Variant report

Variant	nsv947683
Chromosome Location	chr10:91020881-91035791
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	chr10:91029596-91029934	HepG2	liver:	n/a	n/a
2	BRCA1	chr10:91021951-91022889	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:91029700-91029884	K562	blood:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
4	CEBPB	chr10:91035134-91035596	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr10:91029586-91029955	HepG2	liver:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
6	CEBPB	chr10:91035003-91035620	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr10:91029592-91030229	IMR90	lung:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
8	CEBPB	chr10:91022107-91023026	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr10:91029553-91029939	ECC-1	luminal epithelium:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
10	CEBPB	chr10:91029573-91030193	HepG2	liver:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
11	CEBPB	chr10:91029608-91029844	HepG2	liver:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
12	CEBPB	chr10:91029660-91030252	A549	lung:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
13	CEBPB	chr10:91035160-91035487	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr10:91035102-91035514	MCF-7	breast:	n/a	n/a
15	CEBPB	chr10:91029576-91029976	HepG2	liver:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
16	CEBPB	chr10:91024049-91024155	HepG2	liver:	n/a	chr10:91024062-91024073
17	CEBPB	chr10:91029574-91030097	Hela-S3	cervix:	n/a	chr10:91029758-91029769 chr10:91029758-91029771 chr10:91029760-91029771
18	CEBPB	chr10:91035047-91035638	MCF-7	breast:	n/a	n/a
19	CEBPD	chr10:91029612-91029881	HepG2	liver:	n/a	chr10:91029759-91029770
20	CHD2	chr10:91022208-91022892	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr10:91023620-91023770	HEK293	kidney:	n/a	n/a
22	CTCF	chr10:91035000-91035150	AG10803	skin:	n/a	n/a
23	CTCF	chr10:91035080-91035230	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr10:91035040-91035190	RPTEC	kidney:	n/a	n/a
25	CTCF	chr10:91032448-91032503	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr10:91022220-91022370	AG04449	skin:	n/a	n/a
27	CTCF	chr10:91034840-91034990	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr10:91035080-91035230	HRE	kidney:	n/a	n/a
29	CTCF	chr10:91035060-91035210	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr10:91035020-91035170	AG09309	skin:	n/a	n/a
31	CTCF	chr10:91019825-91020911	A549	lung:	n/a	chr10:91020286-91020295 chr10:91020283-91020301 chr10:91020286-91020299 chr10:91020285-91020306
32	CTCF	chr10:91035060-91035210	HEK293	kidney:	n/a	n/a
33	CTCF	chr10:91027460-91027610	A549	lung:	n/a	n/a
34	CTCF	chr10:91019672-91021147	SK-N-SH	brain:	n/a	chr10:91020286-91020295 chr10:91020283-91020301 chr10:91020286-91020299 chr10:91020285-91020306
35	CTCF	chr10:91035000-91035150	A549	lung:	n/a	n/a
36	ELF1	chr10:91022058-91022708	MCF-7	breast:	n/a	n/a
37	ELK1	chr10:91023481-91023570	Hela-S3	cervix:	n/a	n/a
38	EP300	chr10:91022073-91022504	T-47D	breast:	n/a	n/a
39	EP300	chr10:91021952-91022777	A549	lung:	n/a	n/a
40	EP300	chr10:91022092-91022989	Hela-S3	cervix:	n/a	chr10:91022879-91022893
41	EP300	chr10:91022014-91022530	MCF-7	breast:	n/a	n/a
42	EP300	chr10:91033716-91034048	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr10:91029649-91029864	HepG2	liver:	n/a	n/a
44	EP300	chr10:91022028-91023097	SK-N-SH	brain:	n/a	chr10:91022879-91022893
45	EP300	chr10:91029574-91029886	HepG2	liver:	n/a	n/a
46	EP300	chr10:91021963-91022758	A549	lung:	n/a	n/a
47	EP300	chr10:91021859-91023009	SK-N-SH	brain:	n/a	chr10:91022879-91022893
48	EP300	chr10:91033762-91034063	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr10:91034692-91035060	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr10:91022116-91022472	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91020387..91022060-chr10:91024157..91025732,2	MCF-7	breast:
2	chr10:91035256..91038390-chr10:91040352..91044173,3	MCF-7	breast:
3	chr10:91003937..91005930-chr10:91020803..91022906,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CH25H-1	chr10:91027403-91028240	ucscGeneNc_uc001kgd_2

Variant related genes	Relation type
ENSG00000266769	TF binding region
ENSG00000232110	chromatin interactions
ENSG00000266769	chromatin interactions

