Variant report

Variant	nsv947891
Chromosome Location	chr10:43299039-43319274
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	BCL11A	chr10:43312407-43312659	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:43311756-43311956	IMR90	lung:	n/a	n/a
3	CEBPB	chr10:43311769-43311967	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr10:43311809-43311969	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:43318800-43318883	GM10266	blood:	n/a	n/a
6	CTCF	chr10:43310136-43310201	GM13977	blood:	n/a	n/a
7	EBF1	chr10:43307960-43308173	GM12878	blood:	n/a	n/a
8	ELK1	chr10:43306190-43306358	K562	blood:	n/a	n/a
9	EP300	chr10:43315620-43315976	GM12878	blood:	n/a	n/a
10	EP300	chr10:43312407-43312653	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr10:43312350-43312699	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOSL2	chr10:43307899-43308399	HepG2	liver:	n/a	n/a
13	FOSL2	chr10:43307441-43307809	HepG2	liver:	n/a	chr10:43307658-43307669
14	FOSL2	chr10:43307477-43307761	HepG2	liver:	n/a	chr10:43307658-43307669
15	FOSL2	chr10:43313271-43313577	HepG2	liver:	n/a	n/a
16	FOSL2	chr10:43312017-43312323	HepG2	liver:	n/a	chr10:43312275-43312287
17	FOXA1	chr10:43308613-43309079	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:43313295-43313820	HepG2	liver:	n/a	n/a
19	GABPA	chr10:43307944-43308092	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr10:43315760-43315838	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr10:43313398-43313599	Hela-S3	cervix:	n/a	n/a
22	GATA2	chr10:43313455-43313709	K562	blood:	n/a	n/a
23	GATA3	chr10:43300702-43300879	SH-SY5Y	brain:	n/a	n/a
24	HDAC2	chr10:43312392-43312565	H1-hESC	embryonic stem cell:	n/a	n/a
25	HDAC2	chr10:43312377-43312683	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr10:43310088-43310364	K562	blood:	n/a	n/a
27	IKZF1	chr10:43305375-43305576	GM12878	blood:	n/a	n/a
28	JUND	chr10:43312997-43313104	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr10:43312080-43312262	HepG2	liver:	n/a	n/a
30	JUND	chr10:43307529-43307692	HepG2	liver:	n/a	n/a
31	JUND	chr10:43310062-43310270	HepG2	liver:	n/a	n/a
32	JUND	chr10:43318780-43318946	HepG2	liver:	n/a	n/a
33	JUND	chr10:43307495-43307728	HepG2	liver:	n/a	n/a
34	JUND	chr10:43307934-43308401	HepG2	liver:	n/a	n/a
35	JUND	chr10:43311925-43311935	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr10:43313263-43313615	HepG2	liver:	n/a	n/a
37	JUND	chr10:43311082-43311256	HepG2	liver:	n/a	n/a
38	JUND	chr10:43313439-43313563	HepG2	liver:	n/a	n/a
39	MAFF	chr10:43309877-43310150	HepG2	liver:	n/a	chr10:43309988-43310006
40	MAFF	chr10:43309928-43310059	K562	blood:	n/a	chr10:43309988-43310006
41	MAFF	chr10:43302758-43302946	HepG2	liver:	n/a	chr10:43302830-43302848
42	MAFK	chr10:43309812-43310128	IMR90	lung:	n/a	chr10:43309974-43309989 chr10:43309990-43310005
43	MAFK	chr10:43309888-43310088	HepG2	liver:	n/a	chr10:43309974-43309989 chr10:43309990-43310005
44	MAFK	chr10:43302711-43302904	HepG2	liver:	n/a	chr10:43302832-43302847
45	MAFK	chr10:43309860-43310153	HepG2	liver:	n/a	chr10:43309974-43309989 chr10:43309990-43310005
46	MAFK	chr10:43302719-43302938	HepG2	liver:	n/a	chr10:43302832-43302847
47	MAFK	chr10:43302689-43302877	H1-hESC	embryonic stem cell:	n/a	chr10:43302832-43302847
48	MAX	chr10:43311930-43312130	H1-hESC	embryonic stem cell:	n/a	n/a
49	MEF2A	chr10:43301249-43301668	GM12878	blood:	n/a	n/a
50	MXI1	chr10:43311922-43312122	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43283711..43286231-chr10:43299028..43301664,2	K562	blood:
2	chr10:43291799..43294495-chr10:43296598..43299321,2	MCF-7	breast:
3	chr10:43278278..43279935-chr10:43297692..43300575,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RET-4	chr10:43306826-43306918	l_299_chr10:43299976-43307499_brain
2	lnc-RET-4	chr10:43299977-43300625	l_299_chr10:43299976-43307499_brain
3	lnc-RET-4	chr10:43306923-43307499	l_299_chr10:43299976-43307499_brain

