Variant report

Variant	nsv550986
Chromosome Location	chr10:56550427-56599297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:368)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 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	BACH1	chr10:56594583-56594662	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr10:56577925-56578181	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:56592870-56593085	Hela-S3	cervix:	n/a	chr10:56592979-56592990
4	CEBPB	chr10:56579944-56580079	A549	lung:	n/a	n/a
5	CEBPB	chr10:56589023-56589331	HepG2	liver:	n/a	chr10:56589162-56589173
6	CEBPB	chr10:56553918-56554118	IMR90	lung:	n/a	chr10:56554011-56554022 chr10:56554011-56554020
7	CEBPB	chr10:56562734-56563046	HepG2	liver:	n/a	chr10:56562890-56562901
8	CEBPB	chr10:56560906-56561244	MCF-7	breast:	n/a	n/a
9	CEBPB	chr10:56592836-56593148	K562	blood:	n/a	chr10:56592979-56592990
10	CEBPB	chr10:56589079-56589269	K562	blood:	n/a	chr10:56589162-56589173
11	CEBPB	chr10:56592814-56593128	HepG2	liver:	n/a	chr10:56592979-56592990
12	CEBPB	chr10:56592829-56593148	IMR90	lung:	n/a	chr10:56592979-56592990
13	CTCF	chr10:56560880-56561030	GM12864	blood:	n/a	n/a
14	CTCF	chr10:56560898-56561194	NHEK	skin:	n/a	n/a
15	CTCF	chr10:56560920-56561070	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr10:56584237-56584274	HepG2	liver:	n/a	n/a
17	CTCF	chr10:56560840-56560990	GM12869	blood:	n/a	n/a
18	CTCF	chr10:56560803-56561192	T-47D	breast:	n/a	n/a
19	CTCF	chr10:56560957-56561141	GM10248	blood:	n/a	n/a
20	CTCF	chr10:56560940-56561090	GM12801	blood:	n/a	n/a
21	CTCF	chr10:56560925-56561144	LNCaP	prostate:	n/a	n/a
22	CTCF	chr10:56560901-56561180	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:56560960-56561110	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:56560940-56561090	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr10:56560954-56561106	GM19239	blood:	n/a	n/a
26	CTCF	chr10:56560960-56561110	GM12873	blood:	n/a	n/a
27	CTCF	chr10:56560960-56561110	GM12865	blood:	n/a	n/a
28	CTCF	chr10:56560900-56561050	BJ	skin:	n/a	n/a
29	CTCF	chr10:56560980-56561130	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr10:56560920-56561070	SAEC	small airway:	n/a	n/a
31	CTCF	chr10:56561050-56561120	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:56561000-56561150	HEK293	kidney:	n/a	n/a
33	CTCF	chr10:56560960-56561110	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr10:56560940-56561090	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr10:56560920-56561070	RPTEC	kidney:	n/a	n/a
36	CTCF	chr10:56561000-56561150	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr10:56560940-56561090	HMF	breast:	n/a	n/a
38	CTCF	chr10:56560920-56561070	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr10:56560885-56561218	Gliobla	brain:	n/a	n/a
40	CTCF	chr10:56560982-56561080	Fibrobl	skin:	n/a	n/a
41	CTCF	chr10:56560920-56561070	AG04450	lung:	n/a	n/a
42	CTCF	chr10:56560900-56561050	A549	lung:	n/a	n/a
43	CTCF	chr10:56584181-56584296	HepG2	liver:	n/a	n/a