Extended variants
information (count: 530 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79638014	chr10:91020892-91020893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532238222	chr10:91020909-91020910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs17118228	chr10:91020946-91020947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139360730	chr10:91020958-91020959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143494878	chr10:91021013-91021014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534514845	chr10:91021018-91021019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539862952	chr10:91021033-91021034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567867246	chr10:91021043-91021044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560935851	chr10:91021077-91021078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112239629	chr10:91021088-91021089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538081006	chr10:91021134-91021135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545272686	chr10:91021177-91021178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193181938	chr10:91021192-91021193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182618369	chr10:91021198-91021199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538743464	chr10:91021274-91021275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7899993	chr10:91021295-91021296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187315561	chr10:91021323-91021324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72814764	chr10:91021349-91021350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191409721	chr10:91021375-91021376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74329346	chr10:91021419-91021420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183614571	chr10:91021434-91021435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565072589	chr10:91021435-91021436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532250332	chr10:91021474-91021475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547473519	chr10:91021481-91021482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559405231	chr10:91021503-91021504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147171024	chr10:91021585-91021586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140282988	chr10:91021629-91021630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567899188	chr10:91021633-91021634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7922193	chr10:91021645-91021646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs550008437	chr10:91021651-91021652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187908115	chr10:91021660-91021661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558149730	chr10:91021661-91021662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111571099	chr10:91021684-91021685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs193033446	chr10:91021717-91021718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571598421	chr10:91021727-91021728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185776608	chr10:91021733-91021734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73357802	chr10:91021768-91021769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532064806	chr10:91021786-91021787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114016487	chr10:91021890-91021891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77772870	chr10:91021893-91021894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576307852	chr10:91021899-91021900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189911155	chr10:91021933-91021934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538682890	chr10:91021967-91021968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565085821	chr10:91021969-91021970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181659248	chr10:91021981-91021982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34695743	chr10:91021996-91021997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11203054	chr10:91022025-91022026	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144234260	chr10:91022061-91022062	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370203887	chr10:91022080-91022081	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs17383479	chr10:91022111-91022112	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91011400-91021600	Weak transcription	Fetal Brain Male	brain
2	chr10:91012000-91021800	Weak transcription	Right Atrium	heart
3	chr10:91014400-91023400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:91019600-91021000	Enhancers	Brain Hippocampus Middle	brain
5	chr10:91019800-91022400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr10:91020000-91021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:91020000-91021000	Enhancers	Brain Anterior Caudate	brain
8	chr10:91020000-91021000	Enhancers	Fetal Lung	lung
9	chr10:91020000-91021200	Enhancers	Brain Substantia Nigra	brain
10	chr10:91020000-91022000	Enhancers	Hela-S3	cervix
11	chr10:91020000-91023200	Enhancers	HMEC	breast
12	chr10:91020000-91023600	Enhancers	Brain Angular Gyrus	brain
13	chr10:91020000-91023600	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:91020000-91023600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:91020000-91023600	Enhancers	NHEK	skin
16	chr10:91020000-91024000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:91020200-91021000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:91020200-91021000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:91020200-91021000	Enhancers	Placenta	Placenta
20	chr10:91020200-91022400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:91020200-91023000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:91020200-91023000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:91020200-91023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:91020200-91024200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr10:91020400-91021000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:91020400-91021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:91020400-91021000	Enhancers	HSMM	muscle
28	chr10:91020400-91021200	Enhancers	NHLF	lung
29	chr10:91020400-91022200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:91020400-91022600	Enhancers	A549	lung
31	chr10:91020400-91023000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr10:91020400-91023400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:91020400-91023600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:91020400-91023600	Enhancers	NHDF-Ad	bronchial
35	chr10:91020400-91023800	Enhancers	Osteobl	bone
36	chr10:91020600-91021200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:91020600-91022000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:91020600-91023400	Weak transcription	Pancreas	Pancrea
39	chr10:91020600-91024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:91020600-91025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:91020600-91027800	Weak transcription	Right Ventricle	heart
42	chr10:91020600-91035000	Weak transcription	Esophagus	oesophagus
43	chr10:91020800-91021000	Enhancers	HepG2	liver
44	chr10:91020800-91021200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:91020800-91021400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr10:91020800-91021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:91020800-91021800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:91020800-91021800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:91020800-91021800	Weak transcription	Adipose Nuclei	Adipose
50	chr10:91020800-91021800	Weak transcription	Fetal Intestine Small	intestine

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