Variant report

Variant	nsv437674
Chromosome Location	chr10:54787062-54793330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:54789662-54789889	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:54790215-54790565	IMR90	lung:	n/a	n/a
3	CHD2	chr10:54789549-54789899	GM12878	blood:	n/a	n/a
4	CTCF	chr10:54788549-54788553	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr10:54788534-54788565	GM19240	blood:	n/a	n/a
6	CTCF	chr10:54788501-54788615	GM19238	blood:	n/a	n/a
7	CTCF	chr10:54788566-54788619	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr10:54788534-54788584	HepG2	liver:	n/a	n/a
9	E2F6	chr10:54789184-54790029	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr10:54789198-54789460	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr10:54789785-54789872	GM12878	blood:	n/a	n/a
12	EP300	chr10:54789557-54790279	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr10:54789652-54789956	GM12878	blood:	n/a	n/a
14	EP300	chr10:54789684-54789996	GM12878	blood:	n/a	n/a
15	FOS	chr10:54790236-54790505	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:54790236-54790507	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr10:54790238-54790506	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:54790145-54790652	HUVEC	blood vessel:	n/a	n/a
19	FOSL2	chr10:54790315-54790639	SK-N-SH	brain:	n/a	n/a
20	FOXA1	chr10:54789948-54790202	HepG2	liver:	n/a	n/a
21	FOXA1	chr10:54789923-54790210	T-47D	breast:	n/a	n/a
22	FOXA1	chr10:54789784-54790225	T-47D	breast:	n/a	n/a
23	FOXA1	chr10:54789951-54790288	HepG2	liver:	n/a	n/a
24	GATA2	chr10:54789834-54790481	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr10:54789458-54790343	MCF-7	breast:	n/a	chr10:54790020-54790028
26	GATA3	chr10:54789787-54790281	T-47D	breast:	n/a	chr10:54790020-54790028
27	GATA3	chr10:54789712-54790231	T-47D	breast:	n/a	chr10:54790020-54790028
28	GATA3	chr10:54789467-54790188	MCF-7	breast:	n/a	chr10:54790020-54790028
29	GATA3	chr10:54792175-54792748	MCF-7	breast:	n/a	n/a
30	IKZF1	chr10:54789618-54789877	GM12878	blood:	n/a	n/a
31	IKZF1	chr10:54790308-54790506	GM12878	blood:	n/a	n/a
32	JUND	chr10:54792324-54792499	HepG2	liver:	n/a	n/a
33	MAFK	chr10:54787560-54787571	IMR90	lung:	n/a	n/a
34	MAX	chr10:54789769-54789774	GM12878	blood:	n/a	n/a
35	MAX	chr10:54789498-54790086	ECC-1	luminal epithelium:	n/a	n/a
36	PAX5	chr10:54789707-54789922	GM12878	blood:	n/a	n/a
37	PAX5	chr10:54789794-54789966	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:54790309-54790344	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr10:54788765-54788837	GM12878	blood:	n/a	n/a
40	POU2F2	chr10:54790213-54790629	GM12878	blood:	n/a	n/a
41	RCOR1	chr10:54789686-54789749	GM12878	blood:	n/a	n/a
42	RFX5	chr10:54789784-54789857	GM12878	blood:	n/a	n/a
43	RUNX3	chr10:54789546-54789946	GM12878	blood:	n/a	n/a
44	RUNX3	chr10:54789513-54789941	GM12878	blood:	n/a	n/a
45	SP1	chr10:54789889-54790279	HepG2	liver:	n/a	n/a
46	SPI1	chr10:54790171-54790690	GM12878	blood:	n/a	n/a
47	SPI1	chr10:54790296-54790553	GM12878	blood:	n/a	n/a
48	SPI1	chr10:54790268-54790488	GM12891	blood:	n/a	n/a
49	SPI1	chr10:54790291-54790562	GM12891	blood:	n/a	n/a
50	STAT3	chr10:54790197-54790595	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54782310..54784916-chr10:54787401..54789318,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-2	chr10:54789671-54789855	XLOC_008826
2	lnc-MBL2-2	chr10:54789671-54789810	NONHSAT013446
3	lnc-MBL2-2	chr10:54789652-54790030	XLOC_008826
4	lnc-MBL2-2	chr10:54789671-54789884	XLOC_008826