44	CTCF	chr10:56560960-56561110	NHEK	skin:	n/a	n/a
45	CTCF	chr10:56560960-56561110	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr10:56560940-56561090	RPTEC	kidney:	n/a	n/a
47	CTCF	chr10:56560960-56561110	NHLF	lung:	n/a	n/a
48	CTCF	chr10:56560960-56561110	GM12864	blood:	n/a	n/a
49	CTCF	chr10:56560940-56561122	GM12878	blood:	n/a	n/a
50	CTCF	chr10:56560960-56561110	HCPEpiC	choroid plexus:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:56561124-56561174	H1-hESC	embryonic stem cell:	embryo
2	chr10:56561543-56561593	BE2_C	brain:	n/a
3	chr10:56561124-56561174	H1-hESC	embryonic stem cell:	embryo
4	chr10:56561543-56561593	BE2_C	brain:	n/a
5	chr10:56561213-56561263	H1-hESC	embryonic stem cell:	embryo
6	chr10:56561096-56561146	BE2_C	brain:	n/a
7	chr10:56561134-56561184	IMR90	lung:	fetal
8	chr10:56560945-56560995	HUVEC	blood vessel:	n/a
9	chr10:56560945-56560995	SKMC	muscle:	n/a
10	chr10:56561543-56561593	U87	brain:	n/a
11	chr10:56561124-56561174	Caco-2	colon:	n/a
12	chr10:56561213-56561263	HCF	heart:	n/a
13	chr10:56561543-56561593	MCF10A-Er-Src	breast:	n/a
14	chr10:56561134-56561184	SK-N-SH_RA	brain:	n/a
15	chr10:56561096-56561146	HIPEpiC	eye:	n/a
16	chr10:56561213-56561263	T-47D	breast:	n/a
17	chr10:56561543-56561593	H1-hESC	embryonic stem cell:	embryo
18	chr10:56561134-56561184	BJ	skin:	n/a
19	chr10:56561543-56561593	PrEC	prostate:	n/a
20	chr10:56561213-56561263	CMK	blood:	n/a
21	chr10:56561134-56561184	ProgFib	skin:	n/a
22	chr10:56561543-56561593	NT2-D1	testis:	n/a
23	chr10:56561124-56561174	SK-N-SH_RA	brain:	n/a
24	chr10:56561096-56561146	H1-hESC	embryonic stem cell:	embryo
25	chr10:56561543-56561593	Caco-2	colon:	n/a
26	chr10:56561543-56561593	HUVEC	blood vessel:	n/a
27	chr10:56560945-56560995	MCF-7	breast:	n/a
28	chr10:56561096-56561146	SK-N-MC	brain:	n/a
29	chr10:56560945-56560995	SK-N-SH	brain:	n/a
30	chr10:56561543-56561593	NHBE	bronchial:	n/a
31	chr10:56560945-56560995	T-47D	breast:	n/a
32	chr10:56561124-56561174	MCF-7	breast:	n/a
33	chr10:56561213-56561263	LNCaP	prostate:	n/a
34	chr10:56561213-56561263	HEK293	kidney:	embryo
35	chr10:56561213-56561263	HRPEpiC	eye:	n/a
36	chr10:56561096-56561146	MCF10A-Er-Src	breast:	n/a
37	chr10:56561134-56561184	SK-N-MC	brain:	n/a
38	chr10:56561096-56561146	BJ	skin:	n/a
39	chr10:56561134-56561184	PrEC	prostate:	n/a
40	chr10:56560945-56560995	NHBE	bronchial:	n/a
41	chr10:56561096-56561146	HAEpiC	amniotic membrane:	n/a
42	chr10:56560945-56560995	BE2_C	brain:	n/a
43	chr10:56561096-56561146	GM12892	blood:	n/a
44	chr10:56561213-56561263	GM12892	blood:	n/a
45	chr10:56561096-56561146	HNPCEpiC	eye:	n/a
46	chr10:56561134-56561184	GM12891	blood:	n/a
47	chr10:56561096-56561146	HCM	heart:	n/a
48	chr10:56560945-56560995	HPAEpiC	pulmonary alveolar:	n/a
49	chr10:56561096-56561146	HRE	kidney:	n/a
50	chr10:56561096-56561146	AG09319	gingival:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:56598785..56601451-chr10:56605100..56606903,2	K562	blood:

