Variant report

Variant	nsv520796
Chromosome Location	chr10:91007470-91010479
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	BATF	chr10:91008922-91009145	GM12878	blood:	n/a	chr10:91009024-91009035 chr10:91009025-91009035
2	BATF	chr10:91008901-91009157	GM12878	blood:	n/a	chr10:91009024-91009035 chr10:91009025-91009035
3	CUX1	chr10:91008760-91008856	GM12878	blood:	n/a	n/a
4	GATA2	chr10:91010373-91012017	SH-SY5Y	brain:	n/a	chr10:91010773-91010783 chr10:91010775-91010782 chr10:91011555-91011564 chr10:91011953-91011962 chr10:91010773-91010782 chr10:91010770-91010786 chr10:91010775-91010782 chr10:91010775-91010782 chr10:91010768-91010789
5	GATA3	chr10:91010427-91010988	SH-SY5Y	brain:	n/a	chr10:91010773-91010783 chr10:91010775-91010782 chr10:91010774-91010782 chr10:91010773-91010782 chr10:91010770-91010786 chr10:91010775-91010782 chr10:91010775-91010782 chr10:91010768-91010789
6	GATA3	chr10:91010407-91011248	SK-N-SH	brain:	n/a	chr10:91010773-91010783 chr10:91010775-91010782 chr10:91010774-91010782 chr10:91010773-91010782 chr10:91010770-91010786 chr10:91010775-91010782 chr10:91010775-91010782 chr10:91010768-91010789
7	GATA3	chr10:91010472-91011133	MCF-7	breast:	n/a	chr10:91010773-91010783 chr10:91010775-91010782 chr10:91010774-91010782 chr10:91010773-91010782 chr10:91010770-91010786 chr10:91010775-91010782 chr10:91010775-91010782 chr10:91010768-91010789
8	GATA3	chr10:91009395-91009548	SH-SY5Y	brain:	n/a	n/a
9	HDAC2	chr10:91010025-91010311	HepG2	liver:	n/a	n/a
10	HEY1	chr10:91010117-91010316	HepG2	liver:	n/a	n/a
11	HNF4A	chr10:91010021-91010247	HepG2	liver:	n/a	chr10:91010161-91010174 chr10:91010160-91010173 chr10:91010159-91010174 chr10:91010161-91010174
12	HNF4A	chr10:91010016-91010265	HepG2	liver:	n/a	chr10:91010161-91010174 chr10:91010160-91010173 chr10:91010159-91010174 chr10:91010161-91010174
13	IKZF1	chr10:91008739-91009088	GM12878	blood:	n/a	n/a
14	MAFK	chr10:91008744-91009000	HepG2	liver:	n/a	chr10:91008873-91008884 chr10:91008873-91008884 chr10:91008874-91008885 chr10:91008869-91008885 chr10:91008874-91008885 chr10:91008872-91008886
15	MXI1	chr10:91010333-91012194	IMR90	lung:	n/a	n/a
16	MXI1	chr10:91010270-91012216	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr10:91010320-91011839	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:91008724-91008906	GM12878	blood:	n/a	n/a
19	RUNX3	chr10:91008542-91009183	GM12878	blood:	n/a	n/a
20	RUNX3	chr10:91008626-91009146	GM12878	blood:	n/a	n/a
21	TBP	chr10:91008714-91008957	GM12878	blood:	n/a	n/a
22	TBP	chr10:91009996-91010565	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:91008159-91008209	Caco-2	colon:	n/a
2	chr10:91008159-91008209	GM12891	blood:	n/a
3	chr10:91008159-91008209	GM12878	blood:	n/a
4	chr10:91008159-91008209	NHBE	bronchial:	n/a
5	chr10:91008159-91008209	PFSK-1	brain:	n/a
6	chr10:91008159-91008209	HAEpiC	amniotic membrane:	n/a
7	chr10:91008159-91008209	NH-A	brain:	n/a
8	chr10:91008159-91008209	HMEC	breast:	n/a
9	chr10:91008159-91008209	T-47D	breast:	n/a
10	chr10:91008159-91008209	BJ	skin:	n/a
11	chr10:91008159-91008209	LNCaP	prostate:	n/a
12	chr10:91008159-91008209	NB4	blood:	n/a
13	chr10:91008159-91008209	Jurkat	blood:	n/a
14	chr10:91008159-91008209	HRPEpiC	eye:	n/a
15	chr10:91008159-91008209	HL-60	blood:	n/a
16	chr10:91008159-91008209	IMR90	lung:	fetal
17	chr10:91008159-91008209	GM06990	blood:	n/a
18	chr10:91008159-91008209	AG10803	skin:	n/a
19	chr10:91008159-91008209	SKMC	muscle:	n/a
20	chr10:91008159-91008209	CMK	blood:	n/a
21	chr10:91008159-91008209	HCF	heart:	n/a
22	chr10:91008159-91008209	HRE	kidney:	n/a
23	chr10:91008159-91008209	ProgFib	skin:	n/a
24	chr10:91008159-91008209	HEK293	kidney:	embryo
25	chr10:91008159-91008209	HCT-116	colon:	n/a
26	chr10:91008159-91008209	NT2-D1	testis:	n/a
27	chr10:91008159-91008209	SK-N-SH_RA	brain:	n/a
28	chr10:91008159-91008209	H1-hESC	embryonic stem cell:	embryo
29	chr10:91008159-91008209	SAEC	small airway:	n/a
30	chr10:91008159-91008209	K562	blood:	n/a
31	chr10:91008159-91008209	A549	lung:	n/a
32	chr10:91008159-91008209	HCM	heart:	n/a
33	chr10:91008159-91008209	HepG2	liver:	n/a
34	chr10:91008159-91008209	ECC-1	luminal epithelium:	n/a
35	chr10:91008159-91008209	NHDF-neo	bronchial:	n/a
36	chr10:91008159-91008209	SK-N-SH	brain:	n/a
37	chr10:91008159-91008209	AG04449	skin:	fetal
38	chr10:91008159-91008209	HRCEpiC	kidney:	n/a
39	chr10:91008159-91008209	SK-N-MC	brain:	n/a
40	chr10:91008159-91008209	U87	brain:	n/a
41	chr10:91008159-91008209	PrEC	prostate:	n/a