Variant related genes	Relation type
ENSG00000238732	TF binding region

Extended variants
information (count: 866 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550263199	chr10:43299043-43299044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115801138	chr10:43299083-43299084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6593495	chr10:43299108-43299109	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs577026687	chr10:43299146-43299147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544391131	chr10:43299150-43299151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7086238	chr10:43299152-43299153	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190678713	chr10:43299209-43299210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180827752	chr10:43299210-43299211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184672005	chr10:43299211-43299212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189483760	chr10:43299212-43299213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375251784	chr10:43299265-43299266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540302876	chr10:43299280-43299281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145177013	chr10:43299295-43299296	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76088405	chr10:43299302-43299303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530441806	chr10:43299338-43299339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374768628	chr10:43299340-43299341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549946028	chr10:43299434-43299435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572637417	chr10:43299455-43299456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61844815	chr10:43299478-43299479	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181391635	chr10:43299493-43299494	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111794501	chr10:43299518-43299519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572657720	chr10:43299531-43299532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534777064	chr10:43299575-43299576	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2142985	chr10:43299639-43299640	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557563136	chr10:43299646-43299647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560463895	chr10:43299717-43299718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116892611	chr10:43299725-43299726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185772040	chr10:43299805-43299806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556391701	chr10:43299819-43299820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574530527	chr10:43299862-43299863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148672815	chr10:43299890-43299891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536269774	chr10:43299892-43299893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188969460	chr10:43299913-43299914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527612149	chr10:43299918-43299919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181613593	chr10:43299930-43299931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564174018	chr10:43299931-43299932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531682816	chr10:43299956-43299957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574343276	chr10:43299958-43299959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374988189	chr10:43299975-43299976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2419111	chr10:43300070-43300071	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142154041	chr10:43300097-43300098	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs151187868	chr10:43300119-43300120	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs187006819	chr10:43300158-43300159	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs74719123	chr10:43300178-43300179	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200659179	chr10:43300179-43300180	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs566332727	chr10:43300200-43300201	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs540162672	chr10:43300221-43300222	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs558579610	chr10:43300224-43300225	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs570512166	chr10:43300280-43300281	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576677132	chr10:43300282-43300283	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:902 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43299400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:43279800-43299600	Strong transcription	Fetal Muscle Leg	muscle
3	chr10:43279800-43299600	Strong transcription	Left Ventricle	heart
4	chr10:43279800-43299600	Strong transcription	K562	blood
5	chr10:43279800-43299800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:43279800-43300200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:43279800-43300600	Strong transcription	NH-A	brain
8	chr10:43279800-43302000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:43279800-43302600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:43279800-43303400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43279800-43303400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr10:43279800-43303800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:43279800-43303800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:43279800-43305000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:43279800-43306200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:43279800-43306400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:43279800-43307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:43279800-43307800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr10:43279800-43307800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr10:43279800-43308400	Strong transcription	Fetal Intestine Large	intestine
22	chr10:43279800-43308800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:43279800-43309000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr10:43279800-43324000	Strong transcription	Liver	Liver
25	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:43280000-43299400	Strong transcription	Brain Germinal Matrix	brain
27	chr10:43280000-43299800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr10:43280000-43299800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:43280000-43300000	Strong transcription	Fetal Thymus	thymus
30	chr10:43280000-43300200	Strong transcription	Adipose Nuclei	Adipose
31	chr10:43280000-43301600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:43280000-43301800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:43280000-43301800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:43280000-43303200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:43280000-43303600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr10:43280000-43303600	Strong transcription	HSMM	muscle
37	chr10:43280000-43303600	Strong transcription	Osteobl	bone
38	chr10:43280000-43303800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:43280000-43304600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:43280000-43305000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:43280000-43305800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:43280000-43306400	Strong transcription	Placenta	Placenta
43	chr10:43280000-43306400	Strong transcription	A549	lung
44	chr10:43280000-43306800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:43280000-43309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:43280000-43310800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:43280200-43299400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:43280200-43306000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:43280200-43310600	Strong transcription	Primary T cells from cord blood	blood
50	chr10:43280800-43300200	Strong transcription	HUVEC	blood vessel

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