Variant report

Variant	nsv948134
Chromosome Location	chr10:93224011-93239053
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	ARID3A	chr10:93231354-93231772	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:93231477-93231685	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:93236200-93236498	Hela-S3	cervix:	n/a	chr10:93236334-93236345
4	CEBPB	chr10:93236219-93236456	HepG2	liver:	n/a	chr10:93236334-93236345
5	CEBPB	chr10:93229978-93230235	IMR90	lung:	n/a	n/a
6	CEBPB	chr10:93236210-93236506	H1-hESC	embryonic stem cell:	n/a	chr10:93236334-93236345
7	CEBPB	chr10:93236258-93236558	ECC-1	luminal epithelium:	n/a	chr10:93236334-93236345
8	CEBPB	chr10:93236259-93236531	ECC-1	luminal epithelium:	n/a	chr10:93236334-93236345
9	CEBPB	chr10:93236171-93236516	HepG2	liver:	n/a	chr10:93236334-93236345
10	CEBPB	chr10:93236275-93236457	HepG2	liver:	n/a	chr10:93236334-93236345
11	CEBPB	chr10:93236191-93236515	K562	blood:	n/a	chr10:93236334-93236345
12	CEBPB	chr10:93236260-93236437	MCF-7	breast:	n/a	chr10:93236334-93236345
13	CEBPB	chr10:93236164-93236526	HepG2	liver:	n/a	chr10:93236334-93236345
14	CEBPB	chr10:93236210-93236522	IMR90	lung:	n/a	chr10:93236334-93236345
15	CEBPB	chr10:93236193-93236513	A549	lung:	n/a	chr10:93236334-93236345
16	CTCF	chr10:93238893-93238932	ProgFib	skin:	n/a	n/a
17	EBF1	chr10:93225034-93225397	GM12878	blood:	n/a	chr10:93225216-93225227
18	EBF1	chr10:93225021-93225379	GM12878	blood:	n/a	chr10:93225216-93225227
19	FOXA1	chr10:93231508-93231711	T-47D	breast:	n/a	n/a
20	GABPA	chr10:93236063-93236562	HL-60	blood:	n/a	n/a
21	GABPA	chr10:93236126-93236569	HL-60	blood:	n/a	n/a
22	GABPA	chr10:93236269-93236424	HepG2	liver:	n/a	n/a
23	GABPA	chr10:93236239-93236426	HepG2	liver:	n/a	n/a
24	GTF2F1	chr10:93228131-93228267	Hela-S3	cervix:	n/a	n/a
25	MAFF	chr10:93237009-93237325	K562	blood:	n/a	chr10:93237169-93237187
26	MAFF	chr10:93224359-93224508	K562	blood:	n/a	chr10:93224455-93224469 chr10:93224449-93224467
27	MAFF	chr10:93224346-93224600	HepG2	liver:	n/a	chr10:93224455-93224469 chr10:93224449-93224467
28	MAFF	chr10:93236992-93237354	HepG2	liver:	n/a	chr10:93237169-93237187
29	MAFK	chr10:93237012-93237331	K562	blood:	n/a	chr10:93237170-93237185
30	MAFK	chr10:93224423-93224544	Hela-S3	cervix:	n/a	chr10:93224452-93224472 chr10:93224452-93224463 chr10:93224451-93224467 chr10:93224451-93224466 chr10:93224454-93224470 chr10:93224455-93224469
31	MAFK	chr10:93236994-93237359	HepG2	liver:	n/a	chr10:93237170-93237185
32	MAFK	chr10:93237037-93237327	Hela-S3	cervix:	n/a	chr10:93237170-93237185
33	MAFK	chr10:93236992-93237332	HepG2	liver:	n/a	chr10:93237170-93237185
34	MAFK	chr10:93224315-93224629	HepG2	liver:	n/a	chr10:93224452-93224472 chr10:93224452-93224463 chr10:93224451-93224467 chr10:93224451-93224466 chr10:93224454-93224470 chr10:93224455-93224469
35	MAFK	chr10:93237083-93237283	H1-hESC	embryonic stem cell:	n/a	chr10:93237170-93237185
36	MAFK	chr10:93236987-93237359	IMR90	lung:	n/a	chr10:93237170-93237185
37	MAFK	chr10:93224299-93224635	HepG2	liver:	n/a	chr10:93224452-93224472 chr10:93224452-93224463 chr10:93224451-93224467 chr10:93224451-93224466 chr10:93224454-93224470 chr10:93224455-93224469
38	MAFK	chr10:93224308-93224626	IMR90	lung:	n/a	chr10:93224452-93224472 chr10:93224452-93224463 chr10:93224451-93224467 chr10:93224451-93224466 chr10:93224454-93224470 chr10:93224455-93224469
39	MAX	chr10:93227474-93227986	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr10:93227623-93227690	MCF-7	breast:	n/a	n/a
41	MYC	chr10:93227709-93227724	MCF-7	breast:	n/a	n/a
42	MYC	chr10:93227735-93227793	MCF-7	breast:	n/a	n/a
43	MYC	chr10:93227757-93227776	MCF-7	breast:	n/a	n/a
44	NFYA	chr10:93224952-93225152	GM12878	blood:	n/a	n/a
45	PBX3	chr10:93230689-93230791	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:93230570-93230770	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr10:93227007-93227076	MCF-7	breast:	n/a	n/a
48	POLR2A	chr10:93227080-93227103	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:93227538-93227550	Gliobla	brain:	n/a	n/a
50	POLR2A	chr10:93227388-93227580	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:93222597..93225004-chr10:93227464..93229499,2	K562	blood:
2	chr10:93169232..93170758-chr10:93223754..93225469,2	MCF-7	breast:
3	chr10:93216968..93219311-chr10:93231033..93233211,2	K562	blood:
4	chr10:93225738..93228556-chr10:93240715..93243653,2	MCF-7	breast:
5	chr10:93236378..93238651-chr10:93239232..93241686,2	K562	blood:

Variant related genes	Relation type
HECTD2	TF binding region
ENSG00000271385	TF binding region
ENSG00000271385	chromatin interactions
ENSG00000165338	chromatin interactions

Extended variants
information (count: 487 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538142852	chr10:93224094-93224095	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551047113	chr10:93224128-93224129	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569585175	chr10:93224200-93224201	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533871990	chr10:93224224-93224225	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560365580	chr10:93224294-93224295	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142628720	chr10:93224325-93224326	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535156923	chr10:93224410-93224411	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574272350	chr10:93224447-93224448	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191733424	chr10:93224471-93224472	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556739859	chr10:93224485-93224486	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35581877	chr10:93224486-93224487	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377655673	chr10:93224496-93224497	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374274723	chr10:93224500-93224501	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577144104	chr10:93224544-93224545	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115883504	chr10:93224549-93224550	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376154221	chr10:93224551-93224552	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564928523	chr10:93224572-93224573	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572134470	chr10:93224579-93224580	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541110148	chr10:93224596-93224597	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561011684	chr10:93224600-93224601	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530155882	chr10:93224642-93224643	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548855346	chr10:93224646-93224647	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150971617	chr10:93224658-93224659	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140867330	chr10:93224717-93224718	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184662173	chr10:93224730-93224731	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187561737	chr10:93224755-93224756	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192543832	chr10:93224766-93224767	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555017642	chr10:93224784-93224785	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368320743	chr10:93224802-93224803	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527320791	chr10:93224807-93224808	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547433441	chr10:93224812-93224813	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs58531347	chr10:93224851-93224852	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111912355	chr10:93224924-93224925	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567344693	chr10:93224948-93224949	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367591168	chr10:93224988-93224989	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556441075	chr10:93225068-93225069	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372120035	chr10:93225091-93225092	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570272695	chr10:93225215-93225216	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185556769	chr10:93225299-93225300	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560068820	chr10:93225317-93225318	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375041509	chr10:93225402-93225403	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558856016	chr10:93225436-93225437	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147060057	chr10:93225450-93225451	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540997955	chr10:93225476-93225477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554546044	chr10:93225505-93225506	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35201953	chr10:93225547-93225548	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574795871	chr10:93225621-93225622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116246243	chr10:93225631-93225632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544409960	chr10:93225644-93225645	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34865895	chr10:93225653-93225654	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93184400-93226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:93186000-93226800	Weak transcription	Pancreas	Pancrea
3	chr10:93213200-93224200	Weak transcription	Aorta	Aorta
4	chr10:93214200-93272000	Weak transcription	HUVEC	blood vessel
5	chr10:93218000-93224200	Weak transcription	Left Ventricle	heart
6	chr10:93218000-93230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:93218200-93224200	Weak transcription	Esophagus	oesophagus
8	chr10:93218600-93228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:93219600-93224200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:93219600-93247600	Weak transcription	HSMMtube	muscle
11	chr10:93219800-93224200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:93219800-93224200	Strong transcription	Adipose Nuclei	Adipose
13	chr10:93220000-93224200	Weak transcription	Fetal Intestine Small	intestine
14	chr10:93220200-93224800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:93220200-93225000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:93220200-93225000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:93220200-93226200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:93220200-93226800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:93220400-93224200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:93220600-93226600	Weak transcription	NHLF	lung
21	chr10:93220600-93226800	Weak transcription	A549	lung
22	chr10:93220600-93271400	Weak transcription	HMEC	breast
23	chr10:93220800-93229200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr10:93220800-93248200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:93220800-93259400	Weak transcription	Primary T cells from cord blood	blood
26	chr10:93221000-93226600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:93221000-93228800	Weak transcription	Primary B cells from cord blood	blood
28	chr10:93221600-93224400	Weak transcription	Fetal Stomach	stomach
29	chr10:93221800-93224400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:93221800-93224800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:93221800-93225000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:93221800-93225200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:93221800-93225400	Strong transcription	HSMM	muscle
34	chr10:93221800-93226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:93222000-93225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:93222200-93224200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:93222200-93224200	Strong transcription	Colon Smooth Muscle	Colon
38	chr10:93222200-93226000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:93222200-93228000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:93222400-93224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:93222400-93224200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:93222400-93224600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:93222400-93225000	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:93222400-93225200	Strong transcription	Dnd41	blood
45	chr10:93222400-93226400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:93222400-93228200	Strong transcription	Fetal Brain Male	brain
47	chr10:93222400-93230400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:93222600-93224200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:93222600-93226800	Weak transcription	Gastric	stomach
50	chr10:93222600-93226800	Weak transcription	Thymus	Thymus

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