Variant report

Variant	esv3377695
Chromosome Location	chr10:52319096-52321394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52319647..52323316-chr10:52382184..52387388,6	K562	blood:
2	chr10:52313546..52319488-chr10:52380502..52386285,13	K562	blood:
3	chr10:52270150..52272703-chr10:52318825..52321110,2	MCF-7	breast:
4	chr10:52176588..52178104-chr10:52321160..52323318,2	MCF-7	breast:
5	chr10:52321176..52321727-chr10:52383601..52384321,2	MCF-7	breast:
6	chr10:52321284..52321942-chr10:52383537..52384335,2	K562	blood:
7	chr10:52321239..52322152-chr10:52412979..52413544,2	MCF-7	breast:
8	chr10:52319643..52322201-chr10:52358538..52360204,2	MCF-7	breast:
9	chr10:52319465..52323601-chr10:52381894..52385353,11	MCF-7	breast:
10	chr10:52321225..52322115-chr10:52384431..52385212,4	K562	blood:
11	chr10:52317228..52319701-chr10:52328035..52331029,3	K562	blood:
12	chr10:52321318..52322646-chr10:52381436..52382589,4	MCF-7	breast:
13	chr10:52318973..52324648-chr10:52334040..52339164,5	K562	blood:
14	chr10:52319893..52329540-chr10:52377624..52388129,20	MCF-7	breast:
15	chr10:52319959..52321571-chr10:52382214..52385087,2	K562	blood:
16	chr10:52177587..52179424-chr10:52317859..52320100,2	MCF-7	breast:
17	chr10:52313474..52316249-chr10:52319945..52321727,3	K562	blood:
18	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198964	chromatin interactions
ENSG00000226200	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559456272	chr10:52319125-52319126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs180714931	chr10:52319239-52319240	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552248927	chr10:52319240-52319241	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150745023	chr10:52319253-52319254	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185278967	chr10:52319293-52319294	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs139109694	chr10:52319311-52319312	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568707545	chr10:52319317-52319318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376995110	chr10:52319319-52319320	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78056190	chr10:52319344-52319345	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111548844	chr10:52319416-52319417	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189648966	chr10:52319417-52319418	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538629175	chr10:52319459-52319460	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181869987	chr10:52319470-52319471	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs36122110	chr10:52319517-52319518	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543936115	chr10:52319582-52319583	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149399756	chr10:52319712-52319713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186235553	chr10:52319757-52319758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146369566	chr10:52319788-52319789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190511438	chr10:52319796-52319797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551844343	chr10:52319817-52319818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139467320	chr10:52319821-52319822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs398114312	chr10:52319825-52319826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12413362	chr10:52319831-52319832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34323396	chr10:52319850-52319851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183083937	chr10:52319859-52319860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546200356	chr10:52319938-52319939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562709346	chr10:52319964-52319965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531723814	chr10:52319970-52319971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112955679	chr10:52320000-52320001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548729331	chr10:52320002-52320003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144512085	chr10:52320009-52320010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568556377	chr10:52320017-52320018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201144468	chr10:52320049-52320050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11006134	chr10:52320073-52320074	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148714568	chr10:52320087-52320088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561693224	chr10:52320094-52320095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10826180	chr10:52320108-52320109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556799560	chr10:52320119-52320120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568539304	chr10:52320156-52320157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369219648	chr10:52320184-52320185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537444109	chr10:52320230-52320231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554286319	chr10:52320235-52320236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574155893	chr10:52320240-52320241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540425946	chr10:52320244-52320245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113239866	chr10:52320270-52320271	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201480533	chr10:52320283-52320284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7073468	chr10:52320284-52320285	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577086095	chr10:52320288-52320289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186301521	chr10:52320297-52320298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536112167	chr10:52320313-52320314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
10	chr10:52310400-52323800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:52310600-52323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:52310600-52327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:52311000-52323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
15	chr10:52312600-52321000	Weak transcription	NH-A	brain
16	chr10:52312800-52319800	Enhancers	NHLF	lung
17	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:52313000-52319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:52313000-52320600	Weak transcription	HepG2	liver
21	chr10:52313000-52322800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:52313200-52333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr10:52313800-52320800	Weak transcription	Fetal Kidney	kidney
25	chr10:52314600-52319600	Enhancers	NHDF-Ad	bronchial
26	chr10:52315000-52322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:52315000-52329600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:52315200-52320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:52315200-52323600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:52315400-52322000	Weak transcription	Fetal Thymus	thymus
32	chr10:52315600-52319400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:52315600-52320800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:52315600-52323800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood
36	chr10:52315800-52319600	Enhancers	Fetal Heart	heart
37	chr10:52315800-52320800	Weak transcription	HSMMtube	muscle
38	chr10:52316000-52319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:52316000-52320400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:52316000-52321000	Weak transcription	HSMM	muscle
41	chr10:52316000-52323600	Weak transcription	Fetal Intestine Small	intestine
42	chr10:52316200-52320800	Weak transcription	Stomach Mucosa	stomach
43	chr10:52316200-52321000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr10:52316400-52319400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:52316400-52320600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:52316400-52322000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:52316400-52322200	Weak transcription	Placenta	Placenta
48	chr10:52316400-52322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:52316400-52323600	Weak transcription	Gastric	stomach
50	chr10:52316400-52325200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links