No data

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

Extended variants
information (count: 630 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11004579	chr10:56550427-56550428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555941603	chr10:56550449-56550450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150643573	chr10:56550452-56550453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185380330	chr10:56550459-56550460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138861922	chr10:56550471-56550472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527554695	chr10:56550480-56550481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141796873	chr10:56550504-56550505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557583052	chr10:56550509-56550510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575870183	chr10:56550514-56550515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34351404	chr10:56550561-56550562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539414299	chr10:56550575-56550576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549551202	chr10:56550584-56550585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189861980	chr10:56550630-56550631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535224515	chr10:56550635-56550636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555171098	chr10:56550678-56550679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568683194	chr10:56550731-56550732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534451874	chr10:56550751-56550752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58399484	chr10:56550769-56550770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577515816	chr10:56550814-56550815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569680267	chr10:56550830-56550831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146237008	chr10:56550928-56550929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556319754	chr10:56550943-56550944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193265673	chr10:56550965-56550966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576462675	chr10:56550972-56550973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542857085	chr10:56551018-56551019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73268228	chr10:56551057-56551058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561512326	chr10:56551058-56551059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185388918	chr10:56551069-56551070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540873022	chr10:56551093-56551094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564395838	chr10:56551160-56551161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533109085	chr10:56551211-56551212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549728249	chr10:56551213-56551214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569568923	chr10:56551237-56551238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139448785	chr10:56551263-56551264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370533729	chr10:56551269-56551270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573475800	chr10:56551270-56551271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549107127	chr10:56551316-56551317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149962105	chr10:56551341-56551342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189301268	chr10:56551342-56551343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180978516	chr10:56551435-56551436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571111975	chr10:56551452-56551453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541006892	chr10:56551486-56551487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539775946	chr10:56551500-56551501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557269844	chr10:56551524-56551525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185012351	chr10:56551535-56551536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576374941	chr10:56551622-56551623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541881669	chr10:56551639-56551640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555446034	chr10:56551663-56551664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572245259	chr10:56551720-56551721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188647905	chr10:56551730-56551731	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56549400-56554400	Weak transcription	Fetal Lung	lung
2	chr10:56552800-56553200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:56553200-56556800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:56554600-56559200	Weak transcription	Fetal Lung	lung
5	chr10:56556400-56557000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:56556600-56557000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:56556600-56557000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:56556600-56557200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:56556600-56557200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr10:56556600-56558600	Enhancers	HUVEC	blood vessel
11	chr10:56556800-56557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:56556800-56557400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:56556800-56557600	Enhancers	NH-A	brain
14	chr10:56556800-56558200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:56557000-56558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:56557000-56560800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:56557200-56557800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:56557200-56560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:56557400-56557600	Enhancers	NHEK	skin
20	chr10:56557400-56557800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:56557400-56557800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:56557400-56558200	Enhancers	HMEC	breast
23	chr10:56557600-56558000	Flanking Active TSS	NH-A	brain
24	chr10:56557600-56558000	Flanking Active TSS	NHEK	skin
25	chr10:56557800-56558000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:56558000-56558200	Enhancers	NH-A	brain
27	chr10:56558000-56561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:56558200-56561000	Weak transcription	NH-A	brain
29	chr10:56558400-56560400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:56559200-56560400	Enhancers	Fetal Lung	lung
31	chr10:56559200-56561400	Active TSS	Fetal Kidney	kidney
32	chr10:56559800-56560000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr10:56559800-56561000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:56560200-56561400	Active TSS	Brain Hippocampus Middle	brain
35	chr10:56560400-56560800	Active TSS	Fetal Lung	lung
36	chr10:56560400-56561200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:56560400-56561400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:56560400-56561400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:56560600-56561000	Active TSS	Fetal Brain Female	brain
40	chr10:56560600-56561000	Active TSS	Right Atrium	heart
41	chr10:56560600-56561200	Active TSS	Brain Cingulate Gyrus	brain
42	chr10:56560600-56561400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:56560600-56561400	Active TSS	Brain Anterior Caudate	brain
44	chr10:56560600-56561400	Enhancers	Brain Germinal Matrix	brain
45	chr10:56560600-56561400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr10:56560800-56561000	Active TSS	Stomach Smooth Muscle	stomach
47	chr10:56560800-56561200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr10:56560800-56561200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:56560800-56561200	Active TSS	Brain Angular Gyrus	brain
50	chr10:56560800-56561200	Active TSS	Brain Substantia Nigra	brain

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