Variant report

Variant	nsv550987
Chromosome Location	chr10:56554529-56589230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr10:56577925-56578181	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:56560906-56561244	MCF-7	breast:	n/a	n/a
3	CEBPB	chr10:56589023-56589331	HepG2	liver:	n/a	chr10:56589162-56589173
4	CEBPB	chr10:56589079-56589269	K562	blood:	n/a	chr10:56589162-56589173
5	CEBPB	chr10:56579944-56580079	A549	lung:	n/a	n/a
6	CEBPB	chr10:56562734-56563046	HepG2	liver:	n/a	chr10:56562890-56562901
7	CTCF	chr10:56560980-56561130	AG09319	gingival:	n/a	n/a
8	CTCF	chr10:56560980-56561130	HAc	cerebellar:	n/a	n/a
9	CTCF	chr10:56560940-56561090	BJ	skin:	n/a	n/a
10	CTCF	chr10:56560980-56561130	HRE	kidney:	n/a	n/a
11	CTCF	chr10:56560872-56561129	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr10:56560980-56561130	GM12871	blood:	n/a	n/a
13	CTCF	chr10:56560954-56561106	GM19239	blood:	n/a	n/a
14	CTCF	chr10:56560979-56561044	GM20000	blood:	n/a	n/a
15	CTCF	chr10:56560920-56561070	GM12872	blood:	n/a	n/a
16	CTCF	chr10:56560924-56561133	HepG2	liver:	n/a	n/a
17	CTCF	chr10:56561000-56561150	HEK293	kidney:	n/a	n/a
18	CTCF	chr10:56560803-56561192	T-47D	breast:	n/a	n/a
19	CTCF	chr10:56560840-56560990	GM12869	blood:	n/a	n/a
20	CTCF	chr10:56560957-56561141	GM10248	blood:	n/a	n/a
21	CTCF	chr10:56560964-56561167	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:56560960-56561110	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr10:56560860-56561010	GM12868	blood:	n/a	n/a
24	CTCF	chr10:56560655-56561317	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr10:56560940-56561090	HPF	lung:	n/a	n/a
26	CTCF	chr10:56560900-56561050	A549	lung:	n/a	n/a
27	CTCF	chr10:56561045-56561107	GM13976	blood:	n/a	n/a
28	CTCF	chr10:56560940-56561090	A549	lung:	n/a	n/a
29	CTCF	chr10:56560923-56561089	Lung_OC	lung:	n/a	n/a
30	CTCF	chr10:56560980-56561130	Caco-2	colon:	n/a	n/a
31	CTCF	chr10:56561050-56561120	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:56560940-56561090	GM12865	blood:	n/a	n/a
33	CTCF	chr10:56560940-56561090	HMF	breast:	n/a	n/a
34	CTCF	chr10:56561000-56561150	GM12866	blood:	n/a	n/a
35	CTCF	chr10:56560900-56561050	AG10803	skin:	n/a	n/a
36	CTCF	chr10:56560940-56561090	RPTEC	kidney:	n/a	n/a
37	CTCF	chr10:56560967-56561120	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr10:56560920-56561070	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr10:56560860-56561010	AG04450	lung:	n/a	n/a
40	CTCF	chr10:56560960-56561110	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr10:56560960-56561110	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr10:56560941-56561105	GM13977	blood:	n/a	n/a
43	CTCF	chr10:56560920-56561070	SAEC	small airway:	n/a	n/a
