Variant report

Variant	esv3324337
Chromosome Location	chr10:3842852-3847150
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:3846003..3848657-chr10:3886879..3889430,2	K562	blood:
2	chr10:3841262..3842953-chr10:3844726..3846302,2	MCF-7	breast:
3	chr10:3844115..3845978-chr10:3894603..3897488,2	K562	blood:
4	chr10:3846512..3848264-chr10:3935343..3937709,2	K562	blood:
5	chr10:3844661..3847626-chr10:3892286..3894671,2	K562	blood:
6	chr10:3841262..3842953-chr10:3844726..3846302,2	MCF-7	breast:
7	chr10:3544672..3546393-chr10:3846136..3849063,2	K562	blood:
8	chr10:3846136..3847799-chr10:3877909..3879695,2	K562	blood:
9	chr10:3846213..3848385-chr10:3895031..3897147,2	K562	blood:
10	chr10:3845321..3847632-chr10:3930350..3933088,2	K562	blood:
11	chr10:3843369..3848661-chr10:3868056..3873522,8	K562	blood:
12	chr10:3842625..3845056-chr10:3845647..3847558,3	MCF-7	breast:
13	chr10:3845249..3847045-chr10:3927599..3930581,2	MCF-7	breast:
14	chr10:3842625..3845056-chr10:3845647..3847558,3	MCF-7	breast:
15	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
16	chr10:3846663..3853057-chr10:3891702..3895719,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233321	chromatin interactions
ENSG00000067082	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs574355929	chr10:3842901-3842902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201859833	chr10:3842910-3842911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535026098	chr10:3842930-3842931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373709725	chr10:3842958-3842959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553311369	chr10:3842964-3842965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571712328	chr10:3842967-3842968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562967298	chr10:3843031-3843032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535917010	chr10:3843035-3843036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554385725	chr10:3843036-3843037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115511702	chr10:3843061-3843062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145400096	chr10:3843066-3843067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149434240	chr10:3843093-3843094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184231137	chr10:3843150-3843151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577051597	chr10:3843158-3843159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189378065	chr10:3843165-3843166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572134626	chr10:3843331-3843332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559736369	chr10:3843349-3843350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530138787	chr10:3843388-3843389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114792577	chr10:3843395-3843396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563615186	chr10:3843440-3843441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35241124	chr10:3843467-3843468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547040295	chr10:3843485-3843486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147731445	chr10:3843501-3843502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536970237	chr10:3843520-3843521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571034317	chr10:3843583-3843584	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141036011	chr10:3843586-3843587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181739864	chr10:3843621-3843622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7917224	chr10:3843639-3843640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535830926	chr10:3843649-3843650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554580976	chr10:3843653-3843654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7918138	chr10:3843659-3843660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7918147	chr10:3843677-3843678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374721080	chr10:3843713-3843714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577113556	chr10:3843722-3843723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541301943	chr10:3843742-3843743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17249633	chr10:3843745-3843746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531791937	chr10:3843754-3843755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550094893	chr10:3843785-3843786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185080409	chr10:3843786-3843787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543659319	chr10:3843823-3843824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35085555	chr10:3843827-3843828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150278462	chr10:3843848-3843849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189630584	chr10:3843849-3843850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138956779	chr10:3843851-3843852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564496343	chr10:3843859-3843860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565450275	chr10:3843885-3843886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532872959	chr10:3843887-3843888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528678584	chr10:3843895-3843896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546827035	chr10:3843949-3843950	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568395539	chr10:3843970-3843971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	21509527	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

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3829200-3843000	Weak transcription	Fetal Heart	heart
2	chr10:3829200-3844800	Weak transcription	Right Ventricle	heart
3	chr10:3833000-3847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:3834800-3846600	Weak transcription	NHLF	lung
5	chr10:3835200-3843200	Weak transcription	Spleen	Spleen
6	chr10:3838600-3844800	Weak transcription	Gastric	stomach
7	chr10:3840000-3846400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:3840400-3844400	Weak transcription	K562	blood
9	chr10:3840600-3843400	Weak transcription	HepG2	liver
10	chr10:3841400-3844800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr10:3841800-3846400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:3842000-3843600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr10:3842000-3844600	Weak transcription	Dnd41	blood
14	chr10:3842000-3844800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:3842400-3843600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:3842400-3843800	Enhancers	Primary T cells from cord blood	blood
17	chr10:3842800-3843800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr10:3842800-3843800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:3842800-3846400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:3842800-3846400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr10:3843000-3843200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:3843000-3844600	Enhancers	Fetal Heart	heart
23	chr10:3843000-3847800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr10:3843000-3852000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:3843200-3843400	Enhancers	Primary hematopoietic stem cells	blood
26	chr10:3843200-3843400	Enhancers	Placenta	Placenta
27	chr10:3843200-3843400	Enhancers	Lung	lung
28	chr10:3843200-3843400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr10:3843200-3843400	Enhancers	Spleen	Spleen
30	chr10:3843200-3843600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:3843200-3844400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:3843200-3844600	Enhancers	Fetal Muscle Leg	muscle
33	chr10:3843400-3843600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:3843400-3843600	Enhancers	Fetal Lung	lung
35	chr10:3843400-3843800	Enhancers	Fetal Thymus	thymus
36	chr10:3843400-3843800	Enhancers	HepG2	liver
37	chr10:3843400-3844400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:3843400-3844600	Weak transcription	Lung	lung
39	chr10:3843400-3845400	Enhancers	Left Ventricle	heart
40	chr10:3843400-3846400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:3843400-3848200	Weak transcription	Spleen	Spleen
42	chr10:3843600-3843800	Enhancers	HSMMtube	muscle
43	chr10:3843600-3844800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:3843600-3844800	Weak transcription	Fetal Lung	lung
45	chr10:3843600-3845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr10:3843600-3845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:3843800-3844000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:3843800-3844000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:3843800-3844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr10:3843800-3845000	Weak transcription	Primary T cells from cord blood	blood

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