Variant report

Variant	nsv1051538
Chromosome Location	chr10:4274395-4291004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:4276937-4277258	K562	blood:	n/a	n/a
2	ATF3	chr10:4276995-4277163	K562	blood:	n/a	n/a
3	CBX3	chr10:4275040-4275358	HCT-116	colon:	n/a	n/a
4	CBX3	chr10:4285844-4286362	HCT-116	colon:	n/a	n/a
5	CCNT2	chr10:4276995-4277195	K562	blood:	n/a	n/a
6	CEBPB	chr10:4284004-4284995	IMR90	lung:	n/a	chr10:4284406-4284417
7	CEBPB	chr10:4285751-4286264	IMR90	lung:	n/a	n/a
8	CEBPB	chr10:4284615-4285259	HCT-116	colon:	n/a	n/a
9	CEBPB	chr10:4282886-4283178	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr10:4288948-4289680	IMR90	lung:	n/a	n/a
11	CEBPB	chr10:4285804-4286368	HCT-116	colon:	n/a	n/a
12	CEBPB	chr10:4284358-4285073	Hela-S3	cervix:	n/a	chr10:4284406-4284417
13	CEBPB	chr10:4276851-4277288	MCF-7	breast:	n/a	chr10:4277009-4277020
14	CEBPB	chr10:4282853-4283500	IMR90	lung:	n/a	n/a
15	CEBPB	chr10:4285878-4286272	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr10:4276851-4277242	K562	blood:	n/a	chr10:4277009-4277020
17	CEBPB	chr10:4276922-4277122	HepG2	liver:	n/a	chr10:4277009-4277020
18	CEBPB	chr10:4276867-4277127	A549	lung:	n/a	chr10:4277009-4277020
19	CTCF	chr10:4277020-4277170	HPF	lung:	n/a	n/a
20	CTCF	chr10:4276980-4277130	BE2_C	brain:	n/a	n/a
21	CTCF	chr10:4290801-4290982	GM19239	blood:	n/a	chr10:4290882-4290903
22	CTCF	chr10:4288900-4289050	HCFaa	heart:	n/a	n/a
23	CTCF	chr10:4276980-4277130	HL-60	blood:	n/a	n/a
24	CTCF	chr10:4277070-4277166	MCF-7	breast:	n/a	n/a
25	CTCF	chr10:4284080-4284230	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr10:4285626-4285734	A549	lung:	n/a	n/a
27	CTCF	chr10:4276980-4277130	HCT-116	colon:	n/a	n/a
28	CTCF	chr10:4277090-4277141	A549	lung:	n/a	n/a
29	CTCF	chr10:4277029-4277094	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr10:4277005-4277156	K562	blood:	n/a	n/a
31	CTCF	chr10:4288940-4289090	AG10803	skin:	n/a	n/a
32	CTCF	chr10:4277000-4277150	A549	lung:	n/a	n/a
33	CTCF	chr10:4288960-4289110	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr10:4276920-4277070	HVMF	connective:	n/a	n/a
35	CTCF	chr10:4277000-4277150	HMF	breast:	n/a	n/a
36	CTCF	chr10:4284760-4284910	AG10803	skin:	n/a	n/a
37	CTCF	chr10:4290829-4290961	GM19240	blood:	n/a	chr10:4290882-4290903
38	CTCF	chr10:4276980-4277130	HCM	heart:	n/a	n/a
39	CTCF	chr10:4276820-4276970	A549	lung:	n/a	n/a
40	CTCF	chr10:4277060-4277210	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr10:4276940-4277090	K562	blood:	n/a	n/a
42	CTCF	chr10:4277060-4277210	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:4276960-4277110	HCT-116	colon:	n/a	n/a
44	CTCF	chr10:4288900-4289050	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr10:4277000-4277150	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr10:4277000-4277150	HPF	lung:	n/a	n/a
47	CTCF	chr10:4290848-4290968	NHEK	skin:	n/a	chr10:4290882-4290903
48	CTCF	chr10:4277000-4277150	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr10:4276960-4277110	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr10:4284460-4284610	AG10803	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4280040..4281988-chr10:4283638..4285219,2	MCF-7	breast:
2	chr10:4278158..4281099-chr10:4281519..4283245,2	MCF-7	breast:
3	chr10:4280040..4281988-chr10:4283638..4285219,2	MCF-7	breast:
4	chr10:3826852..3829310-chr10:4280995..4283154,3	MCF-7	breast:
5	chr10:4275653..4277576-chr10:4279450..4282362,2	K562	blood:
6	chr10:4275653..4277576-chr10:4279450..4282362,2	K562	blood:
7	chr10:4278158..4281099-chr10:4281519..4283245,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF6-7	chr10:4286015-4286104	ENSG00000233117.2
2	lnc-KLF6-7	chr10:4285696-4285981	XLOC_008700
3	lnc-KLF6-6	chr10:4275330-4275363	l_239_chr10:4233289-4275926_adrenal
4	lnc-KLF6-6	chr10:4275142-4275301	NONHSAT011083
5	lnc-KLF6-6	chr10:4275696-4275981	NONHSAT011083
6	lnc-KLF6-6	chr10:4282814-4283144	XLOC_008701
7	lnc-KLF6-7	chr10:4285696-4285728	NONHSAT011084
8	lnc-KLF6-14	chr10:4284529-4284775	NONHSAT011085
9	lnc-KLF6-7	chr10:4285696-4285879	ENSG00000233117.2
10	lnc-KLF6-6	chr10:4275042-4275301	l_239_chr10:4233289-4275926_adrenal
11	lnc-KLF6-14	chr10:4284539-4284771	NONHSAT011086
12	lnc-KLF6-7	chr10:4285696-4285957	XLOC_008700
13	lnc-KLF6-7	chr10:4285696-4285879	NR_108040
14	lnc-KLF6-7	chr10:4277491-4277974	NONHSAT011084
15	lnc-KLF6-7	chr10:4277752-4277974	XLOC_008700
16	lnc-KLF6-7	chr10:4285142-4285301	XLOC_008700
17	lnc-KLF6-7	chr10:4286015-4286104	NR_108040
18	lnc-KLF6-7	chr10:4285696-4285835	XLOC_008700
19	lnc-KLF6-6	chr10:4273551-4275038	l_239_chr10:4233289-4275926_adrenal
20	lnc-KLF6-6	chr10:4275696-4276007	l_239_chr10:4233289-4275926_adrenal
21	lnc-KLF6-6	chr10:4275696-4275835	NONHSAT011082
22	lnc-KLF6-6	chr10:4276015-4276038	l_239_chr10:4233289-4275926_adrenal

