Variant report

Variant	nsv971920
Chromosome Location	chr10:56548526-56565969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:190)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:190 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:56553918-56554118	IMR90	lung:	n/a	chr10:56554011-56554022 chr10:56554011-56554020
2	CEBPB	chr10:56562734-56563046	HepG2	liver:	n/a	chr10:56562890-56562901
3	CEBPB	chr10:56560906-56561244	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:56560850-56561245	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:56561000-56561150	HEK293	kidney:	n/a	n/a
6	CTCF	chr10:56560940-56561122	GM12878	blood:	n/a	n/a
7	CTCF	chr10:56560880-56561030	GM12864	blood:	n/a	n/a
8	CTCF	chr10:56561040-56561190	HCM	heart:	n/a	n/a
9	CTCF	chr10:56560920-56561070	HMF	breast:	n/a	n/a
10	CTCF	chr10:56560900-56561050	BE2_C	brain:	n/a	n/a
11	CTCF	chr10:56560960-56561110	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr10:56560760-56560910	HAc	cerebellar:	n/a	n/a
13	CTCF	chr10:56560840-56560990	GM12869	blood:	n/a	n/a
14	CTCF	chr10:56560941-56561105	GM13977	blood:	n/a	n/a
15	CTCF	chr10:56560960-56561110	HMEC	breast:	n/a	n/a
16	CTCF	chr10:56560940-56561090	GM12801	blood:	n/a	n/a
17	CTCF	chr10:56560980-56561130	HepG2	liver:	n/a	n/a
18	CTCF	chr10:56560940-56561090	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr10:56560880-56561030	GM12867	blood:	n/a	n/a
20	CTCF	chr10:56560900-56561050	GM12874	blood:	n/a	n/a
21	CTCF	chr10:56560898-56561194	NHEK	skin:	n/a	n/a
22	CTCF	chr10:56560920-56561070	AG04450	lung:	n/a	n/a
23	CTCF	chr10:56560980-56561130	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr10:56560980-56561130	NHEK	skin:	n/a	n/a
25	CTCF	chr10:56560920-56561070	HEK293	kidney:	n/a	n/a
26	CTCF	chr10:56560820-56560970	HCM	heart:	n/a	n/a
27	CTCF	chr10:56560865-56561216	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:56560982-56561080	Fibrobl	skin:	n/a	n/a
29	CTCF	chr10:56560895-56561098	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr10:56560920-56561070	GM12875	blood:	n/a	n/a
31	CTCF	chr10:56560836-56561223	GM12878	blood:	n/a	n/a
32	CTCF	chr10:56560920-56561070	GM12872	blood:	n/a	n/a
33	CTCF	chr10:56561050-56561120	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:56560917-56561164	LNCaP	prostate:	n/a	n/a
35	CTCF	chr10:56561000-56561150	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr10:56560960-56561110	NHEK	skin:	n/a	n/a
37	CTCF	chr10:56560980-56561130	GM12874	blood:	n/a	n/a
38	CTCF	chr10:56560940-56561090	HMF	breast:	n/a	n/a
39	CTCF	chr10:56560940-56561090	BJ	skin:	n/a	n/a
40	CTCF	chr10:56560960-56561110	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr10:56560980-56561130	HRE	kidney:	n/a	n/a
42	CTCF	chr10:56560960-56561110	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr10:56560900-56561050	AG04449	skin:	n/a	n/a
