Variant report

Variant	esv3318029
Chromosome Location	chr10:50947746-50952444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50949080-50949119	K562	blood:	n/a	n/a
2	CTCF	chr10:50949480-50949630	GM12872	blood:	n/a	n/a
3	CTCF	chr10:50948980-50949130	BE2_C	brain:	n/a	chr10:50948999-50949007
4	CTCF	chr10:50949707-50950571	GM19239	blood:	n/a	n/a
5	CTCF	chr10:50949040-50949190	HEK293	kidney:	n/a	n/a
6	CTCF	chr10:50949820-50949970	Caco-2	colon:	n/a	n/a
7	CTCF	chr10:50948980-50949130	HBMEC	blood vessel:	n/a	chr10:50948999-50949007
8	MAX	chr10:50950756-50950764	HepG2	liver:	n/a	n/a
9	MAX	chr10:50948940-50949165	K562	blood:	n/a	chr10:50949099-50949109
10	MYC	chr10:50949812-50949998	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr10:50950073-50950299	MCF-7	breast:	n/a	n/a
12	NR2C2	chr10:50949682-50950638	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:50950301-50950479	MCF-7	breast:	n/a	n/a
14	POLR2A	chr10:50950222-50950501	K562	blood:	n/a	n/a
15	POLR2A	chr10:50949593-50950649	HepG2	liver:	n/a	n/a
16	RCOR1	chr10:50950085-50950160	K562	blood:	n/a	n/a
17	RFX5	chr10:50949746-50949933	HepG2	liver:	n/a	n/a
18	SUZ12	chr10:50949606-50950651	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF2	chr10:50950144-50950163	K562	blood:	n/a	n/a

Variant related genes	Relation type
OGDHL	TF binding region

Extended variants
information (count: 295 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:295 , 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	rs377624854	chr10:50947758-50947759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370705040	chr10:50947759-50947760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375222599	chr10:50947773-50947774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544942816	chr10:50947790-50947791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200851604	chr10:50947791-50947792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201862050	chr10:50947799-50947800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111949002	chr10:50947806-50947807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138138510	chr10:50947807-50947808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189326161	chr10:50947821-50947822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143105288	chr10:50947825-50947826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147493776	chr10:50947844-50947845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2293239	chr10:50947852-50947853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200631758	chr10:50947892-50947893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367826996	chr10:50947907-50947908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370396305	chr10:50947908-50947909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547499226	chr10:50947917-50947918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1258259	chr10:50947918-50947919	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs539450045	chr10:50947920-50947921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372150856	chr10:50947936-50947937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535708406	chr10:50947977-50947978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569888664	chr10:50947979-50947980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564457455	chr10:50948001-50948002	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs537332803	chr10:50948007-50948008	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs189545972	chr10:50948024-50948025	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs35514103	chr10:50948047-50948048	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs529977826	chr10:50948062-50948063	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs534769835	chr10:50948069-50948070	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117981539	chr10:50948104-50948105	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs148509912	chr10:50948135-50948136	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs544719339	chr10:50948137-50948138	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs181490829	chr10:50948231-50948232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563279117	chr10:50948289-50948290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576691981	chr10:50948319-50948320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544116269	chr10:50948397-50948398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72795765	chr10:50948489-50948490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375086530	chr10:50948490-50948491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529453651	chr10:50948517-50948518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1258260	chr10:50948527-50948528	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559465538	chr10:50948535-50948536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533453878	chr10:50948559-50948560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111446791	chr10:50948588-50948589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12267625	chr10:50948595-50948596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376034685	chr10:50948601-50948602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555397043	chr10:50948606-50948607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371733142	chr10:50948631-50948632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549309553	chr10:50948646-50948647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77418733	chr10:50948651-50948652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77109156	chr10:50948682-50948683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553195768	chr10:50948713-50948714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571289711	chr10:50948715-50948716	Weak transcription Strong transcription	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:83 , 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	chr10:50943800-50948000	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr10:50943800-50956000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:50944400-50950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:50944400-50952400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:50944800-50951600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:50945400-50953000	Weak transcription	Ovary	ovary
20	chr10:50945600-50948600	Weak transcription	Pancreas	Pancrea
21	chr10:50946200-50948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:50946200-50949600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:50946200-50951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:50946200-50955200	Weak transcription	Fetal Brain Female	brain
25	chr10:50946400-50947800	Weak transcription	Brain Angular Gyrus	brain
26	chr10:50946400-50948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:50946400-50949600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:50946400-50949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:50946400-50950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:50946600-50948600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:50946600-50950200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr10:50946800-50949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:50947200-50952400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:50947800-50960400	Strong transcription	Brain Angular Gyrus	brain
35	chr10:50948000-50948200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:50948000-50948800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr10:50948000-50956600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:50948400-50949200	Weak transcription	Spleen	Spleen
39	chr10:50948600-50949000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:50948600-50949800	Strong transcription	Pancreas	Pancrea
41	chr10:50948600-50955600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:50948800-50949000	Enhancers	Gastric	stomach
43	chr10:50948800-50956600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr10:50949000-50949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:50949000-50953800	Weak transcription	Gastric	stomach
46	chr10:50949400-50950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:50949400-50950000	Active TSS	Spleen	Spleen
48	chr10:50949600-50950200	ZNF genes & repeats	Fetal Brain Male	brain
49	chr10:50949600-50950400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr10:50949600-50950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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