44	CTCF	chr10:56560944-56561252	GM10266	blood:	n/a	n/a
45	CTCF	chr10:56561000-56561150	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr10:56560880-56561030	GM12865	blood:	n/a	n/a
47	CTCF	chr10:56560760-56560910	HAc	cerebellar:	n/a	n/a
48	CTCF	chr10:56560920-56561070	GM12875	blood:	n/a	n/a
49	CTCF	chr10:56560891-56561158	Medullo	brain:	n/a	n/a
50	CTCF	chr10:56560836-56561223	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:56560945-56560995	HCT-116	colon:	n/a
2	chr10:56561096-56561146	MCF-7	breast:	n/a
3	chr10:56561124-56561174	NH-A	brain:	n/a
4	chr10:56561124-56561174	H1-hESC	embryonic stem cell:	embryo
5	chr10:56561096-56561146	CMK	blood:	n/a
6	chr10:56561124-56561174	MCF10A-Er-Src	breast:	n/a
7	chr10:56561213-56561263	Jurkat	blood:	n/a
8	chr10:56561096-56561146	GM06990	blood:	n/a
9	chr10:56561543-56561593	AG04450	lung:	fetal
10	chr10:56561096-56561146	ECC-1	luminal epithelium:	n/a
11	chr10:56560945-56560995	AG04449	skin:	fetal
12	chr10:56561543-56561593	HEEpiC	esophagus:	n/a
13	chr10:56561124-56561174	HCF	heart:	n/a
14	chr10:56561543-56561593	Jurkat	blood:	n/a
15	chr10:56561096-56561146	NH-A	brain:	n/a
16	chr10:56560945-56560995	T-47D	breast:	n/a
17	chr10:56561096-56561146	Hela-S3	cervix:	n/a
18	chr10:56561134-56561184	MCF10A-Er-Src	breast:	n/a
19	chr10:56561543-56561593	PFSK-1	brain:	n/a
20	chr10:56561096-56561146	HCM	heart:	n/a
21	chr10:56560945-56560995	HCPEpiC	choroid plexus:	n/a
22	chr10:56561134-56561184	SK-N-SH_RA	brain:	n/a
23	chr10:56561096-56561146	BJ	skin:	n/a
24	chr10:56561096-56561146	HRPEpiC	eye:	n/a
25	chr10:56561124-56561174	GM06990	blood:	n/a
26	chr10:56561543-56561593	HCM	heart:	n/a
27	chr10:56561134-56561184	HL-60	blood:	n/a
28	chr10:56561134-56561184	T-47D	breast:	n/a
29	chr10:56561134-56561184	HMEC	breast:	n/a
30	chr10:56561213-56561263	BJ	skin:	n/a
31	chr10:56561124-56561174	HMEC	breast:	n/a
32	chr10:56561213-56561263	HRPEpiC	eye:	n/a
33	chr10:56561543-56561593	AG10803	skin:	n/a
34	chr10:56561124-56561174	ECC-1	luminal epithelium:	n/a
35	chr10:56561134-56561184	SAEC	small airway:	n/a
36	chr10:56560945-56560995	NHBE	bronchial:	n/a
37	chr10:56561096-56561146	IMR90	lung:	fetal
38	chr10:56561124-56561174	SK-N-SH_RA	brain:	n/a
39	chr10:56561213-56561263	A549	lung:	n/a
40	chr10:56561134-56561184	Hela-S3	cervix:	n/a
41	chr10:56561543-56561593	SK-N-SH	brain:	n/a
42	chr10:56561096-56561146	AoSMC	blood vessel:	n/a
43	chr10:56560945-56560995	BE2_C	brain:	n/a
44	chr10:56560945-56560995	HL-60	blood:	n/a
45	chr10:56561543-56561593	SK-N-MC	brain:	n/a
46	chr10:56561096-56561146	PrEC	prostate:	n/a
47	chr10:56560945-56560995	PFSK-1	brain:	n/a
48	chr10:56561134-56561184	HNPCEpiC	eye:	n/a
49	chr10:56561134-56561184	SK-N-MC	brain:	n/a
50	chr10:56561124-56561174	AG09309	skin:	n/a

