Variant report

Variant	esv1816731
Chromosome Location	chr10:1352152-1372501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1352757..1355189-chr10:1359156..1361413,2	K562	blood:
2	chr10:1352757..1355189-chr10:1359156..1361413,2	K562	blood:
3	chr10:1351861..1353649-chr10:1354593..1356830,2	MCF-7	breast:
4	chr10:1369971..1371504-chr10:1375376..1377505,2	MCF-7	breast:
5	chr10:1206544..1208143-chr10:1358833..1361339,2	K562	blood:
6	chr10:1351861..1353649-chr10:1354593..1356830,2	MCF-7	breast:
7	chr10:1367350..1368940-chr10:1404924..1406543,2	MCF-7	breast:
8	chr10:1294262..1296961-chr10:1359732..1362708,2	K562	blood:

Extended variants
information (count: 1041 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17156189	chr10:1352152-1352153	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4880496	chr10:1352211-1352212	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141390324	chr10:1352212-1352213	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74118223	chr10:1352228-1352229	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542632363	chr10:1352289-1352290	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145153730	chr10:1352297-1352298	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146892705	chr10:1352298-1352299	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562377332	chr10:1352337-1352338	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576000797	chr10:1352339-1352340	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140230365	chr10:1352348-1352349	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559632689	chr10:1352357-1352358	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186733955	chr10:1352376-1352377	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116509894	chr10:1352384-1352385	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117160879	chr10:1352414-1352415	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547228797	chr10:1352466-1352467	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541550877	chr10:1352484-1352485	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564035225	chr10:1352502-1352503	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192252192	chr10:1352539-1352540	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377248785	chr10:1352540-1352541	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184159483	chr10:1352552-1352553	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2892331	chr10:1352571-1352572	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538241984	chr10:1352575-1352576	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs375020893	chr10:1352590-1352591	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533158437	chr10:1352605-1352606	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548355134	chr10:1352659-1352660	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143450887	chr10:1352678-1352679	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368424836	chr10:1352690-1352691	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376772730	chr10:1352696-1352697	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188762326	chr10:1352706-1352707	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113187819	chr10:1352735-1352736	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577595376	chr10:1352748-1352749	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369759842	chr10:1352781-1352782	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567228013	chr10:1352818-1352819	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540102422	chr10:1352842-1352843	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556834318	chr10:1352849-1352850	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372535301	chr10:1352865-1352866	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193194580	chr10:1352916-1352917	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111769463	chr10:1352922-1352923	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571854899	chr10:1352940-1352941	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74655315	chr10:1352941-1352942	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563905792	chr10:1352946-1352947	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532983641	chr10:1352947-1352948	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549762529	chr10:1352971-1352972	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs117379076	chr10:1352975-1352976	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147995366	chr10:1352982-1352983	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563993810	chr10:1353014-1353015	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548613252	chr10:1353016-1353017	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546246006	chr10:1353060-1353061	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568546448	chr10:1353071-1353072	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188873640	chr10:1353078-1353079	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1329200-1352600	Weak transcription	Right Atrium	heart
2	chr10:1340200-1352800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:1350400-1354000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1350400-1354400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr10:1350400-1354400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:1350600-1352200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr10:1350600-1362200	Weak transcription	Aorta	Aorta
8	chr10:1350800-1352200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:1350800-1352200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:1350800-1352200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:1351200-1354000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:1351400-1352400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:1351400-1354400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:1351600-1352400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr10:1351800-1352200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:1351800-1353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr10:1351800-1353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:1351800-1354000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:1352000-1352400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:1352000-1353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:1352000-1353200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr10:1352000-1353200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:1352200-1352400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr10:1352200-1352400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr10:1352200-1352400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr10:1352200-1353000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:1352200-1353200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr10:1352400-1352800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr10:1352400-1352800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:1352400-1352800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr10:1352400-1352800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr10:1352400-1353000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr10:1352800-1353000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr10:1352800-1353000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:1352800-1353000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr10:1352800-1353000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr10:1352800-1353000	Enhancers	Right Atrium	heart
38	chr10:1352800-1353400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr10:1353000-1353200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr10:1353000-1354200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr10:1353000-1354200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr10:1353000-1354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:1353000-1358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:1353200-1353600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr10:1353200-1354000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:1353200-1354200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr10:1353200-1354600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr10:1353200-1355400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:1353200-1355800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:1353400-1354600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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