Variant report

Variant	nsv975786
Chromosome Location	chr10:96352319-96359053
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	E2F4	chr10:96355957-96356237	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr10:96355235-96355296	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr10:96356714-96356901	SH-SY5Y	brain:	n/a	n/a
4	JUND	chr10:96354107-96354338	HepG2	liver:	n/a	chr10:96354214-96354225
5	MAFK	chr10:96352748-96352806	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:96355973-96356016	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:96356083-96356276	K562	blood:	n/a	n/a
8	POLR2A	chr10:96352458-96352607	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr10:96355935-96356078	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr10:96358033-96358048	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr10:96357663-96357829	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:96313161..96315470-chr10:96353062..96355863,2	K562	blood:
2	chr10:96339432..96341136-chr10:96352569..96355112,2	K562	blood:
3	chr10:96352629..96354716-chr10:96356087..96359536,3	K562	blood:

Variant related genes	Relation type
HELLS	TF binding region
ENSG00000119969	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:283 , 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	rs541958950	chr10:96352351-96352352	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562169929	chr10:96352388-96352389	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530850021	chr10:96352395-96352396	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567150126	chr10:96352440-96352441	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111662956	chr10:96352473-96352474	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564797575	chr10:96352476-96352477	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs149445673	chr10:96352483-96352484	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533651978	chr10:96352518-96352519	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547287456	chr10:96352533-96352534	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs34919977	chr10:96352547-96352548	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567074873	chr10:96352552-96352553	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529470118	chr10:96352560-96352561	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372160099	chr10:96352564-96352565	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548847195	chr10:96352570-96352571	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576158486	chr10:96352571-96352572	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs148891086	chr10:96352623-96352624	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376778312	chr10:96352625-96352626	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115256640	chr10:96352693-96352694	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570873592	chr10:96352744-96352745	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577143745	chr10:96352766-96352767	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533854827	chr10:96352767-96352768	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553601458	chr10:96352806-96352807	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573508995	chr10:96352811-96352812	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142702516	chr10:96352838-96352839	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368108169	chr10:96352863-96352864	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575671148	chr10:96352894-96352895	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547259048	chr10:96352899-96352900	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150928932	chr10:96352932-96352933	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560240143	chr10:96352943-96352944	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373917293	chr10:96352964-96352965	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3781263	chr10:96352967-96352968	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551851065	chr10:96352977-96352978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540938824	chr10:96353008-96353009	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560759908	chr10:96353024-96353025	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529511099	chr10:96353033-96353034	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12767763	chr10:96353042-96353043	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191541921	chr10:96353043-96353044	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562480388	chr10:96353058-96353059	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531455032	chr10:96353066-96353067	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551031201	chr10:96353070-96353071	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140748775	chr10:96353152-96353153	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533502429	chr10:96353172-96353173	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568855112	chr10:96353175-96353176	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547326110	chr10:96353179-96353180	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3781262	chr10:96353201-96353202	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201128633	chr10:96353233-96353234	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184110385	chr10:96353238-96353239	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144657635	chr10:96353273-96353274	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188843001	chr10:96353289-96353290	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558241959	chr10:96353318-96353319	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306400-96357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:96306400-96365600	Weak transcription	Esophagus	oesophagus
3	chr10:96306400-96370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:96306400-96370600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:96306400-96371000	Weak transcription	Ovary	ovary
6	chr10:96306600-96353800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:96306800-96357200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
10	chr10:96307000-96358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:96307000-96375000	Weak transcription	Osteobl	bone
12	chr10:96307200-96371200	Weak transcription	Fetal Brain Male	brain
13	chr10:96307600-96356000	Weak transcription	NHDF-Ad	bronchial
14	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
15	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:96309400-96354000	Weak transcription	K562	blood
18	chr10:96309600-96372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:96312200-96354000	Weak transcription	Gastric	stomach
21	chr10:96312800-96372200	Strong transcription	Dnd41	blood
22	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:96315000-96369200	Weak transcription	Fetal Kidney	kidney
24	chr10:96316000-96371400	Weak transcription	Fetal Brain Female	brain
25	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:96316200-96357600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:96317000-96372600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:96321000-96353200	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96324000-96356600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:96324200-96353800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:96324200-96365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:96325800-96376000	Weak transcription	NHLF	lung
35	chr10:96331000-96377400	Weak transcription	Placenta	Placenta
36	chr10:96331200-96361800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:96332400-96359200	Weak transcription	Left Ventricle	heart
38	chr10:96335400-96357200	Weak transcription	Small Intestine	intestine
39	chr10:96338800-96354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:96338800-96372000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:96339600-96353200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:96339600-96353600	Weak transcription	Fetal Intestine Small	intestine
43	chr10:96341000-96352800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:96345400-96355000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:96345400-96360000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:96345400-96360400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:96345400-96371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:96345600-96372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:96346200-96353800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr10:96346200-96355200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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