No data

Variant related genes	Relation type
PCDH15	TF binding region
PCDH15	CpG island

Extended variants
information (count: 440 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11004581	chr10:56554529-56554530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543858080	chr10:56554555-56554556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541069914	chr10:56554556-56554557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143236565	chr10:56554598-56554599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528380035	chr10:56554604-56554605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574232594	chr10:56554618-56554619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367848605	chr10:56554627-56554628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116353260	chr10:56554638-56554639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546540378	chr10:56554653-56554654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528753561	chr10:56554700-56554701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367871682	chr10:56554709-56554710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375773723	chr10:56554714-56554715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142026868	chr10:56554740-56554741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565093689	chr10:56554745-56554746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530941079	chr10:56554782-56554783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551044019	chr10:56554794-56554795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16906541	chr10:56554801-56554802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530253975	chr10:56554820-56554821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546786988	chr10:56554856-56554857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372949540	chr10:56554934-56554935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543165853	chr10:56554960-56554961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571571011	chr10:56554969-56554970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16906543	chr10:56554972-56554973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375915462	chr10:56555015-56555016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142118731	chr10:56555016-56555017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551011228	chr10:56555021-56555022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184559043	chr10:56555022-56555023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552446414	chr10:56555034-56555035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189811895	chr10:56555080-56555081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138025692	chr10:56555089-56555090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554177686	chr10:56555106-56555107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536375935	chr10:56555127-56555128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77958916	chr10:56555134-56555135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533664817	chr10:56555149-56555150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553258467	chr10:56555191-56555192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12766440	chr10:56555293-56555294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12768503	chr10:56555294-56555295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573395417	chr10:56555301-56555302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545330152	chr10:56555306-56555307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555133972	chr10:56555373-56555374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565571870	chr10:56555404-56555405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141719037	chr10:56555413-56555414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181859675	chr10:56555426-56555427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542371338	chr10:56555441-56555442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150598696	chr10:56555448-56555449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561295854	chr10:56555469-56555470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530180979	chr10:56555475-56555476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373136066	chr10:56555495-56555496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566909136	chr10:56555542-56555543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560040933	chr10:56555577-56555578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56553200-56556800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:56554600-56559200	Weak transcription	Fetal Lung	lung
3	chr10:56556400-56557000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:56556600-56557000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr10:56556600-56557000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr10:56556600-56557200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:56556600-56557200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:56556600-56558600	Enhancers	HUVEC	blood vessel
9	chr10:56556800-56557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr10:56556800-56557400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:56556800-56557600	Enhancers	NH-A	brain
12	chr10:56556800-56558200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:56557000-56558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:56557000-56560800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:56557200-56557800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:56557200-56560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:56557400-56557600	Enhancers	NHEK	skin
18	chr10:56557400-56557800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:56557400-56557800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:56557400-56558200	Enhancers	HMEC	breast
21	chr10:56557600-56558000	Flanking Active TSS	NH-A	brain
22	chr10:56557600-56558000	Flanking Active TSS	NHEK	skin
23	chr10:56557800-56558000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:56558000-56558200	Enhancers	NH-A	brain
25	chr10:56558000-56561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:56558200-56561000	Weak transcription	NH-A	brain
27	chr10:56558400-56560400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:56559200-56560400	Enhancers	Fetal Lung	lung
29	chr10:56559200-56561400	Active TSS	Fetal Kidney	kidney
30	chr10:56559800-56560000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr10:56559800-56561000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:56560200-56561400	Active TSS	Brain Hippocampus Middle	brain
33	chr10:56560400-56560800	Active TSS	Fetal Lung	lung
34	chr10:56560400-56561200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:56560400-56561400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:56560400-56561400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:56560600-56561000	Active TSS	Fetal Brain Female	brain
38	chr10:56560600-56561000	Active TSS	Right Atrium	heart
39	chr10:56560600-56561200	Active TSS	Brain Cingulate Gyrus	brain
40	chr10:56560600-56561400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:56560600-56561400	Active TSS	Brain Anterior Caudate	brain
42	chr10:56560600-56561400	Enhancers	Brain Germinal Matrix	brain
43	chr10:56560600-56561400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:56560800-56561000	Active TSS	Stomach Smooth Muscle	stomach
45	chr10:56560800-56561200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:56560800-56561200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:56560800-56561200	Active TSS	Brain Angular Gyrus	brain
48	chr10:56560800-56561200	Active TSS	Brain Substantia Nigra	brain
49	chr10:56560800-56561200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr10:56560800-56561200	Flanking Active TSS	Fetal Lung	lung

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