Variant report

Variant	esv11643
Chromosome Location	chr10:50323048-50323975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:491)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:50323742-50323798	K562	blood:	n/a	n/a
2	ATF3	chr10:50323426-50323778	K562	blood:	n/a	chr10:50323542-50323562
3	BACH1	chr10:50322997-50323317	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr10:50323658-50323952	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr10:50323737-50323937	K562	blood:	n/a	n/a
6	BHLHE40	chr10:50323013-50323326	K562	blood:	n/a	n/a
7	BRCA1	chr10:50323099-50323329	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr10:50323620-50323895	K562	blood:	n/a	n/a
9	CBX3	chr10:50323554-50323957	K562	blood:	n/a	n/a
10	CCNT2	chr10:50323077-50323857	K562	blood:	n/a	chr10:50323655-50323664
11	CHD1	chr10:50322975-50323188	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr10:50322965-50323427	K562	blood:	n/a	n/a
13	CHD2	chr10:50323123-50323273	HepG2	liver:	n/a	n/a
14	CHD2	chr10:50323045-50323384	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:50323495-50323594	Gliobla	brain:	n/a	n/a
16	CTCF	chr10:50323260-50323550	GM12874	blood:	n/a	n/a
17	CTCF	chr10:50323140-50323290	HAc	cerebellar:	n/a	n/a
18	CTCF	chr10:50323476-50323582	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr10:50323239-50323243	A549	lung:	n/a	n/a
20	CTCF	chr10:50323020-50323170	BJ	skin:	n/a	n/a
21	CTCF	chr10:50323181-50323398	Fibrobl	skin:	n/a	n/a
22	CTCF	chr10:50323480-50323630	GM12869	blood:	n/a	n/a
23	CTCF	chr10:50323286-50323306	GM10266	blood:	n/a	n/a
24	CTCF	chr10:50323680-50323830	K562	blood:	n/a	n/a
25	CTCF	chr10:50322934-50323640	K562	blood:	n/a	n/a
26	CTCF	chr10:50323520-50323670	AG09319	gingival:	n/a	n/a
27	CTCF	chr10:50323501-50323602	GM10248	blood:	n/a	n/a
28	CTCF	chr10:50323315-50323320	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr10:50323180-50323330	K562	blood:	n/a	n/a
30	CTCF	chr10:50323060-50323210	AG04450	lung:	n/a	n/a
31	CTCF	chr10:50323020-50323170	HFF	foreskin:	n/a	n/a
32	CTCF	chr10:50322900-50323050	AG10803	skin:	n/a	n/a
33	CTCF	chr10:50322940-50323090	HPF	lung:	n/a	n/a
34	CTCF	chr10:50323420-50323570	AG04449	skin:	n/a	n/a
35	CTCF	chr10:50323512-50323630	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr10:50323275-50323371	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr10:50323220-50323343	ProgFib	skin:	n/a	n/a
38	CTCF	chr10:50323258-50323273	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr10:50323479-50323600	GM10266	blood:	n/a	n/a
40	CTCF	chr10:50323100-50323250	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr10:50323540-50323547	GM13977	blood:	n/a	n/a
42	CTCF	chr10:50323240-50323390	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr10:50323363-50323366	GM12891	blood:	n/a	n/a
44	CTCF	chr10:50322980-50323130	AG10803	skin:	n/a	n/a
45	CTCF	chr10:50323400-50323550	GM12865	blood:	n/a	n/a
46	CTCF	chr10:50323000-50323150	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr10:50323020-50323170	HMF	breast:	n/a	n/a
48	CTCF	chr10:50323145-50323716	K562	blood:	n/a	n/a
49	CTCF	chr10:50323180-50323330	HRE	kidney:	n/a	n/a
50	CTCF	chr10:50323260-50323410	GM12868	blood:	n/a	n/a

