Variant report

Variant	esv3340028
Chromosome Location	chr10:714052-718350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:718041-718363	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:716032-716319	GM19239	blood:	n/a	n/a
3	EP300	chr10:715741-715787	K562	blood:	n/a	n/a
4	JUN	chr10:715999-716191	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr10:715870-716456	U2OS	brain:	n/a	n/a
6	KAP1	chr10:713008-714600	U2OS	brain:	n/a	n/a
7	MAX	chr10:715936-716442	H1-hESC	embryonic stem cell:	n/a	chr10:716135-716145 chr10:716371-716380
8	MAX	chr10:716019-716325	NB4	blood:	n/a	chr10:716135-716145
9	MXI1	chr10:715950-716300	HepG2	liver:	n/a	n/a
10	MYC	chr10:716119-716265	MCF-7	breast:	n/a	chr10:716135-716145
11	MYC	chr10:716080-716270	MCF-7	breast:	n/a	chr10:716135-716145
12	MYC	chr10:716081-716251	HUVEC	blood vessel:	n/a	chr10:716135-716145
13	NR2C2	chr10:715988-716367	GM12878	blood:	n/a	n/a
14	NR3C1	chr10:717225-717972	A549	lung:	n/a	n/a
15	PAX5	chr10:717220-717763	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:716090-716307	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:713905-714580	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:715974-716451	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr10:715831-716473	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr10:716031-716332	A549	lung:	n/a	n/a
21	POLR2A	chr10:717212-717809	A549	lung:	n/a	n/a
22	POLR2A	chr10:713541-714399	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:716059-716299	Gliobla	brain:	n/a	n/a
24	POLR2A	chr10:715102-715151	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr10:717199-717861	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr10:717203-717863	PANC-1	pancreas:	n/a	n/a
27	REST	chr10:717201-717778	U87	brain:	n/a	n/a
28	RFX5	chr10:714986-715025	HepG2	liver:	n/a	n/a
29	SUZ12	chr10:715990-716336	H1-hESC	embryonic stem cell:	n/a	n/a
30	SUZ12	chr10:713484-714088	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB33	chr10:717547-718006	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:717486-717536	HAEpiC	amniotic membrane:	n/a
2	chr10:717486-717536	HCPEpiC	choroid plexus:	n/a
3	chr10:717486-717536	SKMC	muscle:	n/a
4	chr10:717091-717141	HL-60	blood:	n/a
5	chr10:716157-716207	SK-N-MC	brain:	n/a
6	chr10:716157-716207	GM06990	blood:	n/a
7	chr10:716157-716207	ovcar-3	ovarian:	n/a
8	chr10:717486-717536	BJ	skin:	n/a
9	chr10:716157-716207	AG04450	lung:	fetal
10	chr10:717091-717141	Hepatocyte	liver:	n/a
11	chr10:717486-717536	GM19239	blood:	n/a
12	chr10:717486-717536	NH-A	brain:	n/a
13	chr10:717486-717536	LNCaP	prostate:	n/a
14	chr10:716157-716207	NHDF-neo	bronchial:	n/a
15	chr10:717091-717141	ovcar-3	ovarian:	n/a
16	chr10:717091-717141	AG09319	gingival:	n/a
17	chr10:716157-716207	Caco-2	colon:	n/a
18	chr10:717091-717141	MCF-7	breast:	n/a
19	chr10:717486-717536	T-47D	breast:	n/a
20	chr10:716157-716207	ECC-1	luminal epithelium:	n/a
21	chr10:717486-717536	HUVEC	blood vessel:	n/a
22	chr10:716157-716207	GM12878	blood:	n/a
23	chr10:717486-717536	BE2_C	brain:	n/a
24	chr10:716157-716207	HRCEpiC	kidney:	n/a
25	chr10:716157-716207	K562	blood:	n/a
26	chr10:716157-716207	NHBE	bronchial:	n/a
27	chr10:717091-717141	HCF	heart:	n/a
28	chr10:717091-717141	HIPEpiC	eye:	n/a
29	chr10:716157-716207	BE2_C	brain:	n/a
30	chr10:716157-716207	HepG2	liver:	n/a
31	chr10:717486-717536	AG09319	gingival:	n/a
32	chr10:717486-717536	HNPCEpiC	eye:	n/a
33	chr10:716157-716207	BJ	skin:	n/a
34	chr10:717091-717141	HMEC	breast:	n/a
35	chr10:716157-716207	MCF-7	breast:	n/a
36	chr10:717091-717141	PANC-1	pancreas:	n/a
37	chr10:717091-717141	HRCEpiC	kidney:	n/a
38	chr10:717486-717536	ECC-1	luminal epithelium:	n/a
39	chr10:717486-717536	CMK	blood:	n/a
40	chr10:717091-717141	Jurkat	blood:	n/a
41	chr10:716157-716207	CMK	blood:	n/a
42	chr10:717486-717536	HMEC	breast:	n/a
43	chr10:716157-716207	HUVEC	blood vessel:	n/a
44	chr10:717091-717141	GM12878	blood:	n/a
45	chr10:717486-717536	RPTEC	kidney:	n/a
46	chr10:717091-717141	AoSMC	blood vessel:	n/a
47	chr10:717091-717141	NHBE	bronchial:	n/a
48	chr10:717091-717141	MCF10A-Er-Src	breast:	n/a
49	chr10:717091-717141	HRPEpiC	eye:	n/a
50	chr10:717091-717141	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:583403..585208-chr10:714450..715956,2	K562	blood:
2	chr10:717115..720273-chr10:724564..727281,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-5	chr10:714400-715521	ENSG00000272992.1

