Variant report

Variant	esv2530664
Chromosome Location	chr10:89685139-89686634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:89685373-89685685	Hela-S3	cervix:	n/a	n/a
2	EP300	chr10:89685339-89685656	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr10:89685419-89685655	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr10:89685562-89685618	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr10:89685398-89685629	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr10:89686107-89686177	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFE2	chr10:89685477-89685504	GM12878	blood:	n/a	n/a
8	NFIC	chr10:89685190-89685873	ECC-1	luminal epithelium:	n/a	chr10:89685546-89685563 chr10:89685507-89685523 chr10:89685546-89685562
9	NFIC	chr10:89685117-89685975	ECC-1	luminal epithelium:	n/a	chr10:89685546-89685563 chr10:89685507-89685523 chr10:89685546-89685562
10	NFIC	chr10:89685274-89685861	SK-N-SH	brain:	n/a	chr10:89685546-89685563 chr10:89685507-89685523 chr10:89685546-89685562
11	POLR2A	chr10:89686109-89686201	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:89686188-89687528	GM12891	blood:	n/a	n/a
13	POLR2A	chr10:89685354-89685750	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr10:89685481-89686115	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:89686485-89686763	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:89686339-89686692	GM12891	blood:	n/a	n/a
17	RFX5	chr10:89685783-89685822	K562	blood:	n/a	n/a
18	SPI1	chr10:89686264-89686605	HL-60	blood:	n/a	n/a
19	SPI1	chr10:89686365-89686622	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:89685840..89688439-chr10:89700788..89703474,2	MCF-7	breast:
2	chr10:89683604..89685198-chr10:89700673..89703491,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPSS2-7	chr10:89685390-89685627	expReg_chr10_5653_+

Variant related genes	Relation type
PTEN	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137951061	chr10:89685170-89685171	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs180817201	chr10:89685175-89685176	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531173559	chr10:89685246-89685247	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572375431	chr10:89685263-89685264	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs121909236	chr10:89685286-89685287	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs398123316	chr10:89685287-89685288	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs398123317	chr10:89685307-89685308	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs121909226	chr10:89685314-89685315	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs398123318	chr10:89685318-89685319	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185262832	chr10:89685398-89685399	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs34855092	chr10:89685409-89685410	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs561367136	chr10:89685441-89685442	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs576458148	chr10:89685515-89685516	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs33968657	chr10:89685531-89685532	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571953259	chr10:89685535-89685536	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564700809	chr10:89685562-89685563	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs190717537	chr10:89685579-89685580	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs35585269	chr10:89685582-89685583	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2616599	chr10:89685616-89685617	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs368021776	chr10:89685622-89685623	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10490920	chr10:89685643-89685644	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2735358	chr10:89685653-89685654	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2735359	chr10:89685670-89685671	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530038373	chr10:89685680-89685681	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2673828	chr10:89685689-89685690	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547869501	chr10:89685698-89685699	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557523731	chr10:89685719-89685720	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569679881	chr10:89685720-89685721	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537095609	chr10:89685758-89685759	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574162997	chr10:89685759-89685760	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552310999	chr10:89685914-89685915	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571835060	chr10:89685939-89685940	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34311579	chr10:89685950-89685951	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138678655	chr10:89686015-89686016	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568011427	chr10:89686025-89686026	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34718995	chr10:89686048-89686049	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543061284	chr10:89686069-89686070	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183935094	chr10:89686072-89686073	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12220446	chr10:89686075-89686076	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558241894	chr10:89686081-89686082	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34382179	chr10:89686083-89686084	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576040459	chr10:89686095-89686096	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186850773	chr10:89686101-89686102	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558649012	chr10:89686132-89686133	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191481161	chr10:89686147-89686148	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3831733	chr10:89686167-89686168	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3831734	chr10:89686231-89686232	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540813499	chr10:89686238-89686239	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183793665	chr10:89686239-89686240	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139817129	chr10:89686254-89686255	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	20020426	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22065749	CNVD
Cancer	22000013	CNVD
Colon cancer	22065749	CNVD
Endometrial cancer	22065749	CNVD
Lung cancer	20668451	CNVD
Breast cancer	17634833	CNVD
Cancer	20215515	CNVD
Glioblastoma multiforme	21727940	CNVD
Prostate cancer	19363497	CNVD
Prostate cancer	17700571	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20964600	CNVD
Endometrial cancer	19261849	CNVD
Central neurocytomas	17123091	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung adenocarcinoma	17982442	CNVD
Bannayan-Riley-Ruvalcaba syndrome	20848651	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89647000-89711200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:89663600-89686400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:89663600-89687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:89663800-89725400	Weak transcription	Colonic Mucosa	Colon
5	chr10:89666000-89712400	Weak transcription	Fetal Brain Male	brain
6	chr10:89673600-89726000	Weak transcription	Brain Substantia Nigra	brain
7	chr10:89674000-89685600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:89674200-89695200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:89674200-89711000	Weak transcription	HepG2	liver
10	chr10:89674600-89686400	Weak transcription	HSMMtube	muscle
11	chr10:89674600-89687000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:89674600-89689800	Weak transcription	Fetal Lung	lung
13	chr10:89674600-89695600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:89674800-89724400	Weak transcription	Fetal Brain Female	brain
15	chr10:89675400-89686400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:89675400-89726000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:89675600-89685400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:89675600-89686200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:89675600-89687200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:89675600-89705000	Weak transcription	Fetal Stomach	stomach
21	chr10:89675600-89705200	Weak transcription	Esophagus	oesophagus
22	chr10:89676200-89686400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:89676600-89685400	Weak transcription	NH-A	brain
24	chr10:89676600-89685400	Weak transcription	Osteobl	bone
25	chr10:89676600-89685600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:89676600-89686200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:89676600-89686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:89676600-89686400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:89676600-89686400	Weak transcription	HMEC	breast
30	chr10:89676600-89686600	Weak transcription	Small Intestine	intestine
31	chr10:89676600-89695400	Weak transcription	Brain Anterior Caudate	brain
32	chr10:89676800-89685400	Weak transcription	K562	blood
33	chr10:89676800-89686400	Weak transcription	NHEK	skin
34	chr10:89676800-89691000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:89677000-89686400	Weak transcription	NHLF	lung
36	chr10:89677200-89688200	Weak transcription	A549	lung
37	chr10:89678000-89694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:89678600-89686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:89678800-89687000	Weak transcription	Liver	Liver
40	chr10:89679800-89691600	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:89680600-89685600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr10:89681000-89687200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr10:89681200-89686600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:89681400-89686400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:89681600-89689400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr10:89681800-89685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:89681800-89686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:89681800-89686400	Weak transcription	Aorta	Aorta
49	chr10:89681800-89691200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:89682000-89685400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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