Variant report

Variant	nsv540653
Chromosome Location	chr10:59200246-59366941
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	BACH1	chr10:59226296-59226323	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:59217955-59218146	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr10:59339767-59340312	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:59303700-59303728	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr10:59254315-59254530	HepG2	liver:	n/a	n/a
6	CEBPB	chr10:59208776-59208824	A549	lung:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
7	CEBPB	chr10:59232552-59232999	Hela-S3	cervix:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
8	CEBPB	chr10:59287618-59287942	HepG2	liver:	n/a	chr10:59287784-59287795
9	CEBPB	chr10:59295180-59295356	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr10:59208672-59208938	IMR90	lung:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
11	CEBPB	chr10:59278586-59278818	IMR90	lung:	n/a	chr10:59278696-59278707
12	CEBPB	chr10:59232607-59232816	HepG2	liver:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
13	CEBPB	chr10:59208678-59208892	H1-hESC	embryonic stem cell:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
14	CEBPB	chr10:59314773-59314991	HepG2	liver:	n/a	chr10:59314859-59314870
15	CEBPB	chr10:59278581-59278781	K562	blood:	n/a	chr10:59278696-59278707
16	CEBPB	chr10:59303659-59303782	HepG2	liver:	n/a	chr10:59303720-59303731
17	CEBPB	chr10:59232641-59232855	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
18	CEBPB	chr10:59333509-59333824	IMR90	lung:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
19	CEBPB	chr10:59333501-59333855	HepG2	liver:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
20	CEBPB	chr10:59333606-59333736	H1-hESC	embryonic stem cell:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333689-59333698
21	CEBPB	chr10:59254274-59254601	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr10:59278559-59278828	A549	lung:	n/a	chr10:59278696-59278707
23	CEBPB	chr10:59333509-59333854	K562	blood:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
24	CEBPB	chr10:59278572-59278868	HepG2	liver:	n/a	chr10:59278696-59278707
25	CEBPB	chr10:59208683-59208933	HepG2	liver:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
26	CEBPB	chr10:59287630-59287940	IMR90	lung:	n/a	chr10:59287784-59287795
27	CEBPB	chr10:59333510-59333801	A549	lung:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
28	CEBPB	chr10:59232622-59232926	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
29	CEBPB	chr10:59232563-59233028	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
30	CTCF	chr10:59353800-59353950	GM06990	blood:	n/a	chr10:59353908-59353929 chr10:59353913-59353931 chr10:59353914-59353930
31	CTCF	chr10:59339480-59339630	Caco-2	colon:	n/a	n/a
32	CTCF	chr10:59339812-59339966	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:59291994-59292081	GM10248	blood:	n/a	n/a
34	CTCF	chr10:59339782-59339944	K562	blood:	n/a	n/a
35	CTCF	chr10:59339678-59340083	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr10:59339760-59339910	GM12865	blood:	n/a	n/a
37	CTCF	chr10:59339717-59340011	A549	lung:	n/a	n/a
38	CTCF	chr10:59339760-59339910	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr10:59340720-59340870	NHEK	skin:	n/a	n/a
40	CTCF	chr10:59216955-59217117	K562	blood:	n/a	n/a
41	CTCF	chr10:59339840-59339990	HCT-116	colon:	n/a	n/a
42	CTCF	chr10:59339760-59339910	NHLF	lung:	n/a	n/a
43	CTCF	chr10:59353840-59353990	AoAF	blood vessel:	n/a	chr10:59353908-59353929 chr10:59353913-59353931 chr10:59353914-59353930
44	CTCF	chr10:59339800-59339950	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:59339768-59340009	A549	lung:	n/a	n/a
46	CTCF	chr10:59339820-59339970	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr10:59339794-59339947	GM10266	blood:	n/a	n/a
48	CTCF	chr10:59339753-59339982	Medullo	brain:	n/a	n/a
49	CTCF	chr10:59339780-59339930	AG04449	skin:	n/a	n/a
50	CTCF	chr10:59339800-59339950	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:59098466..59099424-chr10:59352866..59354001,3	MCF-7	breast:
2	chr10:59339470..59340339-chr10:59416624..59417445,2	MCF-7	breast:
3	chr10:59273221..59275068-chr10:59277123..59280013,2	MCF-7	breast:
4	chr10:59362467..59364719-chr10:59366088..59368086,2	K562	blood:
5	chr10:59327868..59330079-chr10:59331955..59334534,2	MCF-7	breast:
6	chr10:59339500..59340340-chr10:59912185..59913054,2	K562	blood:
7	chr10:59327868..59330079-chr10:59331955..59334534,2	MCF-7	breast:
8	chr10:59273221..59275068-chr10:59277123..59280013,2	MCF-7	breast:
9	chr10:59362467..59364719-chr10:59366088..59368086,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CISD1-6	chr10:59272917-59273185	NONHSAT013479