42	chr10:91008159-91008209	Hepatocyte	liver:	n/a
43	chr10:91008159-91008209	HNPCEpiC	eye:	n/a
44	chr10:91008159-91008209	RPTEC	kidney:	n/a
45	chr10:91008159-91008209	HEEpiC	esophagus:	n/a
46	chr10:91008159-91008209	BE2_C	brain:	n/a
47	chr10:91008159-91008209	HIPEpiC	eye:	n/a
48	chr10:91008159-91008209	GM12892	blood:	n/a
49	chr10:91008159-91008209	AG04450	lung:	fetal
50	chr10:91008159-91008209	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91004556..91008070-chr10:91009861..91011850,3	MCF-7	breast:
2	chr10:91009631..91012227-chr10:91174311..91176643,2	MCF-7	breast:
3	chr10:91004556..91008070-chr10:91009861..91011850,3	MCF-7	breast:
4	chr10:90610616..90613278-chr10:91010263..91012632,2	MCF-7	breast:

Variant related genes	Relation type
LIPA	TF binding region
LIPA	CpG island
ENSG00000107798	chromatin interactions
ENSG00000152778	chromatin interactions
ENSG00000152766	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2250781	chr10:91007470-91007471	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560951760	chr10:91007471-91007472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531559903	chr10:91007521-91007522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549681451	chr10:91007544-91007545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201133421	chr10:91007546-91007547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532284398	chr10:91007554-91007555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190591295	chr10:91007580-91007581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565727058	chr10:91007583-91007584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2902562	chr10:91007596-91007597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3063809	chr10:91007603-91007604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200372012	chr10:91007604-91007605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536398060	chr10:91007607-91007608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71022557	chr10:91007640-91007641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370658133	chr10:91007641-91007642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548259833	chr10:91007691-91007692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377503155	chr10:91007703-91007704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183189633	chr10:91007719-91007720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537008602	chr10:91007731-91007732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577802277	chr10:91007736-91007737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs578215306	chr10:91007769-91007770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538957314	chr10:91007771-91007772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554395008	chr10:91007777-91007778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187517556	chr10:91007781-91007782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542723404	chr10:91007951-91007952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561013610	chr10:91007988-91007989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576050785	chr10:91008005-91008006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575440467	chr10:91008044-91008045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543826811	chr10:91008149-91008150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565119026	chr10:91008165-91008166	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs199819768	chr10:91008178-91008179	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs377027356	chr10:91008196-91008197	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs375077106	chr10:91008197-91008198	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs367815355	chr10:91008199-91008200	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs371387728	chr10:91008200-91008201	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs370127110	chr10:91008201-91008202	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs60969785	chr10:91008214-91008215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11203049	chr10:91008216-91008217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11203050	chr10:91008217-91008218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190070810	chr10:91008226-91008227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368248515	chr10:91008292-91008293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371834363	