Variant report

Variant	esv3401087
Chromosome Location	chr10:50948446-50954144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50952946-50953336	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:50953073-50953222	Gliobla	brain:	n/a	n/a
3	CTCF	chr10:50953120-50953270	K562	blood:	n/a	n/a
4	CTCF	chr10:50949080-50949119	K562	blood:	n/a	n/a
5	CTCF	chr10:50953040-50953190	HCT-116	colon:	n/a	n/a
6	CTCF	chr10:50953060-50953210	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr10:50952869-50953465	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:50953152-50953176	Medullo	brain:	n/a	n/a
9	CTCF	chr10:50953020-50953170	GM12868	blood:	n/a	n/a
10	CTCF	chr10:50949707-50950571	GM19239	blood:	n/a	n/a
11	CTCF	chr10:50953040-50953190	NHEK	skin:	n/a	n/a
12	CTCF	chr10:50953040-50953190	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr10:50953060-50953210	HMEC	breast:	n/a	n/a
14	CTCF	chr10:50953080-50953230	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr10:50953060-50953210	GM12869	blood:	n/a	n/a
16	CTCF	chr10:50953080-50953230	HEK293	kidney:	n/a	n/a
17	CTCF	chr10:50953040-50953190	GM12878	blood:	n/a	n/a
18	CTCF	chr10:50953080-50953230	GM12866	blood:	n/a	n/a
19	CTCF	chr10:50953080-50953230	GM12873	blood:	n/a	n/a
20	CTCF	chr10:50953020-50953170	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:50953100-50953250	NB4	blood:	n/a	n/a
22	CTCF	chr10:50953000-50953150	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr10:50953160-50953310	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr10:50953051-50953226	GM12891	blood:	n/a	n/a
25	CTCF	chr10:50953030-50953244	K562	blood:	n/a	n/a
26	CTCF	chr10:50953020-50953170	GM12872	blood:	n/a	n/a
27	CTCF	chr10:50953080-50953217	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:50953072-50953220	NHEK	skin:	n/a	n/a
29	CTCF	chr10:50953080-50953230	GM12867	blood:	n/a	n/a
30	CTCF	chr10:50952947-50953281	K562	blood:	n/a	n/a
31	CTCF	chr10:50953040-50953190	RPTEC	kidney:	n/a	n/a
32	CTCF	chr10:50948980-50949130	HBMEC	blood vessel:	n/a	chr10:50948999-50949007
33	CTCF	chr10:50953064-50953235	GM12892	blood:	n/a	n/a
34	CTCF	chr10:50953180-50953330	GM12873	blood:	n/a	n/a
35	CTCF	chr10:50949480-50949630	GM12872	blood:	n/a	n/a
36	CTCF	chr10:50952946-50953316	K562	blood:	n/a	n/a
37	CTCF	chr10:50953190-50953193	GM19239	blood:	n/a	n/a
38	CTCF	chr10:50953100-50953250	A549	lung:	n/a	n/a
39	CTCF	chr10:50953020-50953170	GM06990	blood:	n/a	n/a
40	CTCF	chr10:50953080-50953230	K562	blood:	n/a	n/a
41	CTCF	chr10:50953108-50953219	LNCaP	prostate:	n/a	n/a
42	CTCF	chr10:50953064-50953240	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:50953025-50953281	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr10:50953060-50953210	Caco-2	colon:	n/a	n/a
45	CTCF	chr10:50953100-50953250	GM12871	blood:	n/a	n/a
46	CTCF	chr10:50953080-50953230	BJ	skin:	n/a	n/a
47	CTCF	chr10:50953119-50953188	GM19239	blood:	n/a	n/a
48	CTCF	chr10:50953140-50953290	GM12864	blood:	n/a	n/a
49	CTCF	chr10:50953100-50953250	GM12864	blood:	n/a	n/a
50	CTCF	chr10:50953080-50953230	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50953927..50957241-chr10:50965194..50969750,5	K562	blood:

