant report

Variant	esv3355245
Chromosome Location	chr10:366777-369825
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	chr10:368780..371728-chr10:384825..386792,2	MCF-7	breast:

Extended variants
information (count: 226 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375476887	chr10:366778-366779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190103561	chr10:366805-366806	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181486156	chr10:366820-366821	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185573699	chr10:366828-366829	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568497648	chr10:366837-366838	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534279120	chr10:366868-366869	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373351354	chr10:366875-366876	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544792500	chr10:366890-366891	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79013128	chr10:366897-366898	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139323932	chr10:366953-366954	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386370423	chr10:366955-366956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35313559	chr10:366960-366961	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75902563	chr10:366961-366962	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566674101	chr10:366966-366967	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190083649	chr10:366999-367000	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538943538	chr10:367000-367001	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180988551	chr10:367039-367040	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558341634	chr10:367048-367049	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373317208	chr10:367050-367051	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150288770	chr10:367051-367052	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3123253	chr10:367055-367056	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185915849	chr10:367061-367062	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3125040	chr10:367119-367120	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370581714	chr10:367140-367141	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548946320	chr10:367144-367145	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138347217	chr10:367150-367151	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3132013	chr10:367154-367155	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149634319	chr10:367183-367184	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144361239	chr10:367189-367190	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562885950	chr10:367215-367216	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191981078	chr10:367223-367224	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76252315	chr10:367258-367259	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568464164	chr10:367264-367265	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75700814	chr10:367277-367278	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547880200	chr10:367281-367282	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570853783	chr10:367282-367283	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183949006	chr10:367283-367284	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538876256	chr10:367328-367329	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs68166673	chr10:367355-367356	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138956280	chr10:367361-367362	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188448698	chr10:367396-367397	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538158100	chr10:367406-367407	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554531169	chr10:367416-367417	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574381228	chr10:367422-367423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568947117	chr10:367429-367430	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553882365	chr10:367435-367436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576524720	chr10:367441-367442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546023123	chr10:367470-367471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11334283	chr10:367471-367472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200475051	chr10:367476-367477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
2	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:344200-369400	Weak transcription	A549	lung
5	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:346000-367400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:349200-379400	Weak transcription	Thymus	Thymus
8	chr10:351400-367600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:353200-375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:353200-375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:353400-367000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:354000-369800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:354000-372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:354400-369800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:355000-366800	Weak transcription	Colonic Mucosa	Colon
16	chr10:355000-375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:355200-372200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:356000-367200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:356600-370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:359400-367400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:360200-367400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:360400-367400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:360600-367400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:361600-369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:361600-372200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:361800-369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:361800-372200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:362600-367400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:363000-367400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:363000-367400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:363200-367400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr10:363600-367200	Strong transcription	Brain Germinal Matrix	brain
34	chr10:363800-369000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr10:363800-382800	Weak transcription	Fetal Brain Male	brain
36	chr10:364000-369400	Weak transcription	NH-A	brain
37	chr10:364000-371000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:364200-369600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:364200-369600	Weak transcription	Right Ventricle	heart
40	chr10:364200-372200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:364400-366800	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:364400-367600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr10:364400-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:364400-369800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:364600-366800	Weak transcription	Brain Angular Gyrus	brain
46	chr10:364600-366800	Weak transcription	Ovary	ovary
47	chr10:364600-366800	Weak transcription	HSMM	muscle
48	chr10:364600-367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:364600-367200	Weak transcription	Lung	lung
50	chr10:364600-369400	Weak transcription	Muscle Satellite Cultured Cells	--

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