Variant report

Variant	esv32889
Chromosome Location	chr10:818451-834608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:657394..659426-chr10:833405..835908,2	MCF-7	breast:
2	chr10:826973..829590-chr10:832494..835604,4	K562	blood:
3	chr10:817104..818718-chr10:820025..821722,2	MCF-7	breast:
4	chr10:632878..635792-chr10:829676..832349,2	MCF-7	breast:
5	chr10:819060..821540-chr10:825309..827354,2	MCF-7	breast:
6	chr10:823329..824026-chr16:78285555..78286055,2	MCF-7	breast:
7	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:
8	chr10:733970..741093-chr10:828125..835309,12	MCF-7	breast:
9	chr10:735855..737615-chr10:818949..821134,2	MCF-7	breast:
10	chr10:778218..778962-chr10:824579..825446,5	MCF-7	breast:
11	chr10:826973..829121-chr10:832494..834058,2	K562	blood:
12	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:
13	chr10:833990..835898-chr10:1099433..1102164,2	K562	blood:
14	chr10:819060..821540-chr10:825309..827354,2	MCF-7	breast:
15	chr10:734426..737338-chr10:832688..834504,2	MCF-7	breast:
16	chr10:733976..736630-chr10:829821..832143,2	MCF-7	breast:
17	chr10:778218..778758-chr10:824666..825446,2	MCF-7	breast:
18	chr10:735583..738437-chr10:825634..828452,2	MCF-7	breast:
19	chr10:698785..701781-chr10:833421..835495,2	MCF-7	breast:
20	chr10:739318..742202-chr10:834057..836421,2	MCF-7	breast:
21	chr10:634195..634721-chr10:829974..830911,3	MCF-7	breast:
22	chr10:817104..818718-chr10:820025..821722,2	MCF-7	breast:
23	chr10:831933..833433-chr10:65279794..65281725,2	MCF-7	breast:
24	chr10:826973..829590-chr10:832494..835604,4	K562	blood:
25	chr10:826973..829121-chr10:832494..834058,2	K562	blood:
26	chr10:550299..552878-chr10:830515..832425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151240	chromatin interactions
ENSG00000165476	chromatin interactions

Extended variants
information (count: 990 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550095842	chr10:818521-818522	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs558168168	chr10:818529-818530	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112928674	chr10:818530-818531	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535564804	chr10:818531-818532	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369682598	chr10:818533-818534	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555749406	chr10:818548-818549	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117317190	chr10:818559-818560	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79360918	chr10:818568-818569	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554068549	chr10:818573-818574	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35181487	chr10:818586-818587	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577201321	chr10:818587-818588	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543822817	chr10:818606-818607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112378741	chr10:818615-818616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556062086	chr10:818635-818636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111395082	chr10:818645-818646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541524198	chr10:818713-818714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561367451	chr10:818752-818753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527237987	chr10:818780-818781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541333220	chr10:818787-818788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374515255	chr10:818805-818806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200382817	chr10:818845-818846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7069728	chr10:818851-818852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs533426872	chr10:818862-818863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550386391	chr10:818884-818885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570118868	chr10:818890-818891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529413587	chr10:818909-818910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549163465	chr10:818937-818938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573889393	chr10:818943-818944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535059893	chr10:818951-818952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558180603	chr10:818969-818970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570788011	chr10:819007-819008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539337277	chr10:819051-819052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11340201	chr10:819058-819059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577711775	chr10:819147-819148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542405994	chr10:819148-819149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576128204	chr10:819149-819150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373011457	chr10:819194-819195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559171059	chr10:819196-819197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11595057	chr10:819203-819204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370636339	chr10:819217-819218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563725863	chr10:819223-819224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533697024	chr10:819255-819256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543731979	chr10:819289-819290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10904563	chr10:819308-819309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529427725	chr10:819313-819314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549590486	chr10:819340-819341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377327472	chr10:819420-819421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375629857	chr10:819423-819424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528573937	chr10:819458-819459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10904564	chr10:819459-819460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:817400-820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:817400-821800	Weak transcription	Spleen	Spleen
3	chr10:818000-818600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:818200-818600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:818400-830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:818600-821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:818600-821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:818800-819600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:819400-819800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:820800-821000	Enhancers	Fetal Brain Male	brain
11	chr10:820800-821200	Enhancers	Stomach Smooth Muscle	stomach
12	chr10:820800-822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:821000-821200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:821000-821200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr10:821000-821200	Bivalent Enhancer	Osteobl	bone
16	chr10:821000-821400	Enhancers	Colon Smooth Muscle	Colon
17	chr10:821000-821800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:821000-821800	Enhancers	A549	lung
19	chr10:821000-822000	Enhancers	Esophagus	oesophagus
20	chr10:821200-821400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:821200-821600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:821200-821600	Flanking Active TSS	Osteobl	bone
23	chr10:821200-821800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:821200-821800	Active TSS	Rectal Smooth Muscle	rectum
25	chr10:821200-821800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr10:821200-821800	Enhancers	HSMMtube	muscle
27	chr10:821200-822000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:821200-822000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:821200-822000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr10:821200-822000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:821200-822000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr10:821200-822000	Enhancers	NH-A	brain
33	chr10:821400-821600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:821400-821600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:821400-821800	Enhancers	Hela-S3	cervix
36	chr10:821400-821800	Enhancers	HMEC	breast
37	chr10:821400-822000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:821400-822000	Enhancers	HUVEC	blood vessel
39	chr10:821400-824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:821600-821800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:821600-821800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:821600-821800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:821600-821800	Enhancers	Fetal Brain Male	brain
44	chr10:821600-822000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr10:821600-822000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:821600-822000	Enhancers	Osteobl	bone
47	chr10:821800-822000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:821800-822000	Enhancers	Rectal Smooth Muscle	rectum
49	chr10:821800-822000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr10:821800-822000	Enhancers	Spleen	Spleen

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