Variant report

Variant	esv3323701
Chromosome Location	chr10:43718546-43723044
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43718537..43721092-chr10:43723825..43725844,2	K562	blood:
2	chr10:43721241..43722992-chr10:43727167..43730117,3	MCF-7	breast:
3	chr10:43717975..43720515-chr10:43721363..43724311,2	MCF-7	breast:
4	chr10:43716710..43720339-chr10:43755141..43758566,3	K562	blood:
5	chr10:43699342..43701842-chr10:43722370..43724384,2	K562	blood:
6	chr10:43715924..43718494-chr10:43721120..43724521,4	K562	blood:
7	chr10:43720964..43723652-chr10:43803043..43805548,2	K562	blood:
8	chr10:43697811..43700668-chr10:43716914..43719743,2	K562	blood:
9	chr10:43722360..43723991-chr10:43726752..43728958,3	K562	blood:
10	chr10:43717975..43720515-chr10:43721363..43724311,2	MCF-7	breast:
11	chr10:43720076..43721666-chr10:43723376..43725809,2	K562	blood:
12	chr10:43705829..43707653-chr10:43720065..43721565,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPF-3	chr10:43718876-43719043	l_303_chr10:43716824-43727797_testes

No data

Variant related genes	Relation type
ENSG00000198915	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111595531	chr10:43718582-43718583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12360493	chr10:43718613-43718614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs115965234	chr10:43718615-43718616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557885290	chr10:43718627-43718628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73256082	chr10:43718639-43718640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181489689	chr10:43718649-43718650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371538807	chr10:43718691-43718692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142202039	chr10:43718692-43718693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574329676	chr10:43718716-43718717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541644578	chr10:43718811-43718812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78393515	chr10:43718841-43718842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186909424	chr10:43718893-43718894	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs545655058	chr10:43718903-43718904	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs372676983	chr10:43719011-43719012	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs563952454	chr10:43719045-43719046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552037200	chr10:43719068-43719069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs151042382	chr10:43719090-43719091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75024348	chr10:43719125-43719126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549651686	chr10:43719150-43719151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562655426	chr10:43719161-43719162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555764836	chr10:43719187-43719188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11238481	chr10:43719286-43719287	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs540533296	chr10:43719321-43719322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560851252	chr10:43719384-43719385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140664893	chr10:43719386-43719387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549596967	chr10:43719398-43719399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371741700	chr10:43719417-43719418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192191782	chr10:43719533-43719534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548490266	chr10:43719555-43719556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565506379	chr10:43719560-43719561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569514222	chr10:43719601-43719602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539376357	chr10:43719651-43719652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558012524	chr10:43719703-43719704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117072808	chr10:43719709-43719710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184079032	chr10:43719727-43719728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10596444	chr10:43719740-43719741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537447503	chr10:43719741-43719742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565676586	chr10:43719748-43719749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531419201	chr10:43719855-43719856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117714827	chr10:43719867-43719868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527280776	chr10:43719868-43719869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541502227	chr10:43719929-43719930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571235482	chr10:43719980-43719981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144733644	chr10:43720150-43720151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578105916	chr10:43720152-43720153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552244050	chr10:43720156-43720157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545410317	chr10:43720162-43720163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563999873	chr10:43720163-43720164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117396014	chr10:43720216-43720217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543017675	chr10:43720231-43720232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43698000-43722800	Weak transcription	Gastric	stomach
2	chr10:43699400-43724600	Weak transcription	Right Atrium	heart
3	chr10:43714800-43722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43715200-43720400	Weak transcription	Pancreas	Pancrea
5	chr10:43715600-43720000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:43717000-43724000	Weak transcription	A549	lung
7	chr10:43717200-43720600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:43717400-43720800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:43717400-43721000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:43717600-43720400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr10:43717600-43720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:43717600-43724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:43717800-43720400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:43718000-43718600	Weak transcription	Brain Anterior Caudate	brain
15	chr10:43718000-43721000	Weak transcription	Spleen	Spleen
16	chr10:43718600-43719200	Enhancers	Brain Anterior Caudate	brain
17	chr10:43719200-43720400	Weak transcription	Brain Anterior Caudate	brain
18	chr10:43720000-43720400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:43720400-43720600	Enhancers	Brain Substantia Nigra	brain
20	chr10:43720400-43720800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:43720400-43721000	ZNF genes & repeats	Pancreas	Pancrea
22	chr10:43720400-43721200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:43720400-43721200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:43720400-43721800	Enhancers	Brain Anterior Caudate	brain
25	chr10:43720400-43722200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr10:43720400-43722200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:43720400-43722200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr10:43720600-43720800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr10:43720600-43720800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:43720600-43721000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:43720600-43721400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr10:43720600-43724400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:43720800-43721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:43720800-43721800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr10:43720800-43721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:43720800-43724000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:43720800-43724200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:43720800-43724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr10:43721000-43721600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:43721000-43721600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr10:43721000-43722200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr10:43721000-43724200	Weak transcription	Pancreas	Pancrea
43	chr10:43721000-43724600	Enhancers	Spleen	Spleen
44	chr10:43721200-43721600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:43721200-43721600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:43721200-43721600	Bivalent Enhancer	Placenta	Placenta
47	chr10:43721200-43722000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:43721400-43721800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr10:43721600-43722000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:43721600-43722400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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