Variant report

Variant	esv3356446
Chromosome Location	chr10:52415371-52417919
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	REST	chr10:52417887-52418100	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52389046..52395992-chr10:52408718..52416095,10	K562	blood:
2	chr10:52414539..52416441-chr10:52417401..52419945,2	MCF-7	breast:
3	chr10:52414539..52416441-chr10:52417401..52419945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231345	TF binding region
ENSG00000231345	chromatin interactions
ENSG00000231588	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547555705	chr10:52415410-52415411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555205720	chr10:52415436-52415437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11594105	chr10:52415456-52415457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567643537	chr10:52415505-52415506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7898659	chr10:52415533-52415534	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11592387	chr10:52415543-52415544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375363004	chr10:52415592-52415593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11594956	chr10:52415594-52415595	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11592398	chr10:52415600-52415601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs55969688	chr10:52415652-52415653	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200925116	chr10:52415661-52415662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11594142	chr10:52415671-52415672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572960208	chr10:52415673-52415674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570031782	chr10:52415690-52415691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73320893	chr10:52415757-52415758	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190763841	chr10:52415762-52415763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113626876	chr10:52415779-52415780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201424210	chr10:52415791-52415792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181962185	chr10:52415795-52415796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149570652	chr10:52415798-52415799	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546252892	chr10:52415803-52415804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7909198	chr10:52415821-52415822	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199745840	chr10:52415839-52415840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190463339	chr10:52415847-52415848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374064220	chr10:52415848-52415849	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7908477	chr10:52415851-52415852	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181318087	chr10:52415872-52415873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185871238	chr10:52415880-52415881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534836389	chr10:52415884-52415885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528293243	chr10:52415947-52415948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369900641	chr10:52415961-52415962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371678245	chr10:52415962-52415963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376616362	chr10:52415964-52415965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55953936	chr10:52415988-52415989	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374617680	chr10:52416002-52416003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73320894	chr10:52416169-52416170	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569362531	chr10:52416171-52416172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552795641	chr10:52416174-52416175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568511572	chr10:52416181-52416182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11006452	chr10:52416194-52416195	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555012250	chr10:52416216-52416217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182962840	chr10:52416339-52416340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556929067	chr10:52416378-52416379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187550868	chr10:52416379-52416380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61676037	chr10:52416387-52416388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552983233	chr10:52416393-52416394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572842196	chr10:52416412-52416413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3011716	chr10:52416424-52416425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs3011717	chr10:52416467-52416468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375148646	chr10:52416553-52416554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52411200-52419200	Weak transcription	Fetal Intestine Small	intestine
2	chr10:52413600-52419200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr10:52413600-52419600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:52413600-52419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:52413800-52418400	Weak transcription	Fetal Thymus	thymus
6	chr10:52413800-52418600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:52413800-52419200	Weak transcription	Thymus	Thymus
8	chr10:52414000-52419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:52414000-52419200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:52414000-52419600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr10:52414000-52419600	Weak transcription	Primary T cells from cord blood	blood
12	chr10:52414000-52419800	Weak transcription	HUVEC	blood vessel
13	chr10:52414200-52419200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr10:52414400-52419200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:52414400-52419600	Weak transcription	Placenta	Placenta
16	chr10:52414600-52418000	Weak transcription	GM12878-XiMat	blood
17	chr10:52414600-52419600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:52414800-52417600	Weak transcription	K562	blood
19	chr10:52416400-52418000	Weak transcription	Fetal Stomach	stomach
20	chr10:52417400-52419000	Weak transcription	Right Atrium	heart
21	chr10:52417400-52419400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:52417600-52418800	Weak transcription	Liver	Liver
23	chr10:52417600-52420200	Active TSS	K562	blood

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