Variant report

Variant	esv3435251
Chromosome Location	chr10:4707252-4711650
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
2	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:
3	chr10:4704371..4707713-chr10:4716720..4722125,6	MCF-7	breast:
4	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
5	chr10:4705429..4707304-chr10:4750266..4753221,2	MCF-7	breast:
6	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-9	chr10:4710241-4710324	NONHSAT011104
2	lnc-AKR1C2-9	chr10:4710241-4710346	NONHSAT011102
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: 129 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs220330	chr10:4707282-4707283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186379266	chr10:4707324-4707325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545154086	chr10:4707325-4707326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562145869	chr10:4707384-4707385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532988348	chr10:4707385-4707386	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192860	chr10:4707393-4707394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544036425	chr10:4707410-4707411	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551376066	chr10:4707419-4707420	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538728	chr10:4707426-4707427	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191177652	chr10:4707429-4707430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533726455	chr10:4707431-4707432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs180843454	chr10:4707438-4707439	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186566784	chr10:4707510-4707511	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549219891	chr10:4707532-4707533	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79561906	chr10:4707566-4707567	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201831864	chr10:4707567-4707568	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78680725	chr10:4707568-4707569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78732633	chr10:4707569-4707570	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs397705214	chr10:4707582-4707583	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566995949	chr10:4707595-4707596	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527728531	chr10:4707602-4707603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548970888	chr10:4707738-4707739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567721107	chr10:4707758-4707759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538346406	chr10:4707788-4707789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140581385	chr10:4707804-4707805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538549846	chr10:4707829-4707830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369057599	chr10:4707862-4707863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571839517	chr10:4707863-4707864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539144972	chr10:4707876-4707877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs410785	chr10:4707895-4707896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572872647	chr10:4707898-4707899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533722075	chr10:4707918-4707919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539059158	chr10:4707964-4707965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555410620	chr10:4707980-4707981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535958899	chr10:4707984-4707985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12772138	chr10:4708000-4708001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116410256	chr10:4708025-4708026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35358832	chr10:4708055-4708056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572723232	chr10:4708065-4708066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545086929	chr10:4708168-4708169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143060007	chr10:4708215-4708216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560168370	chr10:4708219-4708220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79514631	chr10:4708341-4708342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373714802	chr10:4708352-4708353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561359004	chr10:4708353-4708354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116192672	chr10:4708354-4708355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550484945	chr10:4708375-4708376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571740334	chr10:4708402-4708403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372518158	chr10:4708435-4708436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146889192	chr10:4708518-4708519	Weak transcription Enhancers	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4702600-4708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:4703600-4708200	Enhancers	NHDF-Ad	bronchial
3	chr10:4703600-4708400	Enhancers	Fetal Intestine Small	intestine
4	chr10:4703800-4708000	Enhancers	Dnd41	blood
5	chr10:4704000-4707600	Enhancers	HMEC	breast
6	chr10:4704200-4707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:4704200-4708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:4704200-4708600	Enhancers	Stomach Mucosa	stomach
9	chr10:4705000-4707800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:4705200-4708600	Enhancers	HUVEC	blood vessel
11	chr10:4705800-4707800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:4705800-4708400	Enhancers	Fetal Heart	heart
13	chr10:4706000-4707600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:4706200-4708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:4706200-4708000	Enhancers	HSMM	muscle
17	chr10:4706200-4708400	Enhancers	NHEK	skin
18	chr10:4706400-4707400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr10:4706400-4707400	Enhancers	A549	lung
20	chr10:4706600-4707600	Weak transcription	Adipose Nuclei	Adipose
21	chr10:4707000-4710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:4707000-4710800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:4707000-4713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:4707200-4707400	Enhancers	Osteobl	bone
25	chr10:4707400-4707800	Flanking Active TSS	A549	lung
26	chr10:4707400-4712600	Weak transcription	Osteobl	bone
27	chr10:4707600-4707800	Enhancers	Adipose Nuclei	Adipose
28	chr10:4707600-4712200	Weak transcription	HMEC	breast
29	chr10:4707600-4712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:4707800-4708000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr10:4707800-4708600	Enhancers	A549	lung
32	chr10:4707800-4709200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:4707800-4712800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:4707800-4713200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:4708000-4712800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:4708000-4713000	Weak transcription	HSMM	muscle
37	chr10:4708200-4712600	Weak transcription	NHDF-Ad	bronchial
38	chr10:4708400-4708600	Weak transcription	Fetal Heart	heart
39	chr10:4708600-4713000	Weak transcription	HUVEC	blood vessel
40	chr10:4709200-4709800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:4709800-4713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:4710000-4710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:4710400-4710800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:4710800-4711000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr10:4710800-4711400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:4711200-4711600	Weak transcription	A549	lung
47	chr10:4711400-4711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:4711600-4712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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