44	CTCF	chr10:56560925-56561144	LNCaP	prostate:	n/a	n/a
45	CTCF	chr10:56560960-56561110	NB4	blood:	n/a	n/a
46	CTCF	chr10:56560977-56561152	MCF-7	breast:	n/a	n/a
47	CTCF	chr10:56560920-56561070	GM12873	blood:	n/a	n/a
48	CTCF	chr10:56560940-56561090	HRE	kidney:	n/a	n/a
49	CTCF	chr10:56560980-56561130	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr10:56560980-56561130	AG09319	gingival:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:56561213-56561263	GM12891	blood:	n/a
2	chr10:56561213-56561263	GM12891	blood:	n/a
3	chr10:56560945-56560995	NB4	blood:	n/a
4	chr10:56560945-56560995	BE2_C	brain:	n/a
5	chr10:56561213-56561263	HEEpiC	esophagus:	n/a
6	chr10:56561134-56561184	GM06990	blood:	n/a
7	chr10:56561096-56561146	HCPEpiC	choroid plexus:	n/a
8	chr10:56561213-56561263	HRPEpiC	eye:	n/a
9	chr10:56560945-56560995	PrEC	prostate:	n/a
10	chr10:56561134-56561184	ProgFib	skin:	n/a
11	chr10:56561124-56561174	HEK293	kidney:	embryo
12	chr10:56561134-56561184	SK-N-SH	brain:	n/a
13	chr10:56560945-56560995	GM12891	blood:	n/a
14	chr10:56561543-56561593	SAEC	small airway:	n/a
15	chr10:56561096-56561146	AG10803	skin:	n/a
16	chr10:56561124-56561174	GM12878	blood:	n/a
17	chr10:56561213-56561263	HRCEpiC	kidney:	n/a
18	chr10:56561096-56561146	HMEC	breast:	n/a
19	chr10:56561096-56561146	BJ	skin:	n/a
20	chr10:56561543-56561593	RPTEC	kidney:	n/a
21	chr10:56560945-56560995	SAEC	small airway:	n/a
22	chr10:56561213-56561263	U87	brain:	n/a
23	chr10:56561124-56561174	PrEC	prostate:	n/a
24	chr10:56561543-56561593	ProgFib	skin:	n/a
25	chr10:56561134-56561184	H1-hESC	embryonic stem cell:	embryo
26	chr10:56561213-56561263	SK-N-SH_RA	brain:	n/a
27	chr10:56561124-56561174	HNPCEpiC	eye:	n/a
28	chr10:56561134-56561184	GM19239	blood:	n/a
29	chr10:56561543-56561593	AG09319	gingival:	n/a
30	chr10:56561134-56561184	CMK	blood:	n/a
31	chr10:56561096-56561146	GM12892	blood:	n/a
32	chr10:56561134-56561184	HIPEpiC	eye:	n/a
33	chr10:56561124-56561174	SK-N-SH_RA	brain:	n/a
34	chr10:56560945-56560995	HEK293	kidney:	embryo
35	chr10:56561213-56561263	K562	blood:	n/a
36	chr10:56561543-56561593	HCPEpiC	choroid plexus:	n/a
37	chr10:56561213-56561263	HEK293	kidney:	embryo
38	chr10:56561213-56561263	HRE	kidney:	n/a
39	chr10:56561124-56561174	GM19239	blood:	n/a
40	chr10:56561124-56561174	AG10803	skin:	n/a
41	chr10:56561096-56561146	RPTEC	kidney:	n/a
42	chr10:56561096-56561146	BE2_C	brain:	n/a
43	chr10:56561096-56561146	HRE	kidney:	n/a
44	chr10:56561213-56561263	AG09309	skin:	n/a
45	chr10:56561096-56561146	GM19239	blood:	n/a
46	chr10:56561096-56561146	CMK	blood:	n/a
47	chr10:56561543-56561593	HIPEpiC	eye:	n/a
48	chr10:56561124-56561174	CMK	blood:	n/a
49	chr10:56561134-56561184	HepG2	liver:	n/a
50	chr10:56560945-56560995	CMK	blood:	n/a