No data

Variant related genes	Relation type
OGDHL	TF binding region
ENSG00000197444	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72795765	chr10:50948489-50948490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375086530	chr10:50948490-50948491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529453651	chr10:50948517-50948518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1258260	chr10:50948527-50948528	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559465538	chr10:50948535-50948536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533453878	chr10:50948559-50948560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111446791	chr10:50948588-50948589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12267625	chr10:50948595-50948596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376034685	chr10:50948601-50948602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555397043	chr10:50948606-50948607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371733142	chr10:50948631-50948632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549309553	chr10:50948646-50948647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77418733	chr10:50948651-50948652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77109156	chr10:50948682-50948683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553195768	chr10:50948713-50948714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571289711	chr10:50948715-50948716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142745579	chr10:50948728-50948729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199727256	chr10:50948741-50948742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368234947	chr10:50948745-50948746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575210187	chr10:50948772-50948773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138401698	chr10:50948773-50948774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs267602512	chr10:50948779-50948780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528566362	chr10:50948793-50948794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377549624	chr10:50948871-50948872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370157348	chr10:50948872-50948873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs267602513	chr10:50948875-50948876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3750756	chr10:50948901-50948902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374344259	chr10:50948911-50948912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200247594	chr10:50948933-50948934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543968908	chr10:50948968-50948969	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs3750757	chr10:50948987-50948988	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs148316073	chr10:50949054-50949055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548621057	chr10:50949117-50949118	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs151121973	chr10:50949165-50949166	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534508434	chr10:50949208-50949209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533338756	chr10:50949211-50949212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186233346	chr10:50949243-50949244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188597020	chr10:50949272-50949273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530938576	chr10:50949273-50949274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs745838	chr10:50949274-50949275	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs745837	chr10:50949335-50949336	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181459136	chr10:50949350-50949351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367947992	chr10:50949371-50949372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571441384	chr10:50949373-50949374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs745836	chr10:50949416-50949417	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557026858	chr10:50949418-50949419	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372595213	chr10:50949432-50949433	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149834014	chr10:50949433-50949434	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186055908	chr10:50949447-50949448	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574026202	chr10:50949477-50949478	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	22543975	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50935200-50949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:50940400-50949600	Weak transcription	Fetal Heart	heart
3	chr10:50940400-50953400	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:50940600-50966000	Strong transcription	Liver	Liver
5	chr10:50941000-50951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
7	chr10:50942000-50949600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:50943000-50956400	Strong transcription	Brain Anterior Caudate	brain
9	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:50943400-50949400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:50943400-50956200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:50943600-50949600	Strong transcription	Fetal Intestine Small	intestine
13	chr10:50943800-50956000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:50944400-50950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:50944400-50952400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:50944800-50951600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:50945400-50953000	Weak transcription	Ovary	ovary
19	chr10:50945600-50948600	Weak transcription	Pancreas	Pancrea
20	chr10:50946200-50948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:50946200-50949600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:50946200-50951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:50946200-50955200	Weak transcription	Fetal Brain Female	brain
24	chr10:50946400-50949600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:50946400-50949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:50946400-50950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:50946600-50948600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:50946600-50950200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:50946800-50949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:50947200-50952400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:50947800-50960400	Strong transcription	Brain Angular Gyrus	brain
32	chr10:50948000-50948800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:50948000-50956600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:50948400-50949200	Weak transcription	Spleen	Spleen
35	chr10:50948600-50949000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:50948600-50949800	Strong transcription	Pancreas	Pancrea
37	chr10:50948600-50955600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:50948800-50949000	Enhancers	Gastric	stomach
39	chr10:50948800-50956600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr10:50949000-50949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:50949000-50953800	Weak transcription	Gastric	stomach
42	chr10:50949400-50950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:50949400-50950000	Active TSS	Spleen	Spleen
44	chr10:50949600-50950200	ZNF genes & repeats	Fetal Brain Male	brain
45	chr10:50949600-50950400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr10:50949600-50950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:50949600-50950400	Weak transcription	Fetal Intestine Small	intestine
48	chr10:50949600-50950600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr10:50949600-50950600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:50949600-50950600	Strong transcription	Fetal Heart	heart

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