No data

Variant related genes	Relation type
LINC00702	TF binding region
ENSG00000067082	chromatin interactions

Extended variants
information (count: 729 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534889963	chr10:4274399-4274400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs564426490	chr10:4274426-4274427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529520787	chr10:4274468-4274469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs58303728	chr10:4274473-4274474	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535619422	chr10:4274501-4274502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs540241055	chr10:4274514-4274515	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs575780177	chr10:4274550-4274551	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79294904	chr10:4274563-4274564	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557902639	chr10:4274571-4274572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs140500759	chr10:4274627-4274628	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540485180	chr10:4274654-4274655	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559089675	chr10:4274664-4274665	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529690465	chr10:4274731-4274732	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs12262827	chr10:4274736-4274737	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563383876	chr10:4274748-4274749	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs145617482	chr10:4274772-4274773	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552426191	chr10:4274786-4274787	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570629838	chr10:4274835-4274836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs146578374	chr10:4274845-4274846	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs115546602	chr10:4274851-4274852	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568400717	chr10:4274866-4274867	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535823006	chr10:4274892-4274893	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189989451	chr10:4274915-4274916	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs141284083	chr10:4274989-4274990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74497354	chr10:4275006-4275007	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs182901919	chr10:4275007-4275008	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573054405	chr10:4275012-4275013	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs77769945	chr10:4275022-4275023	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs143349459	chr10:4275042-4275043	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs574384090	chr10:4275070-4275071	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541790132	chr10:4275079-4275080	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs77121825	chr10:4275108-4275109	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs115030729	chr10:4275109-4275110	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113865406	chr10:4275162-4275163	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545876729	chr10:4275174-4275175	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531741894	chr10:4275191-4275192	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs187245084	chr10:4275213-4275214	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs567175880	chr10:4275279-4275280	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs528282699	chr10:4275288-4275289	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs371106918	chr10:4275418-4275419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546610235	chr10:4275464-4275465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7093493	chr10:4275477-4275478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529147051	chr10:4275478-4275479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192066905	chr10:4275479-4275480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550968654	chr10:4275491-4275492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184868928	chr10:4275504-4275505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551900897	chr10:4275510-4275511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77310489	chr10:4275534-4275535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7093610	chr10:4275547-4275548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539549559	chr10:4275598-4275599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4257400-4282400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:4269400-4277400	Weak transcription	Aorta	Aorta
3	chr10:4272400-4283200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:4272800-4275200	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:4274600-4274800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:4275000-4275200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
7	chr10:4275000-4277600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:4275200-4275400	ZNF genes & repeats	Colon Smooth Muscle	Colon
9	chr10:4275200-4282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:4275800-4276000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:4276200-4278400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr10:4276200-4279000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:4276200-4281400	Weak transcription	NHDF-Ad	bronchial
15	chr10:4276400-4281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:4276600-4284000	Weak transcription	Left Ventricle	heart
17	chr10:4276800-4278200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:4276800-4278400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:4277400-4277800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:4277400-4278000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:4277400-4278000	Strong transcription	Aorta	Aorta
22	chr10:4277600-4278000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:4277600-4278400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr10:4278000-4280200	Weak transcription	Aorta	Aorta
25	chr10:4278400-4282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:4279000-4279200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:4279200-4283200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:4280200-4280400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr10:4280200-4280600	ZNF genes & repeats	Aorta	Aorta
30	chr10:4280200-4282400	Weak transcription	NH-A	brain
31	chr10:4280400-4280600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:4280400-4280600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:4280400-4280600	Enhancers	Right Atrium	heart
34	chr10:4280400-4281200	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:4280600-4281200	Genic enhancers	Aorta	Aorta
36	chr10:4280600-4282400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr10:4280600-4282800	Weak transcription	Right Atrium	heart
38	chr10:4280600-4283200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:4281200-4282200	Weak transcription	Aorta	Aorta
40	chr10:4281200-4282800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:4281400-4281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:4281400-4282800	Enhancers	NHDF-Ad	bronchial
43	chr10:4281600-4282000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:4282000-4282800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:4282000-4283600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:4282000-4286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:4282200-4282600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:4282200-4282800	Active TSS	Aorta	Aorta
49	chr10:4282200-4286400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:4282400-4282800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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