Variant report

Variant	esv3516239
Chromosome Location	chr10:99107769-99110444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99095422..99098240-chr10:99107284..99109589,2	MCF-7	breast:
2	chr10:99110356..99112146-chr10:99158578..99161292,2	K562	blood:
3	chr10:99109959..99112928-chr10:99114627..99116420,2	K562	blood:
4	chr10:99095023..99098677-chr10:99109833..99114591,4	MCF-7	breast:
5	chr10:99102535..99104464-chr10:99107918..99109887,2	K562	blood:

Variant related genes	Relation type
ENSG00000231970	chromatin interactions
ENSG00000052749	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528131022	chr10:99107780-99107781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546686266	chr10:99107782-99107783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571297809	chr10:99107785-99107786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538633034	chr10:99107811-99107812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557022179	chr10:99107860-99107861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201410911	chr10:99107882-99107883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569155661	chr10:99107887-99107888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143031814	chr10:99107947-99107948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374082575	chr10:99108016-99108017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs17112651	chr10:99108038-99108039	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs57788610	chr10:99108057-99108058	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549061092	chr10:99108068-99108069	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181728004	chr10:99108123-99108124	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12571288	chr10:99108146-99108147	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs12253089	chr10:99108187-99108188	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558999111	chr10:99108208-99108209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576953715	chr10:99108230-99108231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187156714	chr10:99108233-99108234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562558498	chr10:99108280-99108281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199726991	chr10:99108291-99108292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548105255	chr10:99108304-99108305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111261249	chr10:99108307-99108308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4919097	chr10:99108317-99108318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530301960	chr10:99108367-99108368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572745559	chr10:99108372-99108373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11189152	chr10:99108426-99108427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568564604	chr10:99108431-99108432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375201883	chr10:99108497-99108498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542123116	chr10:99108554-99108555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371461706	chr10:99108608-99108609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560442335	chr10:99108642-99108643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527950192	chr10:99108672-99108673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374692879	chr10:99108709-99108710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553642958	chr10:99108710-99108711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548102426	chr10:99108719-99108720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552540277	chr10:99108726-99108727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113181273	chr10:99108802-99108803	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11189153	chr10:99108804-99108805	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539822621	chr10:99108860-99108861	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556632177	chr10:99108861-99108862	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17557994	chr10:99108863-99108864	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535578817	chr10:99108878-99108879	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1253305	chr10:99108888-99108889	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370921504	chr10:99108916-99108917	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556036427	chr10:99108917-99108918	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536503059	chr10:99108921-99108922	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11189154	chr10:99108922-99108923	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs1253306	chr10:99108925-99108926	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1253307	chr10:99108932-99108933	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1253308	chr10:99108941-99108942	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99095200-99109400	Weak transcription	HSMMtube	muscle
2	chr10:99095200-99115200	Weak transcription	Gastric	stomach
3	chr10:99095400-99109400	Weak transcription	Liver	Liver
4	chr10:99095400-99115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:99095400-99115600	Weak transcription	Left Ventricle	heart
6	chr10:99095400-99115600	Weak transcription	Right Ventricle	heart
7	chr10:99097400-99109600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:99097400-99115200	Weak transcription	A549	lung
9	chr10:99097400-99116000	Weak transcription	Hela-S3	cervix
10	chr10:99097600-99109400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr10:99097600-99109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:99097600-99109600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:99097600-99115200	Weak transcription	NHEK	skin
14	chr10:99097600-99115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:99098200-99108800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:99098200-99116200	Weak transcription	Brain Angular Gyrus	brain
17	chr10:99098400-99109200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:99098400-99109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:99098400-99115200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:99098600-99114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:99098600-99115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:99099200-99109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:99099400-99113600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:99099400-99115600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:99101800-99114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:99102400-99115400	Weak transcription	Pancreas	Pancrea
27	chr10:99103000-99116000	Weak transcription	Brain Germinal Matrix	brain
28	chr10:99103400-99109400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:99104200-99109400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:99104400-99109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:99104400-99109800	Weak transcription	Primary B cells from cord blood	blood
32	chr10:99105400-99109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:99105600-99109400	Weak transcription	NH-A	brain
34	chr10:99105600-99113800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:99106400-99109600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:99106400-99111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:99106600-99108200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr10:99106600-99108600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:99106600-99109200	Weak transcription	Fetal Muscle Leg	muscle
40	chr10:99106600-99109200	Weak transcription	NHLF	lung
41	chr10:99106600-99109600	Weak transcription	HSMM	muscle
42	chr10:99106600-99113400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:99106800-99116400	Weak transcription	Aorta	Aorta
44	chr10:99107000-99108200	Enhancers	K562	blood
45	chr10:99107000-99110800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:99107000-99115400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:99107000-99131800	Weak transcription	Fetal Kidney	kidney
48	chr10:99107200-99109000	Weak transcription	Placenta	Placenta
49	chr10:99107200-99109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:99107200-99109600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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