Variant report

Variant	esv3497855
Chromosome Location	chr10:93632941-93634999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93628714..93630767-chr10:93634147..93636054,2	K562	blood:
2	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:
3	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:
4	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564240028	chr10:93632949-93632950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368404515	chr10:93632955-93632956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201868353	chr10:93632958-93632959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530123257	chr10:93632972-93632973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546647728	chr10:93632986-93632987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551928906	chr10:93632997-93632998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559469348	chr10:93633012-93633013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528389306	chr10:93633019-93633020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2487514	chr10:93633062-93633063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs567965691	chr10:93633075-93633076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549026012	chr10:93633175-93633176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537040986	chr10:93633206-93633207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187257820	chr10:93633223-93633224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570546884	chr10:93633258-93633259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540067648	chr10:93633294-93633295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199569212	chr10:93633483-93633484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201131381	chr10:93633496-93633497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553625672	chr10:93633640-93633641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12781971	chr10:93633674-93633675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532564592	chr10:93633782-93633783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79183014	chr10:93633789-93633790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570627051	chr10:93633913-93633914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535784551	chr10:93633930-93633931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555980944	chr10:93634014-93634015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7893378	chr10:93634095-93634096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193044138	chr10:93634173-93634174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564266353	chr10:93634496-93634497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375091988	chr10:93634497-93634498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148033318	chr10:93634559-93634560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75523384	chr10:93634561-93634562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75084220	chr10:93634562-93634563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538588007	chr10:93634637-93634638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145170827	chr10:93634655-93634656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386746544	chr10:93634657-93634658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77338295	chr10:93634658-93634659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377355722	chr10:93634659-93634660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528242496	chr10:93634670-93634671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575692141	chr10:93634794-93634795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188870504	chr10:93634812-93634813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562007289	chr10:93634893-93634894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193094380	chr10:93634969-93634970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568022198	chr10:93634971-93634972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184842781	chr10:93634990-93634991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570434535	chr10:93634998-93634999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93599600-93634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:93608800-93639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:93618400-93639400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:93622600-93639000	Weak transcription	Brain Germinal Matrix	brain
6	chr10:93622800-93639200	Weak transcription	Brain Angular Gyrus	brain
7	chr10:93624200-93634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:93624200-93639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:93625800-93634400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:93625800-93639000	Weak transcription	Fetal Brain Female	brain
11	chr10:93626200-93634800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:93626200-93639600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
14	chr10:93627000-93634400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:93627600-93639000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:93627600-93639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:93627800-93639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:93629600-93634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:93629600-93634800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:93629600-93638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:93629600-93639000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:93629600-93639200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:93632800-93639200	Weak transcription	Placenta	Placenta
24	chr10:93634400-93634800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:93634400-93634800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr10:93634400-93634800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr10:93634400-93634800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:93634600-93635000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:93634600-93635200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:93634800-93635000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:93634800-93635200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:93634800-93639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:93634800-93639000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:93634800-93639000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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