Variant report

Variant	nsv948151
Chromosome Location	chr10:98318755-98321287
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	CEBPB	chr10:98321082-98321305	A549	lung:	n/a	chr10:98321175-98321186
2	CEBPB	chr10:98321069-98321297	K562	blood:	n/a	chr10:98321175-98321186
3	CEBPB	chr10:98321050-98321346	HepG2	liver:	n/a	chr10:98321175-98321186
4	CEBPB	chr10:98319050-98319156	A549	lung:	n/a	n/a
5	CEBPB	chr10:98321014-98321331	A549	lung:	n/a	chr10:98321175-98321186
6	CEBPB	chr10:98321001-98321353	IMR90	lung:	n/a	chr10:98321175-98321186
7	CTCF	chr10:98320279-98320339	Gliobla	brain:	n/a	n/a
8	CTCF	chr10:98320180-98320330	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr10:98320233-98320356	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr10:98320276-98320370	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:98320279-98320351	LNCaP	prostate:	n/a	n/a
12	CTCF	chr10:98320200-98320350	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr10:98320300-98320450	HEK293	kidney:	n/a	n/a
14	CTCF	chr10:98320230-98320388	MCF-7	breast:	n/a	n/a
15	FAM48A	chr10:98319301-98319329	GM12878	blood:	n/a	n/a
16	FOS	chr10:98320789-98321292	MCF10A-Er-Src	breast:	n/a	chr10:98321218-98321230
17	FOS	chr10:98320793-98321244	MCF10A-Er-Src	breast:	n/a	chr10:98321218-98321230
18	FOS	chr10:98320967-98321303	MCF10A-Er-Src	breast:	n/a	chr10:98321218-98321230
19	FOS	chr10:98320789-98321125	MCF10A-Er-Src	breast:	n/a	n/a
20	HEY1	chr10:98319859-98320017	HepG2	liver:	n/a	n/a
21	HEY1	chr10:98319816-98320112	K562	blood:	n/a	n/a
22	HEY1	chr10:98319853-98320098	HepG2	liver:	n/a	n/a
23	HEY1	chr10:98319870-98320067	K562	blood:	n/a	n/a
24	POLR2A	chr10:98319831-98320022	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:98319882-98320016	GM12891	blood:	n/a	n/a
26	POLR2A	chr10:98319682-98319983	K562	blood:	n/a	n/a
27	POLR2A	chr10:98319830-98320013	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr10:98319818-98320072	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:98320693-98320969	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:98319729-98320455	GM12892	blood:	n/a	n/a
31	POLR2A	chr10:98319854-98320068	A549	lung:	n/a	n/a
32	POLR2A	chr10:98319793-98320173	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr10:98319761-98320086	GM12891	blood:	n/a	n/a
34	POLR2A	chr10:98319857-98320007	A549	lung:	n/a	n/a
35	POLR2A	chr10:98319675-98320151	GM12891	blood:	n/a	n/a
36	POLR2A	chr10:98319772-98320085	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr10:98319700-98320078	GM12892	blood:	n/a	n/a
38	POLR2A	chr10:98319701-98320329	GM12891	blood:	n/a	n/a
39	POLR2A	chr10:98318749-98318981	A549	lung:	n/a	n/a
40	POLR2A	chr10:98318539-98320031	HepG2	liver:	n/a	n/a
41	POLR2A	chr10:98319716-98319762	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr10:98318451-98319476	K562	blood:	n/a	n/a
43	POLR2A	chr10:98321187-98321368	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr10:98319860-98320032	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr10:98321221-98321494	HepG2	liver:	n/a	n/a
46	POLR2A	chr10:98319913-98319976	A549	lung:	n/a	n/a
47	POLR2A	chr10:98319840-98320149	GM12892	blood:	n/a	n/a
48	POLR2A	chr10:98319858-98320028	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:98319769-98320274	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:98319653-98320443	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98320190..98322994-chr10:98323948..98326728,2	K562	blood:

