Variant report

Variant	esv3357323
Chromosome Location	chr10:1417925-1418280
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	chr10:1402501..1404466-chr10:1415279..1418172,2	K562	blood:
2	chr10:1401084..1403502-chr10:1416856..1418570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233052	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569409003	chr10:1417926-1417927	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529197717	chr10:1417927-1417928	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548868347	chr10:1417929-1417930	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74644847	chr10:1417944-1417945	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550027859	chr10:1417946-1417947	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570084791	chr10:1417955-1417956	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527699547	chr10:1417959-1417960	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547839687	chr10:1417962-1417963	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2805505	chr10:1417970-1417971	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181314284	chr10:1417972-1417973	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550436169	chr10:1417974-1417975	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377734082	chr10:1417982-1417983	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374364760	chr10:1417990-1417991	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7393135	chr10:1417991-1417992	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200487649	chr10:1417992-1417993	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs60085061	chr10:1417993-1417994	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555804793	chr10:1417997-1417998	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7393381	chr10:1418003-1418004	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7394325	chr10:1418004-1418005	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574743058	chr10:1418013-1418014	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540581811	chr10:1418015-1418016	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377297927	chr10:1418020-1418021	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367835030	chr10:1418022-1418023	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565644344	chr10:1418024-1418025	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534352174	chr10:1418026-1418027	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557819503	chr10:1418034-1418035	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186430301	chr10:1418035-1418036	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201916545	chr10:1418060-1418061	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111691616	chr10:1418078-1418079	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566073102	chr10:1418084-1418085	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543211610	chr10:1418085-1418086	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556690764	chr10:1418115-1418116	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199946759	chr10:1418131-1418132	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10903432	chr10:1418141-1418142	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10903433	chr10:1418142-1418143	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546031081	chr10:1418152-1418153	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141441041	chr10:1418158-1418159	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs60001440	chr10:1418159-1418160	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7394336	chr10:1418160-1418161	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370453245	chr10:1418162-1418163	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368350780	chr10:1418163-1418164	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28423693	chr10:1418165-1418166	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28548278	chr10:1418166-1418167	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542872949	chr10:1418169-1418170	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559409028	chr10:1418170-1418171	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527663423	chr10:1418173-1418174	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs386739834	chr10:1418176-1418177	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2805506	chr10:1418177-1418178	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140334686	chr10:1418187-1418188	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374443190	chr10:1418188-1418189	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
2	chr10:1412200-1418000	Weak transcription	Brain Substantia Nigra	brain
3	chr10:1412200-1420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:1412200-1421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:1412400-1421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:1416600-1418000	Weak transcription	Fetal Kidney	kidney
7	chr10:1417400-1418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:1417400-1421800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:1417800-1418200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:1417800-1418200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:1417800-1418200	Enhancers	Gastric	stomach
12	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:1417800-1418400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr10:1417800-1418400	ZNF genes & repeats	Pancreas	Pancrea
16	chr10:1418000-1418200	Active TSS	Brain Substantia Nigra	brain
17	chr10:1418000-1418200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr10:1418000-1418200	ZNF genes & repeats	Fetal Kidney	kidney
19	chr10:1418000-1418200	Bivalent/Poised TSS	Fetal Lung	lung
20	chr10:1418000-1418400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr10:1418200-1419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:1418200-1419600	Weak transcription	Fetal Kidney	kidney
23	chr10:1418200-1420200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:1418200-1421800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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