Variant report

Variant	esv3421028
Chromosome Location	chr10:702952-707250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:705986-706335	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:705958-706431	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:705540-706018	IMR90	lung:	n/a	n/a
4	CTCF	chr10:704201-704255	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr10:704223-704291	GM10266	blood:	n/a	n/a
6	EP300	chr10:707208-707243	HepG2	liver:	n/a	n/a
7	EP300	chr10:705917-706383	GM12878	blood:	n/a	chr10:705958-705967
8	FOXA1	chr10:706863-707302	HepG2	liver:	n/a	n/a
9	FOXA1	chr10:706908-707210	HepG2	liver:	n/a	n/a
10	FOXA1	chr10:706865-707255	HepG2	liver:	n/a	n/a
11	FOXA2	chr10:706926-707176	HepG2	liver:	n/a	n/a
12	IKZF1	chr10:706284-706497	GM12878	blood:	n/a	n/a
13	IKZF1	chr10:705740-706007	GM12878	blood:	n/a	n/a
14	IRF4	chr10:705955-706476	GM12878	blood:	n/a	n/a
15	IRF4	chr10:705907-706531	GM12878	blood:	n/a	n/a
16	MAFK	chr10:706963-707163	HepG2	liver:	n/a	chr10:707046-707055
17	MAFK	chr10:706987-707143	HepG2	liver:	n/a	chr10:707046-707055
18	MAFK	chr10:705421-705896	IMR90	lung:	n/a	n/a
19	MAX	chr10:707061-707093	HepG2	liver:	n/a	n/a
20	MAX	chr10:706885-707641	HepG2	liver:	n/a	n/a
21	MYC	chr10:704010-704125	MCF-7	breast:	n/a	n/a
22	MYC	chr10:704002-704009	MCF-7	breast:	n/a	n/a
23	PAX5	chr10:705977-706326	GM12878	blood:	n/a	n/a
24	PAX5	chr10:705857-706531	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:703979-704048	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:704066-704204	MCF-7	breast:	n/a	n/a
27	POLR2A	chr10:703750-703888	MCF-7	breast:	n/a	n/a
28	POLR2A	chr10:704047-704193	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:702840-703117	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr10:705571-706796	IMR90	lung:	n/a	n/a
31	POLR2A	chr10:703909-703918	MCF-7	breast:	n/a	n/a
32	POLR2A	chr10:703574-703790	Gliobla	brain:	n/a	n/a
33	POLR2A	chr10:704863-705051	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:704734-705237	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:703922-703932	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:703987-704307	A549	lung:	n/a	n/a
37	POLR2A	chr10:707161-707252	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr10:703975-704015	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:704228-704274	MCF-7	breast:	n/a	n/a
40	POLR2A	chr10:703351-703389	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:705452-706120	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr10:706942-706962	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr10:705924-706450	GM12892	blood:	n/a	n/a
44	POLR2A	chr10:707076-707953	HepG2	liver:	n/a	n/a
45	POLR2A	chr10:703411-703472	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr10:705613-705930	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr10:704781-705340	H1-neurons	neurons:	n/a	n/a
48	POU2F2	chr10:705958-706508	GM12878	blood:	n/a	n/a
49	RCOR1	chr10:707148-707211	HepG2	liver:	n/a	n/a
50	REST	chr10:705529-706134	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:706006-706056	HIPEpiC	eye:	n/a
2	chr10:706006-706056	HL-60	blood:	n/a
3	chr10:706006-706056	AoSMC	blood vessel:	n/a
4	chr10:706006-706056	CMK	blood:	n/a
5	chr10:706006-706056	HCT-116	colon:	n/a
6	chr10:706006-706056	K562	blood:	n/a
7	chr10:706006-706056	ECC-1	luminal epithelium:	n/a
8	chr10:706006-706056	SK-N-SH_RA	brain:	n/a
9	chr10:706006-706056	NT2-D1	testis:	n/a
10	chr10:706006-706056	AG10803	skin:	n/a
11	chr10:706006-706056	SK-N-SH	brain:	n/a
12	chr10:706006-706056	GM19239	blood:	n/a
13	chr10:706006-706056	A549	lung:	n/a
14	chr10:706006-706056	SAEC	small airway:	n/a
15	chr10:706006-706056	HCPEpiC	choroid plexus:	n/a
16	chr10:706006-706056	HEEpiC	esophagus:	n/a
17	chr10:706006-706056	MCF10A-Er-Src	breast:	n/a
18	chr10:706006-706056	BE2_C	brain:	n/a
19	chr10:706006-706056	HMEC	breast:	n/a
20	chr10:706006-706056	HCF	heart:	n/a
21	chr10:706006-706056	HRPEpiC	eye:	n/a
22	chr10:706006-706056	NH-A	brain:	n/a
23	chr10:706006-706056	HNPCEpiC	eye:	n/a
24	chr10:706006-706056	Hela-S3	cervix:	n/a
25	chr10:706006-706056	PrEC	prostate:	n/a
26	chr10:706006-706056	NHDF-neo	bronchial:	n/a
27	chr10:706006-706056	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:706006-706056	PANC-1	pancreas:	n/a
29	chr10:706006-706056	SKMC	muscle:	n/a
30	chr10:706006-706056	PFSK-1	brain:	n/a
31	chr10:706006-706056	SK-N-MC	brain:	n/a
32	chr10:706006-706056	GM06990	blood:	n/a
33	chr10:706006-706056	LNCaP	prostate:	n/a
34	chr10:706006-706056	HRCEpiC	kidney:	n/a
35	chr10:706006-706056	AG04450	lung:	fetal
36	chr10:706006-706056	RPTEC	kidney:	n/a
37	chr10:706006-706056	ovcar-3	ovarian:	n/a
38	chr10:706006-706056	HEK293	kidney:	embryo
39	chr10:706006-706056	AG04449	skin:	fetal
40	chr10:706006-706056	HUVEC	blood vessel:	n/a
41	chr10:706006-706056	ProgFib	skin:	n/a
42	chr10:706006-706056	HAEpiC	amniotic membrane:	n/a
43	chr10:706006-706056	HRE	kidney:	n/a
44	chr10:706006-706056	NHBE	bronchial:	n/a
45	chr10:706006-706056	BJ	skin:	n/a
46	chr10:706006-706056	HCM	heart:	n/a
47	chr10:706006-706056	GM12878	blood:	n/a
48	chr10:706006-706056	GM12891	blood:	n/a
49	chr10:706006-706056	Caco-2	colon:	n/a
50	chr10:706006-706056	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:705629..708619-chr10:732652..734638,2	MCF-7	breast:
2	chr10:692009..694331-chr10:706518..708449,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242357	TF binding region
ENSG00000242357	CpG island

