Variant report

Variant	esv275022
Chromosome Location	chr10:43613026-43620551
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43616246..43618061-chr10:43622272..43624625,2	K562	blood:
2	chr10:43614895..43617172-chr10:43618877..43621238,2	K562	blood:
3	chr10:43611889..43615361-chr10:43616709..43619694,4	MCF-7	breast:
4	chr10:43616569..43618189-chr10:43619172..43621560,2	MCF-7	breast:
5	chr10:43609230..43611797-chr10:43616396..43619297,2	K562	blood:
6	chr10:43616473..43618715-chr10:43626088..43628928,2	MCF-7	breast:
7	chr10:43614895..43617172-chr10:43618877..43621238,2	K562	blood:
8	chr10:43620062..43622835-chr10:43632716..43635230,3	MCF-7	breast:
9	chr10:43611889..43615361-chr10:43616709..43619694,4	MCF-7	breast:
10	chr10:43616569..43618189-chr10:43619172..43621560,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273008	chromatin interactions
ENSG00000169826	chromatin interactions

Extended variants
information (count: 387 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140249342	chr10:43613045-43613046	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3026765	chr10:43613072-43613073	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540156409	chr10:43613107-43613108	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79045327	chr10:43613108-43613109	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575804526	chr10:43613109-43613110	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570359900	chr10:43613113-43613114	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200227811	chr10:43613135-43613136	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537837694	chr10:43613173-43613174	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182355245	chr10:43613187-43613188	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527592965	chr10:43613215-43613216	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565969970	chr10:43613227-43613228	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574172981	chr10:43613250-43613251	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541656036	chr10:43613289-43613290	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375772533	chr10:43613304-43613305	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571881752	chr10:43613307-43613308	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545696718	chr10:43613308-43613309	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564367339	chr10:43613311-43613312	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547228023	chr10:43613322-43613323	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531650212	chr10:43613368-43613369	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114921735	chr10:43613400-43613401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs12263074	chr10:43613422-43613423	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150378757	chr10:43613440-43613441	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs60703750	chr10:43613448-43613449	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs376959468	chr10:43613497-43613498	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs77470751	chr10:43613499-43613500	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs559989652	chr10:43613638-43613639	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs575342629	chr10:43613651-43613652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537918566	chr10:43613656-43613657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs140646535	chr10:43613675-43613676	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370094559	chr10:43613706-43613707	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs570324837	chr10:43613713-43613714	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs3026766	chr10:43613736-43613737	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549734254	chr10:43613767-43613768	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs567684697	chr10:43613787-43613788	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs199938820	chr10:43613791-43613792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs376601566	chr10:43613817-43613818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs199882293	chr10:43613824-43613825	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs75075748	chr10:43613829-43613830	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs140658743	chr10:43613834-43613835	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs78014899	chr10:43613840-43613841	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs142793711	chr10:43613841-43613842	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs1800861	chr10:43613843-43613844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs377767414	chr10:43613845-43613846	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs377767415	chr10:43613866-43613867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs75686697	chr10:43613868-43613869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs377767416	chr10:43613878-43613879	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs149148794	chr10:43613905-43613906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs75030001	chr10:43613906-43613907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs377767417	chr10:43613907-43613908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs77724903	chr10:43613908-43613909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43601400-43613400	Weak transcription	Liver	Liver
2	chr10:43601400-43632800	Weak transcription	Gastric	stomach
3	chr10:43601600-43624800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:43606400-43614800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr10:43606400-43632600	Weak transcription	Right Atrium	heart
6	chr10:43606600-43616400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:43606600-43616800	Weak transcription	Right Ventricle	heart
8	chr10:43606600-43626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:43606800-43616800	Weak transcription	Fetal Lung	lung
10	chr10:43607800-43617400	Weak transcription	Spleen	Spleen
11	chr10:43609200-43616600	Weak transcription	HUVEC	blood vessel
12	chr10:43609400-43614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:43609400-43614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:43609800-43614200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:43609800-43626800	Weak transcription	Fetal Intestine Small	intestine
16	chr10:43610400-43615000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr10:43611200-43613800	Enhancers	Fetal Muscle Leg	muscle
18	chr10:43611400-43615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:43611400-43616200	Weak transcription	Lung	lung
20	chr10:43611800-43616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:43611800-43621200	Weak transcription	Fetal Intestine Large	intestine
22	chr10:43613400-43614600	Enhancers	Liver	Liver
23	chr10:43614000-43615200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:43614000-43615400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr10:43614000-43616600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:43614200-43616200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:43614400-43616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:43614400-43616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:43614400-43617800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr10:43614600-43618400	Weak transcription	Liver	Liver
31	chr10:43614800-43615000	Enhancers	Primary B cells from peripheral blood	blood
32	chr10:43614800-43626800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr10:43615000-43615800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr10:43615000-43618200	Enhancers	Fetal Muscle Trunk	muscle
35	chr10:43615200-43615600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:43615200-43616000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr10:43615200-43618400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:43615400-43616200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr10:43615400-43617600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:43615400-43617800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr10:43615400-43618600	Enhancers	Primary hematopoietic stem cells	blood
42	chr10:43615400-43619600	Enhancers	Fetal Muscle Leg	muscle
43	chr10:43615600-43617400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:43615600-43617800	Enhancers	Placenta	Placenta
45	chr10:43615600-43621400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:43615800-43617200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:43615800-43617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:43615800-43617400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr10:43615800-43617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr10:43615800-43617400	Enhancers	Primary T helper cells PMA-I stimulated	--

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