No data

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

Extended variants
information (count: 568 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572944589	chr10:56548821-56548822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73268227	chr10:56548831-56548832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530118644	chr10:56548848-56548849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61483773	chr10:56548849-56548850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527417246	chr10:56548870-56548871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566960739	chr10:56548931-56548932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183796398	chr10:56548937-56548938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559365790	chr10:56548944-56548945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60292763	chr10:56548980-56548981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114111711	chr10:56548989-56548990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145994068	chr10:56549182-56549183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs68010557	chr10:56549193-56549194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554860914	chr10:56549257-56549258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533157704	chr10:56549265-56549266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567674243	chr10:56549335-56549336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186650073	chr10:56549347-56549348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139376880	chr10:56549354-56549355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576514921	chr10:56549372-56549373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539547986	chr10:56549425-56549426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141840788	chr10:56549463-56549464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143799510	chr10:56549467-56549468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76846943	chr10:56549491-56549492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567317154	chr10:56549544-56549545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561563034	chr10:56549573-56549574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575247877	chr10:56549632-56549633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192381193	chr10:56549652-56549653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78349255	chr10:56549712-56549713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183703371	chr10:56549734-56549735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148092555	chr10:56549735-56549736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186824651	chr10:56549738-56549739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531539397	chr10:56549743-56549744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548132970	chr10:56549819-56549820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536357990	chr10:56549826-56549827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61126628	chr10:56549874-56549875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191608611	chr10:56549875-56549876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182265008	chr10:56549893-56549894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367642257	chr10:56549951-56549952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549210941	chr10:56549962-56549963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187307192	chr10:56549984-56549985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113343181	chr10:56549992-56549993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539127128	chr10:56550031-56550032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556226395	chr10:56550056-56550057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576101897	chr10:56550075-56550076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111869933	chr10:56550101-56550102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111680807	chr10:56550122-56550123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112235935	chr10:56550123-56550124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34473599	chr10:56550125-56550126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369977257	chr10:56550131-56550132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141815588	chr10:56550174-56550175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191706573	chr10:56550280-56550281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56548800-56549400	Enhancers	Fetal Lung	lung
2	chr10:56549400-56554400	Weak transcription	Fetal Lung	lung
3	chr10:56552800-56553200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:56553200-56556800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:56554600-56559200	Weak transcription	Fetal Lung	lung
6	chr10:56556400-56557000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:56556600-56557000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:56556600-56557000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:56556600-56557200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:56556600-56557200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:56556600-56558600	Enhancers	HUVEC	blood vessel
12	chr10:56556800-56557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr10:56556800-56557400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:56556800-56557600	Enhancers	NH-A	brain
15	chr10:56556800-56558200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:56557000-56558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:56557000-56560800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:56557200-56557800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:56557200-56560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:56557400-56557600	Enhancers	NHEK	skin
21	chr10:56557400-56557800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:56557400-56557800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:56557400-56558200	Enhancers	HMEC	breast
24	chr10:56557600-56558000	Flanking Active TSS	NH-A	brain
25	chr10:56557600-56558000	Flanking Active TSS	NHEK	skin
26	chr10:56557800-56558000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:56558000-56558200	Enhancers	NH-A	brain
28	chr10:56558000-56561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:56558200-56561000	Weak transcription	NH-A	brain
30	chr10:56558400-56560400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:56559200-56560400	Enhancers	Fetal Lung	lung
32	chr10:56559200-56561400	Active TSS	Fetal Kidney	kidney
33	chr10:56559800-56560000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr10:56559800-56561000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:56560200-56561400	Active TSS	Brain Hippocampus Middle	brain
36	chr10:56560400-56560800	Active TSS	Fetal Lung	lung
37	chr10:56560400-56561200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:56560400-56561400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:56560400-56561400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:56560600-56561000	Active TSS	Fetal Brain Female	brain
41	chr10:56560600-56561000	Active TSS	Right Atrium	heart
42	chr10:56560600-56561200	Active TSS	Brain Cingulate Gyrus	brain
43	chr10:56560600-56561400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:56560600-56561400	Active TSS	Brain Anterior Caudate	brain
45	chr10:56560600-56561400	Enhancers	Brain Germinal Matrix	brain
46	chr10:56560600-56561400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:56560800-56561000	Active TSS	Stomach Smooth Muscle	stomach
48	chr10:56560800-56561200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:56560800-56561200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:56560800-56561200	Active TSS	Brain Angular Gyrus	brain

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