Variant related genes	Relation type
NPM1P26	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561828071	chr10:98318756-98318757	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74354201	chr10:98318776-98318777	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185794732	chr10:98318802-98318803	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7071224	chr10:98318820-98318821	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12248288	chr10:98318821-98318822	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555250795	chr10:98318850-98318851	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551561066	chr10:98318901-98318902	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12240642	chr10:98318974-98318975	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537237954	chr10:98318996-98318997	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200990755	chr10:98319010-98319011	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11188827	chr10:98319016-98319017	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs375193552	chr10:98319050-98319051	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190367288	chr10:98319063-98319064	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550586692	chr10:98319086-98319087	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567816558	chr10:98319118-98319119	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576839554	chr10:98319126-98319127	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs117755322	chr10:98319127-98319128	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150491432	chr10:98319129-98319130	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145406921	chr10:98319165-98319166	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557567869	chr10:98319170-98319171	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201877044	chr10:98319180-98319181	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs386372174	chr10:98319184-98319185	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs75079690	chr10:98319186-98319187	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201690527	chr10:98319187-98319188	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369043806	chr10:98319209-98319210	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543204458	chr10:98319219-98319220	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561938793	chr10:98319225-98319226	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529165576	chr10:98319235-98319236	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10128106	chr10:98319236-98319237	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541697740	chr10:98319278-98319279	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559711051	chr10:98319282-98319283	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371647777	chr10:98319334-98319335	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533360706	chr10:98319358-98319359	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375902497	chr10:98319364-98319365	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3818389	chr10:98319367-98319368	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs11188828	chr10:98319374-98319375	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531037851	chr10:98319376-98319377	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376372337	chr10:98319390-98319391	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549282274	chr10:98319434-98319435	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3818390	chr10:98319503-98319504	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
41	rs111953439	chr10:98319584-98319585	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553231621	chr10:98319588-98319589	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs41291636	chr10:98319613-98319614	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376293940	chr10:98319623-98319624	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571656950	chr10:98319711-98319712	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568880543	chr10:98319749-98319750	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs114006908	chr10:98319800-98319801	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs17392013	chr10:98319815-98319816	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs115771362	chr10:98319829-98319830	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537162675	chr10:98319837-98319838	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	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	chr10:98274200-98328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:98274200-98328600	Weak transcription	Pancreas	Pancrea
3	chr10:98274200-98331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:98276400-98319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:98276400-98343200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:98277800-98330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:98278600-98318800	Weak transcription	Small Intestine	intestine
8	chr10:98286200-98323000	Weak transcription	Lung	lung
9	chr10:98286600-98338400	Weak transcription	Aorta	Aorta
10	chr10:98286600-98339400	Weak transcription	Brain Angular Gyrus	brain
11	chr10:98286600-98345600	Weak transcription	Esophagus	oesophagus
12	chr10:98290000-98344200	Weak transcription	Spleen	Spleen
13	chr10:98292600-98344800	Weak transcription	Brain Germinal Matrix	brain
14	chr10:98293600-98326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:98295400-98320800	Weak transcription	Fetal Heart	heart
16	chr10:98296200-98320600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr10:98297000-98329200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr10:98297200-98325000	Strong transcription	Placenta	Placenta
19	chr10:98297800-98324800	Strong transcription	Dnd41	blood
20	chr10:98298200-98322400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:98298400-98324600	Strong transcription	Primary B cells from cord blood	blood
22	chr10:98298600-98324600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:98298600-98325000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:98298600-98325200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr10:98298800-98320000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr10:98298800-98324200	Strong transcription	Fetal Thymus	thymus
27	chr10:98298800-98325600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr10:98299000-98325200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr10:98299400-98324200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr10:98300800-98322400	Strong transcription	HepG2	liver
31	chr10:98301200-98322600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr10:98304000-98318800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr10:98304400-98325600	Weak transcription	NHLF	lung
34	chr10:98305400-98320400	Strong transcription	Fetal Intestine Large	intestine
35	chr10:98305400-98321600	Strong transcription	GM12878-XiMat	blood
36	chr10:98305400-98325000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr10:98305800-98325000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:98307400-98319600	Weak transcription	Brain Substantia Nigra	brain
39	chr10:98307400-98331200	Weak transcription	Fetal Brain Male	brain
40	chr10:98307600-98318800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:98307600-98328200	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:98307600-98328600	Weak transcription	Right Ventricle	heart
43	chr10:98307800-98328600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr10:98307800-98331000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr10:98307800-98341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:98308000-98325600	Weak transcription	Brain Anterior Caudate	brain
47	chr10:98308000-98330800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr10:98308600-98319800	Weak transcription	Fetal Stomach	stomach
49	chr10:98308600-98320600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:98308600-98320600	Strong transcription	HUVEC	blood vessel

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