Variant related genes	Relation type
ENSG00000235810	TF binding region

Extended variants
information (count: 1009 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187237412	chr10:59217438-59217439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191725757	chr10:59217455-59217456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181737374	chr10:59217553-59217554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569698306	chr10:59217558-59217559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536780354	chr10:59217594-59217595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75965913	chr10:59217599-59217600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576473325	chr10:59217625-59217626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534329204	chr10:59217633-59217634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570590644	chr10:59217635-59217636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76751382	chr10:59217640-59217641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574665615	chr10:59217673-59217674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541974344	chr10:59217734-59217735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185306352	chr10:59217771-59217772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575670962	chr10:59217798-59217799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546366075	chr10:59217801-59217802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531726620	chr10:59217841-59217842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145370928	chr10:59217902-59217903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549880199	chr10:59217933-59217934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74855366	chr10:59217940-59217941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547016464	chr10:59218000-59218001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562376716	chr10:59218083-59218084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372633315	chr10:59218091-59218092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190071162	chr10:59218109-59218110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568065397	chr10:59218118-59218119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376671126	chr10:59218162-59218163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551136583	chr10:59218174-59218175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116606676	chr10:59218175-59218176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74697160	chr10:59218239-59218240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78885139	chr10:59218240-59218241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545465260	chr10:59218248-59218249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565541777	chr10:59218315-59218316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536742580	chr10:59218329-59218330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140793231	chr10:59218334-59218335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10826037	chr10:59218348-59218349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534292328	chr10:59218350-59218351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552710793	chr10:59218384-59218385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528652958	chr10:59218410-59218411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1011763	chr10:59218495-59218496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557115172	chr10:59218496-59218497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575549214	chr10:59218545-59218546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546029968	chr10:59218584-59218585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114084777	chr10:59218647-59218648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61847391	chr10:59218694-59218695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540596348	chr10:59218720-59218721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144768469	chr10:59218736-59218737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529590423	chr10:59218738-59218739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5017754	chr10:59218748-59218749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76702085	chr10:59218754-59218755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116291288	chr10:59218773-59218774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115033082	chr10:59218798-59218799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59217400-59218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:59217400-59218600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:59217600-59218200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr10:59217600-59218400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:59217800-59218200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:59217800-59218600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:59218400-59219400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:59219400-59219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:59232600-59233200	Enhancers	A549	lung
10	chr10:59232600-59234000	Enhancers	Hela-S3	cervix
11	chr10:59238800-59239000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:59239800-59241800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:59241800-59242200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:59242200-59242400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:59242400-59242800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:59242800-59243200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:59243200-59245800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:59245800-59247200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:59247200-59248800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:59266400-59267800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:59267600-59268000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:59268000-59273400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:59273600-59273800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:59322200-59322600	Enhancers	HMEC	breast
25	chr10:59334600-59336800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:59337600-59338200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:59341000-59341400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr10:59341400-59342800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr10:59342800-59343000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr10:59343000-59343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:59357200-59358200	Enhancers	Pancreatic Islets	Pancreatic Islet

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