Variant report

Variant	esv3344593
Chromosome Location	chr10:51595893-51606619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:51596410-51596506	GM10248	blood:	n/a	n/a
2	CTCF	chr10:51599184-51599246	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr10:51600393-51600494	LNCaP	prostate:	n/a	n/a
4	FOSL2	chr10:51597020-51597536	HepG2	liver:	n/a	n/a
5	FOSL2	chr10:51597033-51597554	HepG2	liver:	n/a	n/a
6	FOXA1	chr10:51596801-51597992	HepG2	liver:	n/a	n/a
7	HEY1	chr10:51597088-51597326	HepG2	liver:	n/a	n/a
8	HEY1	chr10:51597657-51597967	HepG2	liver:	n/a	n/a
9	JUND	chr10:51597115-51597383	HepG2	liver:	n/a	n/a
10	JUND	chr10:51597024-51597509	HepG2	liver:	n/a	n/a
11	MYBL2	chr10:51596804-51597860	HepG2	liver:	n/a	n/a
12	MYBL2	chr10:51596936-51597535	HepG2	liver:	n/a	n/a
13	PBX3	chr10:51598996-51599114	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:51599917-51600241	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:51597870-51598098	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:51606372-51606474	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:51606112-51606172	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:51603444-51603855	GM12891	blood:	n/a	n/a
19	POLR2A	chr10:51598086-51598317	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:51598496-51599196	GM12892	blood:	n/a	n/a
21	POLR2A	chr10:51598846-51599148	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr10:51598569-51598777	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:51600283-51600478	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr10:51598459-51598911	GM12891	blood:	n/a	n/a
25	POLR2A	chr10:51603076-51603096	HepG2	liver:	n/a	n/a
26	POLR2A	chr10:51602309-51602457	HepG2	liver:	n/a	n/a
27	POLR2A	chr10:51597846-51597853	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:51601004-51601418	GM12891	blood:	n/a	n/a
29	POLR2A	chr10:51602427-51602457	ProgFib	skin:	n/a	n/a
30	POLR2A	chr10:51597747-51597757	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:51600701-51601394	GM12892	blood:	n/a	n/a
32	POLR2A	chr10:51604723-51605034	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:51600985-51601422	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr10:51600993-51601441	GM12891	blood:	n/a	n/a
35	POLR2A	chr10:51598596-51598815	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr10:51606436-51606564	MCF-7	breast:	n/a	n/a
37	POLR2A	chr10:51603380-51604000	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:51603375-51603627	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:51600830-51601439	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:51600701-51601474	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:51600725-51601278	GM12892	blood:	n/a	n/a
42	POLR2A	chr10:51599444-51599640	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:51606480-51606587	HepG2	liver:	n/a	n/a
44	POLR2A	chr10:51597952-51598429	GM12878	blood:	n/a	n/a
45	POLR2A	chr10:51606433-51606830	ProgFib	skin:	n/a	n/a
46	POLR2A	chr10:51601068-51601351	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:51598577-51598808	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr10:51602027-51602393	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:51602463-51602511	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:51600148-51600358	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:51570592..51573850-chr10:51592863..51596570,5	K562	blood:
2	chr10:51566865..51573381-chr10:51591747..51595936,8	K562	blood:
3	chr10:51574397..51577698-chr10:51592269..51595916,4	K562	blood:

No data

Variant related genes	Relation type
TIMM23	TF binding region
ENSG00000138293	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587625428	chr10:51596064-51596065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs587660945	chr10:51596225-51596226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587717977	chr10:51596243-51596244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199966670	chr10:51596280-51596281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111462309	chr10:51596693-51596694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs587600995	chr10:51597007-51597008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111300983	chr10:51597027-51597028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs587669896	chr10:51597365-51597366	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs587732962	chr10:51597602-51597603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200449478	chr10:51597640-51597641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201434669	chr10:51597673-51597674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587669361	chr10:51597705-51597706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs587748984	chr10:51597722-51597723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587614790	chr10:51598083-51598084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs587682073	chr10:51598172-51598173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376571014	chr10:51598290-51598291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587756965	chr10:51598424-51598425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs587613538	chr10:51598486-51598487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191281878	chr10:51598499-51598500	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587772050	chr10:51598505-51598506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs587671001	chr10:51598591-51598592	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs11599187	chr10:51598854-51598855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs587729472	chr10:51598878-51598879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181286511	chr10:51598880-51598881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377365905	chr10:51599069-51599070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373581372	chr10:51599129-51599130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371001435	chr10:51599505-51599506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74775456	chr10:51599638-51599639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80041377	chr10:51599676-51599677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74326357	chr10:51599684-51599685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587775450	chr10:51599694-51599695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79732717	chr10:51599697-51599698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587637186	chr10:51599723-51599724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375347772	chr10:51599734-51599735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201489431	chr10:51599970-51599971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202243240	chr10:51599973-51599974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199670594	chr10:51600028-51600029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587720946	chr10:51600071-51600072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370540792	chr10:51600457-51600458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587679962	chr10:51600486-51600487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587716207	chr10:51600499-51600500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587611305	chr10:51600560-51600561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587669147	chr10:51600775-51600776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587728797	chr10:51602168-51602169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369873487	chr10:51602290-51602291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587627777	chr10:51602424-51602425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587651620	chr10:51602436-51602437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587739184	chr10:51602444-51602445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587611656	chr10:51602506-51602507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2813146	chr10:51602523-51602524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	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
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51578200-51596000	Strong transcription	Placenta	Placenta
2	chr10:51579000-51596000	Strong transcription	Brain Germinal Matrix	brain
3	chr10:51579200-51596000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:51585600-51596000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:51585600-51597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:51587600-51596400	Weak transcription	Fetal Heart	heart
7	chr10:51588400-51596000	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr10:51589000-51596400	Weak transcription	Brain Angular Gyrus	brain
9	chr10:51589000-51623000	Weak transcription	Small Intestine	intestine
10	chr10:51590400-51596800	Weak transcription	Esophagus	oesophagus
11	chr10:51591200-51596000	Strong transcription	Fetal Stomach	stomach
12	chr10:51591200-51596200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr10:51592600-51597200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:51592800-51597200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:51593200-51596600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:51593400-51596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:51593400-51596800	Weak transcription	HMEC	breast
18	chr10:51593400-51597200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:51593400-51597200	Weak transcription	Stomach Mucosa	stomach
20	chr10:51593600-51596800	Weak transcription	HUVEC	blood vessel
21	chr10:51593800-51596000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:51593800-51597000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:51594200-51596400	Weak transcription	Brain Anterior Caudate	brain
24	chr10:51594200-51596600	Weak transcription	Hela-S3	cervix
25	chr10:51594200-51596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:51594200-51597200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr10:51594200-51604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:51594400-51596600	Weak transcription	HSMMtube	muscle
29	chr10:51594400-51597200	Weak transcription	GM12878-XiMat	blood
30	chr10:51594400-51597400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:51594400-51598400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:51594400-51600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:51594400-51622400	Weak transcription	Fetal Intestine Small	intestine
34	chr10:51594400-51622800	Weak transcription	Gastric	stomach
35	chr10:51594600-51596000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:51594600-51596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:51594600-51596800	Weak transcription	NHLF	lung
38	chr10:51594600-51597400	Weak transcription	Psoas Muscle	Psoas
39	chr10:51594600-51598000	Weak transcription	Ovary	ovary
40	chr10:51594600-51598000	Weak transcription	NH-A	brain
41	chr10:51594600-51614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:51595000-51596600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr10:51595200-51596000	Genic enhancers	K562	blood
44	chr10:51595200-51596800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr10:51595200-51596800	Weak transcription	A549	lung
46	chr10:51595200-51596800	Weak transcription	NHDF-Ad	bronchial
47	chr10:51595200-51596800	Weak transcription	NHEK	skin
48	chr10:51595200-51597000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:51595200-51597000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:51595200-51597000	Weak transcription	Stomach Smooth Muscle	stomach

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