Variant report

Variant	nsv948193
Chromosome Location	chr10:116448714-116451141
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	BRCA1	chr10:116448592-116448874	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr10:116448612-116448914	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr10:116450019-116450072	Kidney_OC	kidney:	n/a	n/a
4	EP300	chr10:116451070-116451750	Hela-S3	cervix:	n/a	chr10:116451561-116451575 chr10:116451314-116451323 chr10:116451229-116451242 chr10:116451684-116451694
5	FOS	chr10:116448578-116448865	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
6	FOS	chr10:116448624-116448894	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
7	FOS	chr10:116451121-116451768	MCF10A-Er-Src	breast:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451312-116451323 chr10:116451313-116451323
8	FOS	chr10:116448538-116448894	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
9	FOS	chr10:116451099-116451559	HUVEC	blood vessel:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451312-116451323 chr10:116451313-116451323
10	FOS	chr10:116451130-116451842	MCF10A-Er-Src	breast:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451312-116451323 chr10:116451313-116451323
11	FOSL2	chr10:116451016-116451662	SK-N-SH	brain:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
12	FOSL2	chr10:116451075-116451610	A549	lung:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
13	GATA3	chr10:116450974-116451815	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr10:116451060-116451721	SK-N-SH	brain:	n/a	n/a
15	JUN	chr10:116451109-116451443	H1-hESC	embryonic stem cell:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
16	JUND	chr10:116451006-116451758	SK-N-SH	brain:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
17	JUND	chr10:116451135-116451827	Hela-S3	cervix:	n/a	chr10:116451313-116451323 chr10:116451312-116451324 chr10:116451313-116451322 chr10:116451313-116451323 chr10:116451313-116451323 chr10:116451313-116451323
18	PBX3	chr10:116451044-116451801	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr10:116448581-116448893	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr10:116448558-116448836	Hela-S3	cervix:	n/a	n/a
21	STAT3	chr10:116448538-116448886	MCF10A-Er-Src	breast:	n/a	chr10:116448670-116448681
22	STAT3	chr10:116448566-116448799	MCF10A-Er-Src	breast:	n/a	chr10:116448670-116448681
23	STAT3	chr10:116448553-116448828	MCF10A-Er-Src	breast:	n/a	chr10:116448670-116448681
24	TCF12	chr10:116451077-116451827	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr10:116451136-116451820	ECC-1	luminal epithelium:	n/a	n/a
26	ZBTB33	chr10:116450023-116450296	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116450951..116452471-chr17:41400809..41402597,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM1	TF binding region
PPIAP19	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546028934	chr10:116448721-116448722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572745009	chr10:116448728-116448729	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190085116	chr10:116448732-116448733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111981572	chr10:116448737-116448738	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529176391	chr10:116448759-116448760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550825086	chr10:116448781-116448782	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542059353	chr10:116448796-116448797	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17793192	chr10:116448806-116448807	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552387988	chr10:116448858-116448859	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570878756	chr10:116448861-116448862	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76841353	chr10:116448886-116448887	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546938603	chr10:116448891-116448892	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs76593789	chr10:116448930-116448931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535723923	chr10:116448972-116448973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182730756	chr10:116449007-116449008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542049927	chr10:116449124-116449125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557164828	chr10:116449129-116449130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35878862	chr10:116449140-116449141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373130034	chr10:116449141-116449142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569097950	chr10:116449162-116449163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188555065	chr10:116449183-116449184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557567907	chr10:116449214-116449215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144201320	chr10:116449246-116449247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11196878	chr10:116449273-116449274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555322276	chr10:116449277-116449278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574020398	chr10:116449301-116449302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544509872	chr10:116449306-116449307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140068901	chr10:116449317-116449318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191704584	chr10:116449318-116449319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10885597	chr10:116449319-116449320	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564439128	chr10:116449324-116449325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528557300	chr10:116449370-116449371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557927564	chr10:116449410-116449411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72831073	chr10:116449421-116449422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144987259	chr10:116449429-116449430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149090406	chr10:116449430-116449431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199919059	chr10:116449433-116449434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76855924	chr10:116449482-116449483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370445827	chr10:116449483-116449484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558306569	chr10:116449485-116449486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548442277	chr10:116449508-116449509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566475701	chr10:116449512-116449513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143164343	chr10:116449515-116449516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188943663	chr10:116449558-116449559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191281329	chr10:116449620-116449621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544182193	chr10:116449659-116449660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35029654	chr10:116449693-116449694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61869076	chr10:116449868-116449869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577834699	chr10:116449878-116449879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544897562	chr10:116449882-116449883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr10:116444400-116448800	Weak transcription	Ovary	ovary
3	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
5	chr10:116445400-116450800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:116445600-116450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:116445600-116450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:116445600-116450800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:116445600-116450800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:116445600-116450800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:116445600-116450800	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:116445600-116450800	Weak transcription	HSMMtube	muscle
13	chr10:116445600-116451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:116445600-116451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:116445600-116452800	Weak transcription	Right Atrium	heart
16	chr10:116445600-116454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:116445600-116455800	Weak transcription	Right Ventricle	heart
18	chr10:116445800-116448800	Enhancers	Fetal Heart	heart
19	chr10:116445800-116450800	Weak transcription	HMEC	breast
20	chr10:116445800-116450800	Weak transcription	NHDF-Ad	bronchial
21	chr10:116445800-116451000	Weak transcription	NHLF	lung
22	chr10:116445800-116454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:116446000-116450800	Weak transcription	HSMM	muscle
24	chr10:116446000-116450800	Weak transcription	NH-A	brain
25	chr10:116446000-116451000	Weak transcription	HUVEC	blood vessel
26	chr10:116446000-116451000	Weak transcription	NHEK	skin
27	chr10:116446000-116459200	Weak transcription	Fetal Intestine Small	intestine
28	chr10:116446200-116450800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:116446200-116451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:116446200-116456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:116446400-116451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:116447200-116451000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr10:116447200-116451000	Weak transcription	A549	lung
34	chr10:116447200-116451200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:116447400-116450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:116447400-116450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:116447400-116450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:116447400-116451400	Weak transcription	Fetal Lung	lung
39	chr10:116447400-116452400	Weak transcription	Left Ventricle	heart
40	chr10:116447600-116450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:116447600-116451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:116447600-116451200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:116448000-116450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:116448000-116451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:116448000-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:116448000-116455600	Weak transcription	Adipose Nuclei	Adipose
47	chr10:116448200-116449200	Enhancers	Hela-S3	cervix
48	chr10:116448200-116449800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:116448400-116448800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:116448400-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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