No data

Variant related genes	Relation type
ENSG00000272992	TF binding region
ENSG00000272992	CpG island

Extended variants
information (count: 265 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534343063	chr10:714100-714101	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568992352	chr10:714118-714119	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553984664	chr10:714125-714126	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574510960	chr10:714137-714138	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576797807	chr10:714148-714149	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545809049	chr10:714149-714150	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558414004	chr10:714156-714157	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148116286	chr10:714168-714169	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577512958	chr10:714180-714181	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575187387	chr10:714187-714188	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544071513	chr10:714197-714198	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111164634	chr10:714199-714200	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563111075	chr10:714202-714203	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529856197	chr10:714208-714209	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs117793933	chr10:714219-714220	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561626291	chr10:714229-714230	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560314809	chr10:714232-714233	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532112520	chr10:714239-714240	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368012558	chr10:714242-714243	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552238338	chr10:714262-714263	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142226039	chr10:714283-714284	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569538917	chr10:714286-714287	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184184803	chr10:714334-714335	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569550856	chr10:714348-714349	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532080511	chr10:714362-714363	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548487994	chr10:714380-714381	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568600766	chr10:714398-714399	Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11253311	chr10:714404-714405	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568398205	chr10:714421-714422	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
30	rs376937335	chr10:714426-714427	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
31	rs199799529	chr10:714430-714431	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
32	rs576719025	chr10:714438-714439	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
33	rs547118040	chr10:714477-714478	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
34	rs566814569	chr10:714500-714501	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561763990	chr10:714504-714505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
36	rs532438879	chr10:714513-714514	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
37	rs12243973	chr10:714535-714536	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114276695	chr10:714536-714537	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
39	rs564134446	chr10:714542-714543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
40	rs188734818	chr10:714560-714561	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
41	rs556183141	chr10:714608-714609	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs561492704	chr10:714613-714614	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs56128267	chr10:714645-714646	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs540867937	chr10:714692-714693	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575178050	chr10:714698-714699	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181247604	chr10:714716-714717	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs4881503	chr10:714760-714761	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147786049	chr10:714819-714820	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs184631082	chr10:714826-714827	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs560276002	chr10:714886-714887	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:708400-716000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:708400-716000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:708400-716000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:709200-716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:709800-716000	Weak transcription	Spleen	Spleen
7	chr10:710200-723800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:711000-718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:711600-716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:712000-714200	Enhancers	Right Ventricle	heart
11	chr10:712000-714400	Enhancers	Pancreas	Pancrea
12	chr10:712000-714800	Weak transcription	Stomach Mucosa	stomach
13	chr10:712000-716000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:712000-723600	Weak transcription	Aorta	Aorta
15	chr10:712000-723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:712200-714800	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:712200-715000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:712200-725600	Weak transcription	Fetal Intestine Small	intestine
19	chr10:712400-715200	Weak transcription	Lung	lung
20	chr10:712400-715800	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:712800-715800	Weak transcription	NHLF	lung
22	chr10:712800-716000	Enhancers	Brain Hippocampus Middle	brain
23	chr10:712800-726000	Weak transcription	Fetal Stomach	stomach
24	chr10:713000-714800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:713000-716400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:713000-716400	Enhancers	Stomach Smooth Muscle	stomach
27	chr10:713200-714400	Enhancers	Gastric	stomach
28	chr10:713200-714600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:713200-715400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:713200-715400	Enhancers	Psoas Muscle	Psoas
31	chr10:713200-716400	Enhancers	Brain Cingulate Gyrus	brain
32	chr10:713200-716400	Enhancers	Ovary	ovary
33	chr10:713400-714200	Genic enhancers	Brain Substantia Nigra	brain
34	chr10:713400-714600	Enhancers	Brain Germinal Matrix	brain
35	chr10:713400-714600	ZNF genes & repeats	Fetal Kidney	kidney
36	chr10:713400-714800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:713400-716000	Enhancers	Colon Smooth Muscle	Colon
38	chr10:713400-716400	Enhancers	Brain Anterior Caudate	brain
39	chr10:713400-728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:713600-714200	Genic enhancers	Brain Angular Gyrus	brain
41	chr10:713600-714400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:713600-714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:713600-714600	Transcr. at gene 5' and 3'	Fetal Lung	lung
44	chr10:713800-714600	ZNF genes & repeats	Fetal Heart	heart
45	chr10:714000-714200	Transcr. at gene 5' and 3'	Fetal Brain Male	brain
46	chr10:714000-714800	Weak transcription	Esophagus	oesophagus
47	chr10:714000-714800	Weak transcription	Left Ventricle	heart
48	chr10:714000-716000	Weak transcription	Fetal Brain Female	brain
49	chr10:714000-716400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:714000-719400	Weak transcription	Right Atrium	heart

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