Variant report

Variant	esv3502797
Chromosome Location	chr10:50197246-50208144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:50197664-50197873	K562	blood:	n/a	chr10:50197774-50197785
2	CEBPB	chr10:50197650-50197808	HepG2	liver:	n/a	chr10:50197774-50197785
3	CTCF	chr10:50201436-50201485	GM20000	blood:	n/a	n/a
4	CTCF	chr10:50202691-50202734	GM13976	blood:	n/a	n/a
5	CTCF	chr10:50201740-50201890	AG09309	skin:	n/a	n/a
6	CTCF	chr10:50201720-50201870	NHDF-neo	bronchial:	n/a	n/a
7	EGR1	chr10:50201739-50202022	K562	blood:	n/a	n/a
8	EGR1	chr10:50201681-50201987	K562	blood:	n/a	n/a
9	GATA3	chr10:50196927-50197251	SH-SY5Y	brain:	n/a	n/a
10	IRF1	chr10:50198049-50198062	K562	blood:	n/a	n/a
11	JUND	chr10:50201773-50201931	K562	blood:	n/a	n/a
12	POLR2A	chr10:50199141-50199172	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:50202260-50202325	K562	blood:	n/a	n/a
14	POLR2A	chr10:50202511-50202546	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr10:50203922-50204105	K562	blood:	n/a	n/a
16	POLR2A	chr10:50202870-50203070	K562	blood:	n/a	n/a
17	RCOR1	chr10:50201779-50201916	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50193213..50195144-chr10:50197588..50199974,2	K562	blood:
2	chr10:50192722..50194230-chr10:50195951..50198323,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM4-1	chr10:50200455-50201091	ENSG00000233665.4

No data

Variant related genes	Relation type
ENSG00000233665	TF binding region
MIR4294	TF binding region
ENSG00000264800	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553975197	chr10:50197289-50197290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572394964	chr10:50197321-50197322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546149741	chr10:50197336-50197337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564359895	chr10:50197348-50197349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531380502	chr10:50197388-50197389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7086917	chr10:50197435-50197436	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537397204	chr10:50197452-50197453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115156536	chr10:50197464-50197465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2249294	chr10:50197484-50197485	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148842268	chr10:50197511-50197512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368335145	chr10:50197512-50197513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184850297	chr10:50197556-50197557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533786735	chr10:50197562-50197563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189734682	chr10:50197582-50197583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527863910	chr10:50197595-50197596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577274180	chr10:50197604-50197605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552491162	chr10:50197657-50197658	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76927356	chr10:50197658-50197659	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114041489	chr10:50197697-50197698	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143706914	chr10:50197765-50197766	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73298996	chr10:50197768-50197769	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535552409	chr10:50197790-50197791	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192649982	chr10:50197850-50197851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140467566	chr10:50197869-50197870	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183531547	chr10:50197923-50197924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs118104576	chr10:50197925-50197926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149979475	chr10:50197953-50197954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2458671	chr10:50197994-50197995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528347042	chr10:50198068-50198069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188222424	chr10:50198105-50198106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371244663	chr10:50198123-50198124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115377399	chr10:50198183-50198184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528858795	chr10:50198208-50198209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114320827	chr10:50198260-50198261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559014480	chr10:50198267-50198268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145423211	chr10:50198290-50198291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114672684	chr10:50198294-50198295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575587629	chr10:50198337-50198338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181760509	chr10:50198350-50198351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553927619	chr10:50198373-50198374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550172466	chr10:50198382-50198383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186276245	chr10:50198444-50198445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs58144692	chr10:50198482-50198483	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547954150	chr10:50198485-50198486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74585160	chr10:50198498-50198499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539651585	chr10:50198537-50198538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541756871	chr10:50198538-50198539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573679451	chr10:50198559-50198560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188915321	chr10:50198574-50198575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561345008	chr10:50198594-50198595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50189800-50201200	Weak transcription	Right Atrium	heart
2	chr10:50190400-50204600	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:50192400-50197600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:50196200-50198800	Weak transcription	Primary B cells from cord blood	blood
5	chr10:50197600-50198400	Enhancers	Brain Hippocampus Middle	brain
6	chr10:50197600-50198400	Enhancers	Brain Substantia Nigra	brain
7	chr10:50197800-50198400	Enhancers	Brain Cingulate Gyrus	brain
8	chr10:50198000-50198400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr10:50199600-50200200	Enhancers	Stomach Mucosa	stomach
10	chr10:50201200-50201600	Enhancers	Right Atrium	heart
11	chr10:50201400-50201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50204400-50205000	Enhancers	Fetal Intestine Large	intestine
13	chr10:50204400-50205200	Enhancers	Fetal Intestine Small	intestine
14	chr10:50205000-50206600	Weak transcription	Fetal Intestine Large	intestine
15	chr10:50205200-50206200	Weak transcription	Fetal Intestine Small	intestine
16	chr10:50206200-50210400	Enhancers	Duodenum Mucosa	Duodenum
17	chr10:50206200-50211200	Enhancers	Fetal Intestine Small	intestine
18	chr10:50206600-50211000	Enhancers	Fetal Intestine Large	intestine
19	chr10:50206800-50209800	Enhancers	Stomach Mucosa	stomach
20	chr10:50207800-50208200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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