Variant report

Variant	esv2761584
Chromosome Location	chr10:25727933-25732659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:25727136..25729248-chr10:25744729..25747128,2	MCF-7	breast:
2	chr10:25730769..25733444-chr10:25743019..25744664,2	K562	blood:
3	chr10:25725645..25727300-chr10:25728753..25731180,2	K562	blood:
4	chr10:25706764..25708552-chr10:25730292..25732467,2	K562	blood:
5	chr10:25726717..25730282-chr10:25730723..25733512,4	K562	blood:
6	chr10:25726717..25730282-chr10:25730723..25733512,4	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs12243676	chr10:25728027-25728028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182874053	chr10:25728071-25728072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564488161	chr10:25728095-25728096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188138234	chr10:25728115-25728116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192731719	chr10:25728129-25728130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184270743	chr10:25728140-25728141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140696555	chr10:25728168-25728169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187778596	chr10:25728169-25728170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528850159	chr10:25728177-25728178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548531653	chr10:25728188-25728189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115831061	chr10:25728196-25728197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534577429	chr10:25728211-25728212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192495745	chr10:25728234-25728235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144629887	chr10:25728241-25728242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146666222	chr10:25728246-25728247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185053702	chr10:25728253-25728254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576563566	chr10:25728268-25728269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540453224	chr10:25728272-25728273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188986973	chr10:25728287-25728288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10764553	chr10:25728288-25728289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113785196	chr10:25728332-25728333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541345730	chr10:25728352-25728353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564828595	chr10:25728356-25728357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550834583	chr10:25728375-25728376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578108149	chr10:25728479-25728480	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11014558	chr10:25728493-25728494	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs563550101	chr10:25728504-25728505	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540067481	chr10:25728542-25728543	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74124007	chr10:25728556-25728557	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs201631503	chr10:25728562-25728563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548691865	chr10:25728564-25728565	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558889469	chr10:25728567-25728568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181512249	chr10:25728587-25728588	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185230101	chr10:25728598-25728599	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1410928	chr10:25728613-25728614	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189685198	chr10:25728672-25728673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115525375	chr10:25728675-25728676	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550700745	chr10:25728680-25728681	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535776523	chr10:25728706-25728707	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117351856	chr10:25728766-25728767	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61617584	chr10:25728812-25728813	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555930699	chr10:25728826-25728827	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572447865	chr10:25728862-25728863	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145575002	chr10:25728875-25728876	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376726821	chr10:25728896-25728897	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72782131	chr10:25728916-25728917	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs578167394	chr10:25728941-25728942	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543763528	chr10:25728972-25728973	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs547875840	chr10:25728991-25728992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs80046983	chr10:25729035-25729036	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Cancer	20164919	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25725800-25730200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:25726000-25730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:25727800-25729200	Weak transcription	Psoas Muscle	Psoas
4	chr10:25728400-25731200	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr10:25729000-25730800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr10:25729200-25729400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:25729200-25729400	Enhancers	Psoas Muscle	Psoas
8	chr10:25729400-25730600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:25730000-25730600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr10:25730000-25730600	Enhancers	Fetal Heart	heart
11	chr10:25730200-25731200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:25730400-25731200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:25730400-25731200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:25730400-25731800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:25730600-25731200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:25731200-25731800	Enhancers	Skeletal Muscle Female	skeletal muscle

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