Variant report

Variant	esv3354555
Chromosome Location	chr10:522377-524925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs115429440	chr10:522388-522389	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72774517	chr10:522405-522406	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1539229	chr10:522414-522415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569598389	chr10:522416-522417	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116545931	chr10:522419-522420	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549605306	chr10:522447-522448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1539230	chr10:522487-522488	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12762333	chr10:522488-522489	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528983115	chr10:522494-522495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72774519	chr10:522500-522501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139755548	chr10:522503-522504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373956703	chr10:522504-522505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527805523	chr10:522514-522515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557198432	chr10:522522-522523	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573933551	chr10:522523-522524	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542666920	chr10:522531-522532	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552990492	chr10:522538-522539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116374083	chr10:522539-522540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528612536	chr10:522550-522551	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74744293	chr10:522558-522559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192049454	chr10:522571-522572	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532996792	chr10:522576-522577	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543475584	chr10:522601-522602	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144454752	chr10:522645-522646	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200956513	chr10:522660-522661	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548988537	chr10:522672-522673	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150668673	chr10:522680-522681	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528781923	chr10:522686-522687	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61839502	chr10:522702-522703	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139855661	chr10:522723-522724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537252235	chr10:522726-522727	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557387092	chr10:522751-522752	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567646261	chr10:522755-522756	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72774520	chr10:522756-522757	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552927133	chr10:522786-522787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77931202	chr10:522791-522792	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186836652	chr10:522802-522803	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114795015	chr10:522876-522877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577718350	chr10:522896-522897	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78669616	chr10:522911-522912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563536926	chr10:522917-522918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149806668	chr10:522945-522946	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201469880	chr10:522963-522964	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397943517	chr10:522966-522967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542769702	chr10:522968-522969	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559360803	chr10:523014-523015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78411391	chr10:523042-523043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552058435	chr10:523065-523066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565450567	chr10:523083-523084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531277583	chr10:523105-523106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Obesity	19966786	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:497800-530400	Weak transcription	Stomach Mucosa	stomach
2	chr10:501200-529200	Weak transcription	NHDF-Ad	bronchial
3	chr10:501400-530200	Weak transcription	A549	lung
4	chr10:504600-526400	Weak transcription	Right Atrium	heart
5	chr10:505200-526600	Weak transcription	Fetal Heart	heart
6	chr10:506000-524200	Weak transcription	HSMM	muscle
7	chr10:513000-531400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:513600-522600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:513600-522600	Strong transcription	Fetal Intestine Small	intestine
10	chr10:514200-522600	Strong transcription	Fetal Stomach	stomach
11	chr10:514400-524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:514600-530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:515200-522600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:515400-530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:516400-526600	Weak transcription	Fetal Brain Male	brain
16	chr10:517000-524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:517000-528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:517000-530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:517000-530400	Weak transcription	NH-A	brain
20	chr10:517000-530600	Weak transcription	Fetal Lung	lung
21	chr10:517000-536800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:517200-526800	Weak transcription	Psoas Muscle	Psoas
23	chr10:517200-530000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:517200-530400	Weak transcription	Colonic Mucosa	Colon
25	chr10:517200-531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:517400-524400	Weak transcription	Lung	lung
27	chr10:517400-525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:517400-526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:517400-526800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:517400-529000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:517400-530400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:517400-530600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:517600-524800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:517600-526400	Weak transcription	Brain Substantia Nigra	brain
35	chr10:517600-530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:517600-530400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:517800-530200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:517800-530400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:517800-530400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:518000-524600	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:518000-527000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:518200-529800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:518400-522400	Weak transcription	Ovary	ovary
44	chr10:518400-524600	Weak transcription	Left Ventricle	heart
45	chr10:518400-524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:518600-524600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:518600-526800	Weak transcription	Gastric	stomach
48	chr10:518600-527000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:518600-530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:518800-524600	Weak transcription	Right Ventricle	heart

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