No data

Variant related genes	Relation type
SNRPEP8	TF binding region

Extended variants
information (count: 243 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7919890	chr10:54787062-54787063	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533215995	chr10:54787134-54787135	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549727646	chr10:54787147-54787148	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191687583	chr10:54787216-54787217	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376830193	chr10:54787223-54787224	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549131564	chr10:54787228-54787229	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565768969	chr10:54787344-54787345	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12781802	chr10:54787441-54787442	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534650770	chr10:54787450-54787451	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12774464	chr10:54787457-54787458	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12775982	chr10:54787460-54787461	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12774477	chr10:54787476-54787477	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369302866	chr10:54787488-54787489	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs57133105	chr10:54787497-54787498	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183881856	chr10:54787506-54787507	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12782001	chr10:54787518-54787519	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575299954	chr10:54787559-54787560	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148653167	chr10:54787581-54787582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141348971	chr10:54787586-54787587	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557350293	chr10:54787621-54787622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188825717	chr10:54787682-54787683	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544306213	chr10:54787718-54787719	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536439910	chr10:54787736-54787737	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs193296965	chr10:54787755-54787756	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1917193	chr10:54787838-54787839	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545012636	chr10:54787855-54787856	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150809758	chr10:54787882-54787883	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574883955	chr10:54787885-54787886	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543725612	chr10:54787903-54787904	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2243543	chr10:54787935-54787936	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529140263	chr10:54787965-54787966	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2384104	chr10:54787991-54787992	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111401590	chr10:54788057-54788058	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537506483	chr10:54788060-54788061	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs71490938	chr10:54788067-54788068	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144007052	chr10:54788093-54788094	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182118748	chr10:54788116-54788117	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536628592	chr10:54788255-54788256	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146415850	chr10:54788259-54788260	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548601671	chr10:54788260-54788261	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs1917192	chr10:54788265-54788266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536454238	chr10:54788267-54788268	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530975919	chr10:54788315-54788316	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553113088	chr10:54788347-54788348	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186767562	chr10:54788398-54788399	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539097601	chr10:54788431-54788432	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558758183	chr10:54788454-54788455	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7068047	chr10:54788458-54788459	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544268913	chr10:54788487-54788488	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563617874	chr10:54788488-54788489	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54783400-54789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:54783600-54789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:54784800-54789600	Weak transcription	Lung	lung
4	chr10:54785200-54789400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:54785200-54789400	Weak transcription	Pancreas	Pancrea
6	chr10:54785200-54789400	Weak transcription	NHEK	skin
7	chr10:54785200-54789600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:54785200-54789600	Weak transcription	Hela-S3	cervix
9	chr10:54785200-54789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:54785400-54787200	Enhancers	Fetal Intestine Small	intestine
11	chr10:54785400-54787600	Enhancers	Fetal Intestine Large	intestine
12	chr10:54785400-54789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:54785400-54789600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:54785400-54789600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:54785400-54789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:54785600-54789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:54785600-54789800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:54785800-54787400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr10:54785800-54789200	Weak transcription	HUVEC	blood vessel
20	chr10:54785800-54789200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:54785800-54789400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:54785800-54789400	Weak transcription	GM12878-XiMat	blood
23	chr10:54785800-54789800	Weak transcription	Fetal Lung	lung
24	chr10:54786000-54789200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr10:54786000-54789200	Weak transcription	Placenta	Placenta
26	chr10:54786000-54789400	Weak transcription	HepG2	liver
27	chr10:54786000-54789600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:54786000-54789800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:54786000-54790400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:54786400-54789400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:54786400-54789400	Weak transcription	Stomach Mucosa	stomach
32	chr10:54786600-54788200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr10:54787000-54789600	Active TSS	Fetal Kidney	kidney
34	chr10:54787400-54789600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:54787600-54789200	Weak transcription	Fetal Intestine Large	intestine
36	chr10:54788200-54789600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:54788400-54789400	Weak transcription	Fetal Stomach	stomach
38	chr10:54789000-54790000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:54789000-54790200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:54789200-54789400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:54789200-54789600	Enhancers	HUVEC	blood vessel
42	chr10:54789200-54789800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:54789200-54789800	Enhancers	Esophagus	oesophagus
44	chr10:54789200-54790000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:54789200-54790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:54789200-54791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:54789200-54791000	Enhancers	Placenta	Placenta
48	chr10:54789200-54791200	Enhancers	Fetal Intestine Large	intestine
49	chr10:54789200-54792000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:54789400-54789800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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