(count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50323829-50323879	HNPCEpiC	eye:	n/a
2	chr10:50323708-50323758	AG09309	skin:	n/a
3	chr10:50323127-50323177	HCPEpiC	choroid plexus:	n/a
4	chr10:50323829-50323879	HNPCEpiC	eye:	n/a
5	chr10:50323708-50323758	AG09309	skin:	n/a
6	chr10:50323127-50323177	HCPEpiC	choroid plexus:	n/a
7	chr10:50323832-50323882	AG04449	skin:	fetal
8	chr10:50323369-50323419	Hela-S3	cervix:	n/a
9	chr10:50323244-50323294	MCF10A-Er-Src	breast:	n/a
10	chr10:50323708-50323758	BJ	skin:	n/a
11	chr10:50323708-50323758	NHBE	bronchial:	n/a
12	chr10:50323127-50323177	NT2-D1	testis:	n/a
13	chr10:50323369-50323419	HEEpiC	esophagus:	n/a
14	chr10:50323369-50323419	BE2_C	brain:	n/a
15	chr10:50323706-50323756	Caco-2	colon:	n/a
16	chr10:50323708-50323758	LNCaP	prostate:	n/a
17	chr10:50323829-50323879	GM12878	blood:	n/a
18	chr10:50323244-50323294	HEK293	kidney:	embryo
19	chr10:50323369-50323419	A549	lung:	n/a
20	chr10:50323369-50323419	HRPEpiC	eye:	n/a
21	chr10:50323825-50323875	NT2-D1	testis:	n/a
22	chr10:50323832-50323882	GM19239	blood:	n/a
23	chr10:50323832-50323882	GM12878	blood:	n/a
24	chr10:50323825-50323875	CMK	blood:	n/a
25	chr10:50323832-50323882	Caco-2	colon:	n/a
26	chr10:50323127-50323177	SAEC	small airway:	n/a
27	chr10:50323825-50323875	HCT-116	colon:	n/a
28	chr10:50323706-50323756	NHDF-neo	bronchial:	n/a
29	chr10:50323708-50323758	SK-N-SH_RA	brain:	n/a
30	chr10:50323829-50323879	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:50323706-50323756	AG10803	skin:	n/a
32	chr10:50323708-50323758	SKMC	muscle:	n/a
33	chr10:50323127-50323177	PFSK-1	brain:	n/a
34	chr10:50323127-50323177	U87	brain:	n/a
35	chr10:50323706-50323756	BE2_C	brain:	n/a
36	chr10:50323708-50323758	AG09319	gingival:	n/a
37	chr10:50323708-50323758	HRCEpiC	kidney:	n/a
38	chr10:50323706-50323756	NHBE	bronchial:	n/a
39	chr10:50323244-50323294	Hepatocyte	liver:	n/a
40	chr10:50323832-50323882	PFSK-1	brain:	n/a
41	chr10:50323708-50323758	ovcar-3	ovarian:	n/a
42	chr10:50323825-50323875	HCPEpiC	choroid plexus:	n/a
43	chr10:50323369-50323419	HEK293	kidney:	embryo
44	chr10:50323127-50323177	BE2_C	brain:	n/a
45	chr10:50323369-50323419	HCT-116	colon:	n/a
46	chr10:50323832-50323882	PANC-1	pancreas:	n/a
47	chr10:50323825-50323875	NB4	blood:	n/a
48	chr10:50323244-50323294	HRCEpiC	kidney:	n/a
49	chr10:50323244-50323294	ProgFib	skin:	n/a
50	chr10:50323832-50323882	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

No data

Variant related genes	Relation type
VSTM4	TF binding region
VSTM4	CpG island
ENSG00000172538	chromatin interactions
ENSG00000177354	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369049807	chr10:50323052-50323053	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559533623	chr10:50323073-50323074	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548834691	chr10:50323102-50323103	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533351432	chr10:50323133-50323134	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551445566	chr10:50323163-50323164	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563444910	chr10:50323164-50323165	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114224190	chr10:50323212-50323213	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548800600	chr10:50323215-50323216	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567102368	chr10:50323295-50323296	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141087200	chr10:50323348-50323349	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546865154	chr10:50323374-50323375	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568024249	chr10:50323402-50323403	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs571413350	chr10:50323438-50323439	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538633530	chr10:50323704-50323705	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143140276	chr10:50323709-50323710	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368558610	chr10:50323752-50323753	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs114783688	chr10:50323799-50323800	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs142693718	chr10:50323832-50323833	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537264473	chr10:50323836-50323837	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs115653734	chr10:50323857-50323858	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556022629	chr10:50323900-50323901	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536964816	chr10:50323901-50323902	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541399562	chr10:50323916-50323917	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368697585	chr10:50323973-50323974	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50321000-50323200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr10:50321800-50324000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr10:50322000-50323200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr10:50322000-50323200	Flanking Active TSS	NHLF	lung
5	chr10:50322000-50324000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr10:50322200-50323800	Active TSS	Right Ventricle	heart
7	chr10:50322200-50324000	Active TSS	Aorta	Aorta
8	chr10:50322200-50324600	Active TSS	Brain Cingulate Gyrus	brain
9	chr10:50322400-50323800	Active TSS	Left Ventricle	heart
10	chr10:50322400-50323800	Active TSS	Ovary	ovary
11	chr10:50322400-50323800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr10:50322400-50324000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:50322400-50324000	Active TSS	Right Atrium	heart
14	chr10:50322400-50324000	Active TSS	HSMMtube	muscle
15	chr10:50322600-50323200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
16	chr10:50322600-50323200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr10:50322600-50323200	Flanking Active TSS	K562	blood
18	chr10:50322600-50323400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr10:50322600-50323400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr10:50322600-50323800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr10:50322600-50323800	Active TSS	Fetal Kidney	kidney
22	chr10:50322600-50323800	Active TSS	Psoas Muscle	Psoas
23	chr10:50322600-50323800	Active TSS	NH-A	brain
24	chr10:50322600-50324000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:50322600-50324000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:50322600-50324000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:50322600-50324000	Active TSS	Fetal Lung	lung
28	chr10:50322600-50324000	Active TSS	Rectal Smooth Muscle	rectum
29	chr10:50322800-50323200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:50322800-50323200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:50322800-50323200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:50322800-50323200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr10:50322800-50323200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr10:50322800-50323200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr10:50322800-50323200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:50322800-50323200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr10:50322800-50323200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
38	chr10:50322800-50323200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr10:50322800-50323200	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr10:50322800-50323400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr10:50322800-50323400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:50322800-50323400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:50322800-50323400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
44	chr10:50322800-50323400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:50322800-50323400	Flanking Active TSS	Liver	Liver
46	chr10:50322800-50323400	Bivalent/Poised TSS	HUVEC	blood vessel
47	chr10:50322800-50323600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
48	chr10:50322800-50323800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr10:50322800-50323800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:50322800-50323800	Bivalent/Poised TSS	Colonic Mucosa	Colon

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