Variant report

Variant	esv3436810
Chromosome Location	chr10:4706552-4712450
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:
2	chr10:4704371..4707713-chr10:4716720..4722125,6	MCF-7	breast:
3	chr10:4704243..4706913-chr10:4720436..4722129,2	MCF-7	breast:
4	chr10:4702078..4707095-chr10:4773802..4779822,17	MCF-7	breast:
5	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
6	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:
7	chr10:4694173..4696454-chr10:4704960..4707093,2	K562	blood:
8	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:
9	chr10:4704812..4707104-chr10:4757845..4760690,2	MCF-7	breast:
10	chr10:4705429..4707304-chr10:4750266..4753221,2	MCF-7	breast:
11	chr10:4698769..4700286-chr10:4703854..4706647,2	MCF-7	breast:
12	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
13	chr10:4711824..4713897-chr10:4774936..4777024,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-9	chr10:4710241-4710346	NONHSAT011102
2	lnc-AKR1C2-9	chr10:4710241-4710324	NONHSAT011104
3	lnc-AKR1C2-9	chr10:4710241-4710262	l_243_NR_024475

No data

Variant related genes	Relation type
ENSG00000231298	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528366494	chr10:4706555-4706556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551698496	chr10:4706576-4706577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571144481	chr10:4706605-4706606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372315720	chr10:4706707-4706708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142212520	chr10:4706728-4706729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533579981	chr10:4706737-4706738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376689964	chr10:4706778-4706779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569208290	chr10:4706816-4706817	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561420887	chr10:4706817-4706818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151047393	chr10:4706857-4706858	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140023448	chr10:4706893-4706894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528968796	chr10:4706906-4706907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369645146	chr10:4706944-4706945	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553257707	chr10:4706953-4706954	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553431860	chr10:4706955-4706956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56878647	chr10:4706963-4706964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567518795	chr10:4706966-4706967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537206667	chr10:4706976-4706977	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538009883	chr10:4707013-4707014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556728057	chr10:4707106-4707107	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575217946	chr10:4707169-4707170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539541789	chr10:4707212-4707213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557765180	chr10:4707217-4707218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572911581	chr10:4707218-4707219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540525504	chr10:4707233-4707234	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11252648	chr10:4707250-4707251	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs220330	chr10:4707282-4707283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186379266	chr10:4707324-4707325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545154086	chr10:4707325-4707326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562145869	chr10:4707384-4707385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532988348	chr10:4707385-4707386	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192860	chr10:4707393-4707394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544036425	chr10:4707410-4707411	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551376066	chr10:4707419-4707420	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538728	chr10:4707426-4707427	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191177652	chr10:4707429-4707430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533726455	chr10:4707431-4707432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180843454	chr10:4707438-4707439	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186566784	chr10:4707510-4707511	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549219891	chr10:4707532-4707533	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79561906	chr10:4707566-4707567	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201831864	chr10:4707567-4707568	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78680725	chr10:4707568-4707569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78732633	chr10:4707569-4707570	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397705214	chr10:4707582-4707583	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566995949	chr10:4707595-4707596	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527728531	chr10:4707602-4707603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548970888	chr10:4707738-4707739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567721107	chr10:4707758-4707759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538346406	chr10:4707788-4707789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4702600-4708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:4703600-4706600	Enhancers	Colon Smooth Muscle	Colon
3	chr10:4703600-4706600	Enhancers	NHLF	lung
4	chr10:4703600-4707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4703600-4707000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr10:4703600-4708200	Enhancers	NHDF-Ad	bronchial
7	chr10:4703600-4708400	Enhancers	Fetal Intestine Small	intestine
8	chr10:4703800-4707000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr10:4703800-4707000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr10:4703800-4707200	Enhancers	Fetal Intestine Large	intestine
11	chr10:4703800-4708000	Enhancers	Dnd41	blood
12	chr10:4704000-4707000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:4704000-4707600	Enhancers	HMEC	breast
14	chr10:4704200-4707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:4704200-4708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:4704200-4708600	Enhancers	Stomach Mucosa	stomach
17	chr10:4704400-4706600	Enhancers	Adipose Nuclei	Adipose
18	chr10:4704400-4706600	Enhancers	Fetal Brain Female	brain
19	chr10:4704400-4706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:4705000-4707800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:4705200-4706800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:4705200-4706800	Weak transcription	Left Ventricle	heart
23	chr10:4705200-4708600	Enhancers	HUVEC	blood vessel
24	chr10:4705400-4706600	Weak transcription	Aorta	Aorta
25	chr10:4705400-4706800	Weak transcription	Psoas Muscle	Psoas
26	chr10:4705800-4706800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:4705800-4706800	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:4705800-4706800	Weak transcription	Ovary	ovary
29	chr10:4705800-4706800	Enhancers	Osteobl	bone
30	chr10:4705800-4707000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:4705800-4707800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:4705800-4708400	Enhancers	Fetal Heart	heart
33	chr10:4706000-4706600	Enhancers	NH-A	brain
34	chr10:4706000-4706800	Enhancers	Rectal Smooth Muscle	rectum
35	chr10:4706000-4706800	Enhancers	HSMMtube	muscle
36	chr10:4706000-4707200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:4706000-4707600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:4706200-4706800	Enhancers	Hela-S3	cervix
39	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:4706200-4708000	Enhancers	HSMM	muscle
42	chr10:4706200-4708400	Enhancers	NHEK	skin
43	chr10:4706400-4706800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:4706400-4707400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr10:4706400-4707400	Enhancers	A549	lung
46	chr10:4706600-4707600	Weak transcription	Adipose Nuclei	Adipose
47	chr10:4706800-4707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:4706800-4707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:4706800-4707000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:4706800-4707000	Enhancers	Aorta	Aorta

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