Variant report

Variant	esv3426835
Chromosome Location	chr10:49881596-49886494
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	BCLAF1	chr10:49885953-49886527	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:49882978-49883178	HepG2	liver:	n/a	chr10:49883018-49883029
3	CEBPB	chr10:49882955-49883165	A549	lung:	n/a	chr10:49883018-49883029
4	EP300	chr10:49886127-49886407	GM12878	blood:	n/a	n/a
5	EP300	chr10:49886174-49886396	GM12878	blood:	n/a	n/a
6	KAP1	chr10:49883027-49883291	K562	blood:	n/a	n/a
7	RCOR1	chr10:49885913-49886385	GM12878	blood:	n/a	n/a
8	RUNX3	chr10:49885773-49886521	GM12878	blood:	n/a	n/a
9	SETDB1	chr10:49885651-49886080	U2OS	brain:	n/a	n/a
10	SPI1	chr10:49886134-49886396	GM12891	blood:	n/a	chr10:49886330-49886343 chr10:49886242-49886255
11	STAT3	chr10:49886250-49886479	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr10:49886061-49886368	GM12878	blood:	n/a	n/a
13	TCF12	chr10:49886116-49886360	GM12878	blood:	n/a	n/a
14	TCF3	chr10:49886159-49886499	GM12878	blood:	n/a	n/a
15	TCF3	chr10:49886143-49886403	GM12878	blood:	n/a	n/a
16	ZNF384	chr10:49885792-49885800	GM12878	blood:	n/a	n/a
17	ZNF384	chr10:49881827-49882019	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49881356..49884139-chr10:49892568..49894153,2	MCF-7	breast:
2	chr10:49880056..49882618-chr10:49883091..49885631,2	K562	blood:

Variant related genes	Relation type
ENSG00000236800	TF binding region
ENSG00000128815	chromatin interactions
ENSG00000236800	chromatin interactions

Extended variants
information (count: 298 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:298 , 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	rs560195065	chr10:49881672-49881673	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550073097	chr10:49881740-49881741	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116489820	chr10:49881741-49881742	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs386743511	chr10:49881751-49881752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184216658	chr10:49881752-49881753	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116909675	chr10:49881755-49881756	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549104850	chr10:49881756-49881757	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562140592	chr10:49881778-49881779	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189312055	chr10:49881811-49881812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149537966	chr10:49881815-49881816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537559634	chr10:49881826-49881827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116085748	chr10:49881836-49881837	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573928721	chr10:49881845-49881846	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541322274	chr10:49881847-49881848	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368350064	chr10:49881893-49881894	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77544021	chr10:49881896-49881897	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74460723	chr10:49881910-49881911	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559719220	chr10:49881961-49881962	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531405101	chr10:49881984-49881985	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192396920	chr10:49881988-49881989	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544650056	chr10:49882015-49882016	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs114702468	chr10:49882033-49882034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143164676	chr10:49882035-49882036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73304232	chr10:49882041-49882042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561943655	chr10:49882047-49882048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570776766	chr10:49882066-49882067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529487973	chr10:49882105-49882106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78334824	chr10:49882140-49882141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547661011	chr10:49882141-49882142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535393970	chr10:49882148-49882149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138688775	chr10:49882162-49882163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551443593	chr10:49882163-49882164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570035655	chr10:49882193-49882194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537145817	chr10:49882220-49882221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141717152	chr10:49882264-49882265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146236058	chr10:49882325-49882326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534843000	chr10:49882461-49882462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553226422	chr10:49882492-49882493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140094568	chr10:49882495-49882496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56267743	chr10:49882510-49882511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190311831	chr10:49882521-49882522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182008858	chr10:49882529-49882530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542351812	chr10:49882606-49882607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560685746	chr10:49882676-49882677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370973796	chr10:49882684-49882685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528191650	chr10:49882706-49882707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541189957	chr10:49882712-49882713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141461925	chr10:49882729-49882730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559528959	chr10:49882759-49882760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201539500	chr10:49882763-49882764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49879000-49881600	Flanking Active TSS	GM12878-XiMat	blood
2	chr10:49880200-49881800	Enhancers	Primary B cells from cord blood	blood
3	chr10:49881000-49882200	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:49881600-49882800	Enhancers	GM12878-XiMat	blood
5	chr10:49881800-49882200	Weak transcription	Primary B cells from cord blood	blood
6	chr10:49882200-49882400	Enhancers	Primary B cells from cord blood	blood
7	chr10:49882200-49885600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:49882400-49885400	Weak transcription	Primary B cells from cord blood	blood
9	chr10:49885200-49886800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr10:49885400-49887200	Enhancers	Primary B cells from cord blood	blood
11	chr10:49885600-49887800	Enhancers	Primary B cells from peripheral blood	blood

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