Variant report

Variant	esv3334069
Chromosome Location	chr10:52090396-52090674
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	ARID3A	chr10:52090227-52090559	K562	blood:	n/a	n/a
2	EP300	chr10:52090285-52090787	K562	blood:	n/a	chr10:52090292-52090306
3	IRF1	chr10:52084442-52090847	K562	blood:	n/a	chr10:52090287-52090301 chr10:52086930-52086944 chr10:52088265-52088275 chr10:52088265-52088279 chr10:52090293-52090307 chr10:52086150-52086164 chr10:52086929-52086940 chr10:52090290-52090307 chr10:52089129-52089146 chr10:52087521-52087530 chr10:52087520-52087529 chr10:52085252-52085263 chr10:52087393-52087402 chr10:52089131-52089143 chr10:52086926-52086946 chr10:52086932-52086945 chr10:52090291-52090302 chr10:52086931-52086945 chr10:52086932-52086945 chr10:52085247-52085264 chr10:52086566-52086575 chr10:52089132-52089142 chr10:52086562-52086573 chr10:52086932-52086945 chr10:52089102-52089116 chr10:52086564-52086574
4	IRF1	chr10:52090357-52092435	K562	blood:	n/a	chr10:52090864-52090874
5	JUND	chr10:52090433-52090765	K562	blood:	n/a	n/a
6	MYC	chr10:52090372-52090709	K562	blood:	n/a	n/a
7	MYC	chr10:52089986-52093027	K562	blood:	n/a	n/a
8	POLR2A	chr10:52090422-52090525	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr10:52082643-52104294	K562	blood:	n/a	n/a
10	POLR2A	chr10:52090299-52090680	GM12878	blood:	n/a	n/a
11	ZC3H11A	chr10:52090140-52090534	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52089314..52090958-chr10:52289108..52291926,2	K562	blood:
2	chr10:52090051..52092656-chr10:52383474..52386447,2	K562	blood:

Variant related genes	Relation type
ENSG00000269165	TF binding region
ENSG00000226200	chromatin interactions
ENSG00000198964	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561489280	chr10:52090402-52090403	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10825753	chr10:52090403-52090404	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541104439	chr10:52090423-52090424	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564223030	chr10:52090452-52090453	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs187365221	chr10:52090453-52090454	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs549963844	chr10:52090500-52090501	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs191732782	chr10:52090504-52090505	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529147330	chr10:52090515-52090516	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs549276303	chr10:52090546-52090547	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs149125975	chr10:52090586-52090587	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576271698	chr10:52090612-52090613	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs17721187	chr10:52090613-52090614	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs10740654	chr10:52090624-52090625	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52067400-52093600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:52071000-52102400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:52071000-52102600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:52071200-52091800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:52071200-52093400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:52071200-52093800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:52071200-52094000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr10:52071200-52094200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr10:52071200-52095800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:52071200-52103000	Weak transcription	Fetal Intestine Large	intestine
11	chr10:52071200-52103200	Weak transcription	Thymus	Thymus
12	chr10:52071200-52103400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:52071200-52103400	Weak transcription	Esophagus	oesophagus
14	chr10:52073000-52094200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:52073000-52102800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:52074800-52091400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:52076400-52103200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:52080600-52102600	Weak transcription	Lung	lung
19	chr10:52082000-52094200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr10:52084000-52103200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:52084400-52103400	Weak transcription	Spleen	Spleen
22	chr10:52084600-52093400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:52085800-52094200	Weak transcription	Primary B cells from cord blood	blood
24	chr10:52085800-52094800	Weak transcription	Liver	Liver
25	chr10:52085800-52095800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr10:52085800-52095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:52085800-52102800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr10:52085800-52103400	Weak transcription	Pancreas	Pancrea
29	chr10:52086800-52090400	Weak transcription	Small Intestine	intestine
30	chr10:52087000-52093000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:52087000-52094000	Weak transcription	Fetal Kidney	kidney
32	chr10:52087000-52098800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr10:52087000-52099400	Weak transcription	Brain Substantia Nigra	brain
34	chr10:52087000-52102400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:52087000-52102600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:52087000-52103200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr10:52087000-52103400	Weak transcription	Aorta	Aorta
38	chr10:52087000-52105800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:52087000-52106800	Weak transcription	Brain Angular Gyrus	brain
40	chr10:52087200-52094000	Weak transcription	Placenta	Placenta
41	chr10:52087200-52095000	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:52087200-52099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:52087200-52102400	Weak transcription	Colon Smooth Muscle	Colon
44	chr10:52087200-52102600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:52087200-52102600	Weak transcription	Right Ventricle	heart
46	chr10:52087200-52102600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:52087200-52103200	Weak transcription	Fetal Stomach	stomach
48	chr10:52087200-52107400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr10:52087400-52090800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:52087400-52091800	Weak transcription	Fetal Heart	heart

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