Variant report

Variant	nsv948135
Chromosome Location	chr10:93423027-93430220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:93424129-93424329	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:93425797-93426135	IMR90	lung:	n/a	n/a
3	GATA3	chr10:93425479-93425881	T-47D	breast:	n/a	n/a
4	GATA3	chr10:93425390-93426234	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr10:93425516-93426119	SK-N-SH	brain:	n/a	n/a
6	MAFF	chr10:93422829-93423027	K562	blood:	n/a	n/a
7	MAFF	chr10:93422858-93423058	HepG2	liver:	n/a	n/a
8	MAFK	chr10:93422817-93423092	IMR90	lung:	n/a	n/a
9	MAFK	chr10:93422783-93423087	HepG2	liver:	n/a	n/a
10	MAFK	chr10:93422803-93423043	HepG2	liver:	n/a	n/a
11	MAFK	chr10:93422934-93423044	Hela-S3	cervix:	n/a	n/a
12	NFIC	chr10:93425395-93426111	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr10:93425405-93426077	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr10:93425488-93426075	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr10:93425521-93425981	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr10:93427802-93427893	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr10:93423563-93423573	A549	lung:	n/a	n/a
18	POLR2A	chr10:93425775-93425822	ProgFib	skin:	n/a	n/a
19	POLR2A	chr10:93426539-93426540	Gliobla	brain:	n/a	n/a
20	POLR2A	chr10:93426499-93426616	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:93426826-93426931	A549	lung:	n/a	n/a
22	POLR2A	chr10:93423727-93423736	A549	lung:	n/a	n/a
23	POLR2A	chr10:93426525-93426535	Gliobla	brain:	n/a	n/a
24	POLR2A	chr10:93423577-93423718	A549	lung:	n/a	n/a
25	RCOR1	chr10:93425705-93425825	K562	blood:	n/a	n/a
26	RCOR1	chr10:93425546-93426178	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93411332..93412973-chr10:93428669..93431138,2	MCF-7	breast:
2	chr10:93422934..93425044-chr10:93558921..93560973,2	K562	blood:
3	chr10:93429753..93431431-chr10:93432536..93434439,2	MCF-7	breast:
4	chr10:93428056..93430246-chr10:93430391..93432462,3	MCF-7	breast:

No data

Variant related genes	Relation type
GAPDHP28	TF binding region

Extended variants
information (count: 274 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563871080	chr10:93423046-93423047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187829779	chr10:93423047-93423048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563246919	chr10:93423066-93423067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577017331	chr10:93423171-93423172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60729272	chr10:93423203-93423204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76975828	chr10:93423285-93423286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528730020	chr10:93423296-93423297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7903660	chr10:93423366-93423367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs562005198	chr10:93423376-93423377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59425998	chr10:93423394-93423395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76098116	chr10:93423471-93423472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550581339	chr10:93423494-93423495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534676810	chr10:93423513-93423514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570464053	chr10:93423546-93423547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10881945	chr10:93423583-93423584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs146819239	chr10:93423584-93423585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377411482	chr10:93423591-93423592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534855494	chr10:93423603-93423604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536895460	chr10:93423619-93423620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375321129	chr10:93423626-93423627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562674339	chr10:93423678-93423679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58528906	chr10:93423750-93423751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192312747	chr10:93423761-93423762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537295232	chr10:93423773-93423774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557005931	chr10:93423774-93423775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2421629	chr10:93423775-93423776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs139301608	chr10:93423816-93423817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148677956	chr10:93423854-93423855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386746532	chr10:93423860-93423861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2421631	chr10:93423861-93423862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2421632	chr10:93423863-93423864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371362093	chr10:93423888-93423889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71306840	chr10:93423892-93423893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71025363	chr10:93423894-93423895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199924776	chr10:93423895-93423896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75946657	chr10:93423909-93423910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572835583	chr10:93423922-93423923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185270992	chr10:93423945-93423946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367779771	chr10:93423982-93423983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189802382	chr10:93423989-93423990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562110362	chr10:93424035-93424036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555315442	chr10:93424046-93424047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531110931	chr10:93424071-93424072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550818834	chr10:93424077-93424078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564429428	chr10:93424086-93424087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533185817	chr10:93424087-93424088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546665020	chr10:93424133-93424134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566973550	chr10:93424169-93424170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139682692	chr10:93424204-93424205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375963343	chr10:93424210-93424211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93419200-93431400	Weak transcription	Psoas Muscle	Psoas
2	chr10:93420400-93424200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:93424200-93424600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:93424200-93426000	Enhancers	NHDF-Ad	bronchial
5	chr10:93424400-93424800	Enhancers	Osteobl	bone
6	chr10:93424600-93426800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:93424800-93425600	Weak transcription	Osteobl	bone
8	chr10:93424800-93449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:93425000-93425600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:93425200-93426800	Weak transcription	Liver	Liver
11	chr10:93425600-93425800	Enhancers	Osteobl	bone
12	chr10:93425800-93432000	Weak transcription	Osteobl	bone
13	chr10:93426800-93427600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:93426800-93427600	Strong transcription	Liver	Liver
15	chr10:93427000-93443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:93427600-93431400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:93427600-93448800	Weak transcription	Liver	Liver
18	chr10:93428000-93428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:93428200-93428600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:93428200-93429200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:93428200-93431200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr10:93428400-93429200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:93428400-93429400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:93428600-93428800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:93428600-93428800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr10:93428600-93429000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:93428600-93429000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:93428600-93429800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:93428800-93429000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:93428800-93429000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:93429000-93429200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:93429000-93429200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr10:93429000-93429200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr10:93429000-93429400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr10:93429000-93431000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:93429000-93431400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:93429200-93429400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr10:93429200-93430000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr10:93429200-93430000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:93429200-93431800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:93429200-93431800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:93429400-93429600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:93429400-93431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:93429400-93431800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr10:93429600-93430000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr10:93429800-93431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:93430000-93430200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:93430000-93431400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr10:93430000-93431800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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