Extended variants
information (count: 171 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147575183	chr10:702981-702982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372225264	chr10:702986-702987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375309348	chr10:702995-702996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386739762	chr10:702998-702999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191467458	chr10:703000-703001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540173917	chr10:703007-703008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183612536	chr10:703012-703013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115359155	chr10:703023-703024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552370903	chr10:703039-703040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200750051	chr10:703045-703046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12772040	chr10:703050-703051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534925370	chr10:703060-703061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562408125	chr10:703082-703083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531467997	chr10:703084-703085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1869920	chr10:703151-703152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1869921	chr10:703154-703155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4082215	chr10:703191-703192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4082216	chr10:703192-703193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28723459	chr10:703228-703229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56228842	chr10:703238-703239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55789583	chr10:703240-703241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55645513	chr10:703250-703251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548205537	chr10:703262-703263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56026234	chr10:703274-703275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28673946	chr10:703324-703325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28708803	chr10:703334-703335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28528269	chr10:703336-703337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568105069	chr10:703370-703371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533780175	chr10:703372-703373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369006844	chr10:703384-703385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373593956	chr10:703395-703396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79695810	chr10:703432-703433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111164629	chr10:703467-703468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189650956	chr10:703471-703472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111170460	chr10:703489-703490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111218121	chr10:703542-703543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547727214	chr10:703551-703552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111170461	chr10:703610-703611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111170462	chr10:703636-703637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111170463	chr10:703646-703647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374230169	chr10:703682-703683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377726377	chr10:703711-703712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111164630	chr10:703763-703764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111170464	chr10:703803-703804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539614023	chr10:703914-703915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556752437	chr10:703923-703924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576439626	chr10:703958-703959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535597597	chr10:703970-703971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111045327	chr10:704031-704032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555331524	chr10:704066-704067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:691200-704200	Weak transcription	HSMM	muscle
2	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:696200-703000	Enhancers	Brain Cingulate Gyrus	brain
5	chr10:697200-704400	Weak transcription	Liver	Liver
6	chr10:697200-705200	Weak transcription	NHLF	lung
7	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:698800-704800	Weak transcription	Fetal Kidney	kidney
9	chr10:699200-706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:699200-707000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:700200-703200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:700200-704800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:700200-704800	Weak transcription	Adipose Nuclei	Adipose
14	chr10:700200-707000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:700200-708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:700400-703200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:700400-704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:700400-705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:700400-705400	Weak transcription	Colonic Mucosa	Colon
20	chr10:700600-704800	Weak transcription	Fetal Lung	lung
21	chr10:700600-704800	Weak transcription	NH-A	brain
22	chr10:700600-705200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:700600-705200	Weak transcription	HUVEC	blood vessel
24	chr10:700600-705600	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:700800-704400	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:700800-704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:700800-705400	Weak transcription	Fetal Stomach	stomach
28	chr10:701000-704000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:701200-704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:701200-704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:701200-704400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:701200-704400	Weak transcription	Fetal Heart	heart
33	chr10:701200-704400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:701200-704800	Weak transcription	Fetal Intestine Small	intestine
35	chr10:701200-705600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:701400-704400	Weak transcription	Psoas Muscle	Psoas
37	chr10:701400-704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:701400-706800	Weak transcription	Stomach Mucosa	stomach
39	chr10:701400-707000	Weak transcription	Lung	lung
40	chr10:701400-707600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:701600-703000	Enhancers	Brain Hippocampus Middle	brain
42	chr10:701600-704000	Weak transcription	Ovary	ovary
43	chr10:701600-704400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:701600-704400	Weak transcription	Brain Germinal Matrix	brain
45	chr10:701600-704400	Weak transcription	Fetal Intestine Large	intestine
46	chr10:701600-704800	Weak transcription	Fetal Brain Male	brain
47	chr10:701600-704800	Weak transcription	Fetal Brain Female	brain
48	chr10:701600-704800	Weak transcription	Gastric	stomach
49	chr10:701600-705600	Weak transcription	Aorta	Aorta
50	chr10:701600-707000	Weak transcription	Right Atrium	heart

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