chr10:91008293-91008294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559754188	chr10:91008326-91008327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183067326	chr10:91008400-91008401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373931086	chr10:91008408-91008409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75371417	chr10:91008410-91008411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559309320	chr10:91008459-91008460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373895758	chr10:91008463-91008464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187757336	chr10:91008464-91008465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556971716	chr10:91008480-91008481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369597035	chr10:91008484-91008485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	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
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
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90977400-91010400	Weak transcription	Fetal Thymus	thymus
2	chr10:90977400-91010800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:90977600-91008800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:90977600-91009400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:90977600-91010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:90977600-91010800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:90985200-91010600	Weak transcription	Thymus	Thymus
8	chr10:90987400-91010800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:90987600-91010800	Weak transcription	Pancreas	Pancrea
10	chr10:90987800-91010600	Weak transcription	HSMM	muscle
11	chr10:90988000-91010600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:90994800-91010800	Weak transcription	Esophagus	oesophagus
13	chr10:90999600-91010400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:90999800-91010000	Weak transcription	Dnd41	blood
15	chr10:90999800-91010400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:90999800-91010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:90999800-91010600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:90999800-91010600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:90999800-91010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:90999800-91010800	Weak transcription	Ovary	ovary
21	chr10:91000000-91010400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:91000000-91010600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:91000200-91010600	Weak transcription	Brain Germinal Matrix	brain
24	chr10:91000200-91010600	Weak transcription	Fetal Brain Female	brain
25	chr10:91000600-91010400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:91000600-91010800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:91001000-91010600	Weak transcription	Fetal Stomach	stomach
28	chr10:91001000-91010600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:91001200-91009400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:91001200-91010600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:91001200-91010800	Weak transcription	Lung	lung
32	chr10:91002000-91009000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:91002200-91010200	Weak transcription	Hela-S3	cervix
34	chr10:91002200-91010400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:91002200-91010400	Weak transcription	Fetal Lung	lung
36	chr10:91002200-91010600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:91002400-91008800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:91002400-91010200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:91002400-91010200	Weak transcription	Fetal Intestine Small	intestine
40	chr10:91002400-91010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:91002400-91010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:91002400-91010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:91002400-91010800	Weak transcription	Left Ventricle	heart
44	chr10:91002800-91009400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:91002800-91010200	Weak transcription	NHEK	skin
46	chr10:91002800-91010400	Weak transcription	Osteobl	bone
47	chr10:91002800-91010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:91003000-91009600	Weak transcription	Liver	Liver
49	chr10:91003000-91010400	Weak transcription	Small Intestine	intestine
50	chr10:91003200-91009400	Weak transcription	Brain Anterior Caudate	brain

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