Variant report

Variant	esv33149
Chromosome Location	chr10:93203538-93211658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182930995	chr10:93203573-93203574	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148802398	chr10:93203589-93203590	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551695882	chr10:93203620-93203621	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564880985	chr10:93203626-93203627	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142437208	chr10:93203733-93203734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553235813	chr10:93203744-93203745	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573424552	chr10:93203756-93203757	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74149215	chr10:93203814-93203815	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555429377	chr10:93203817-93203818	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575605738	chr10:93203867-93203868	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544710188	chr10:93203924-93203925	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564620207	chr10:93203928-93203929	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372302158	chr10:93203941-93203942	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530211207	chr10:93203943-93203944	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118182931	chr10:93203980-93203981	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74364545	chr10:93203989-93203990	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528344452	chr10:93204081-93204082	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542109235	chr10:93204095-93204096	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561483407	chr10:93204107-93204108	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530463564	chr10:93204161-93204162	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55907162	chr10:93204192-93204193	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550257987	chr10:93204244-93204245	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12257543	chr10:93204286-93204287	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369899157	chr10:93204326-93204327	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546851412	chr10:93204399-93204400	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9943307	chr10:93204436-93204437	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78910834	chr10:93204445-93204446	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374501352	chr10:93204447-93204448	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150889664	chr10:93204455-93204456	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575891851	chr10:93204510-93204511	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs35926209	chr10:93204513-93204514	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs57998663	chr10:93204516-93204517	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569274895	chr10:93204580-93204581	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187238172	chr10:93204616-93204617	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs139358344	chr10:93204645-93204646	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145162657	chr10:93204646-93204647	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs377574287	chr10:93204677-93204678	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546815405	chr10:93204702-93204703	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540750755	chr10:93204786-93204787	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552843641	chr10:93204869-93204870	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573001855	chr10:93204880-93204881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541748151	chr10:93204881-93204882	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562062427	chr10:93204944-93204945	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530403423	chr10:93204976-93204977	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79400986	chr10:93204977-93204978	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563760821	chr10:93204979-93204980	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532818159	chr10:93205024-93205025	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142029829	chr10:93205187-93205188	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566945233	chr10:93205209-93205210	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529540428	chr10:93205220-93205221	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93170800-93204600	Weak transcription	Gastric	stomach
2	chr10:93175000-93204200	Weak transcription	Fetal Brain Male	brain
3	chr10:93175000-93205400	Weak transcription	Aorta	Aorta
4	chr10:93175000-93208800	Weak transcription	Adipose Nuclei	Adipose
5	chr10:93176600-93204000	Weak transcription	Brain Anterior Caudate	brain
6	chr10:93176600-93205400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:93176600-93212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:93176800-93203600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:93182200-93207200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:93184000-93203800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:93184000-93205000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:93184400-93226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:93185000-93208800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:93186000-93226800	Weak transcription	Pancreas	Pancrea
15	chr10:93186600-93205600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:93190600-93204200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:93192000-93206600	Weak transcription	Primary B cells from cord blood	blood
18	chr10:93193400-93205000	Weak transcription	Fetal Stomach	stomach
19	chr10:93193600-93204600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:93193600-93205600	Weak transcription	Liver	Liver
21	chr10:93193800-93204800	Weak transcription	Right Ventricle	heart
22	chr10:93194400-93204600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:93194400-93204600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:93194400-93205600	Weak transcription	NH-A	brain
25	chr10:93194600-93204200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:93194600-93213800	Weak transcription	HUVEC	blood vessel
27	chr10:93195200-93206400	Weak transcription	HSMM	muscle
28	chr10:93195400-93204800	Weak transcription	Left Ventricle	heart
29	chr10:93195400-93207600	Weak transcription	Esophagus	oesophagus
30	chr10:93195400-93207600	Weak transcription	Fetal Intestine Large	intestine
31	chr10:93195600-93205000	Weak transcription	Psoas Muscle	Psoas
32	chr10:93195600-93205400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:93195600-93205400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:93195600-93208200	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:93195600-93213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:93196000-93220600	Weak transcription	Hela-S3	cervix
37	chr10:93196200-93204200	Weak transcription	Fetal Kidney	kidney
38	chr10:93198200-93204200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:93198200-93204600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:93198200-93205400	Weak transcription	Ovary	ovary
41	chr10:93198400-93203800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:93198400-93208400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:93201800-93203800	Weak transcription	Brain Germinal Matrix	brain
44	chr10:93202600-93205200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:93203000-93205400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:93203200-93203600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr10:93203200-93203600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:93203200-93203600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:93203200-93203600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:93203200-93203600	ZNF genes & repeats	Fetal Intestine Small	intestine

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