Variant report

Variant	nsv894979
Chromosome Location	chr10:27325119-27375411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:27353165-27353365	HepG2	liver:	n/a	n/a
2	BACH1	chr10:27361461-27361748	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr10:27361372-27361687	K562	blood:	n/a	n/a
4	CEBPB	chr10:27361473-27361681	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr10:27326379-27326579	HepG2	liver:	n/a	chr10:27326471-27326482 chr10:27326470-27326481
6	CEBPB	chr10:27325451-27325503	HepG2	liver:	n/a	n/a
7	CEBPB	chr10:27342337-27342629	K562	blood:	n/a	chr10:27342488-27342499
8	CEBPB	chr10:27349143-27349321	HepG2	liver:	n/a	chr10:27349258-27349269 chr10:27349258-27349271 chr10:27349255-27349272
9	CEBPB	chr10:27327790-27327960	HepG2	liver:	n/a	chr10:27327898-27327911
10	CEBPB	chr10:27342340-27342579	HepG2	liver:	n/a	chr10:27342488-27342499
11	CHD2	chr10:27361475-27361603	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr10:27354118-27354207	GM12878	blood:	n/a	n/a
13	CTCF	chr10:27361540-27361690	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr10:27361480-27361630	GM12874	blood:	n/a	n/a
15	CTCF	chr10:27361540-27361690	RPTEC	kidney:	n/a	n/a
16	CTCF	chr10:27361509-27361666	NHEK	skin:	n/a	n/a
17	CTCF	chr10:27361378-27361726	HepG2	liver:	n/a	n/a
18	CTCF	chr10:27361460-27361610	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr10:27361298-27361684	A549	lung:	n/a	n/a
20	CTCF	chr10:27361449-27361627	HepG2	liver:	n/a	n/a
21	CTCF	chr10:27361520-27361670	GM12872	blood:	n/a	n/a
22	CTCF	chr10:27361500-27361650	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr10:27360420-27360570	A549	lung:	n/a	n/a
24	CTCF	chr10:27361473-27361691	MCF-7	breast:	n/a	n/a
25	CTCF	chr10:27361480-27361630	MCF-7	breast:	n/a	n/a
26	CTCF	chr10:27352032-27352074	GM13976	blood:	n/a	n/a
27	CTCF	chr10:27361441-27361634	K562	blood:	n/a	n/a
28	CTCF	chr10:27361512-27361652	GM19238	blood:	n/a	n/a
29	CTCF	chr10:27361535-27361581	GM19240	blood:	n/a	n/a
30	CTCF	chr10:27361550-27361607	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr10:27361491-27361669	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:27361460-27361610	Caco-2	colon:	n/a	n/a
33	CTCF	chr10:27361567-27361611	GM12878	blood:	n/a	n/a
34	CTCF	chr10:27361480-27361630	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr10:27361480-27361630	GM12864	blood:	n/a	n/a
36	CTCF	chr10:27361562-27361628	Fibrobl	skin:	n/a	n/a
37	CTCF	chr10:27361540-27361690	GM06990	blood:	n/a	n/a
38	CTCF	chr10:27361494-27361659	A549	lung:	n/a	n/a
39	CTCF	chr10:27361500-27361650	HCT-116	colon:	n/a	n/a
40	CTCF	chr10:27361421-27361707	K562	blood:	n/a	n/a
41	CTCF	chr10:27347955-27348045	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr10:27361440-27361590	HAc	cerebellar:	n/a	n/a
43	CTCF	chr10:27361500-27361650	GM12872	blood:	n/a	n/a
44	CTCF	chr10:27361500-27361650	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr10:27361420-27361570	Caco-2	colon:	n/a	n/a
46	CTCF	chr10:27361499-27361683	Gliobla	brain:	n/a	n/a
47	CTCF	chr10:27361480-27361630	HCM	heart:	n/a	n/a
48	CTCF	chr10:27361559-27361562	GM12878	blood:	n/a	n/a
49	CTCF	chr10:27361420-27361570	HepG2	liver:	n/a	n/a
50	CTCF	chr10:27361520-27361670	HMF	breast:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27324943..27326466-chr10:27346953..27349698,2	K562	blood:
2	chr10:27348919..27351268-chr10:27352657..27355523,2	K562	blood:
3	chr10:27368701..27371697-chr10:27373369..27375918,2	K562	blood:
4	chr10:27353136..27355014-chr10:27355485..27358702,3	MCF-7	breast:
5	chr10:27347010..27347530-chr5:179190299..179190865,2	MCF-7	breast:
6	chr10:27353022..27355655-chr10:27358630..27361237,2	K562	blood:
7	chr10:27348919..27351268-chr10:27352657..27355523,2	K562	blood:
8	chr10:27324943..27326466-chr10:27346953..27349698,2	K562	blood:
9	chr10:27334951..27337235-chr10:27340000..27342042,2	K562	blood:
10	chr10:27372339..27374779-chr10:27377034..27379587,2	K562	blood:
11	chr10:27335269..27338049-chr10:27342616..27344346,2	K562	blood:
12	chr10:27337597..27339322-chr10:27353171..27354771,2	K562	blood:
13	chr10:27335269..27338049-chr10:27342616..27344346,2	K562	blood:
14	chr10:27353022..27355655-chr10:27358630..27361237,2	K562	blood:
15	chr10:27353136..27355014-chr10:27355485..27358702,3	MCF-7	breast:
16	chr10:27334951..27337235-chr10:27340000..27342042,2	K562	blood:
17	chr10:27337597..27339322-chr10:27353171..27354771,2	K562	blood:
18	chr10:27342086..27344402-chr10:27388035..27390622,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YME1L1-1	chr10:27366562-27366622	NONHSAT011882
2	lnc-YME1L1-1	chr10:27368018-27368090	NONHSAT011882
3	lnc-YME1L1-1	chr10:27369578-27369649	NONHSAT011882
4	lnc-YME1L1-1	chr10:27366267-27366353	NONHSAT011881
5	lnc-YME1L1-1	chr10:27355170-27355477	NONHSAT011881
6	lnc-YME1L1-1	chr10:27356086-27356215	NONHSAT011881
7	lnc-YME1L1-1	chr10:27365952-27366469	NONHSAT011882

No data

Variant related genes	Relation type
ANKRD26	TF binding region
ENSG00000107890	chromatin interactions
ENSG00000199855	chromatin interactions

Extended variants
information (count: 1936 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7087082	chr10:27325119-27325120	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1197582	chr10:27325127-27325128	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549925427	chr10:27325159-27325160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11015466	chr10:27325164-27325165	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs535535305	chr10:27325165-27325166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555477551	chr10:27325210-27325211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188032494	chr10:27325213-27325214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535065971	chr10:27325239-27325240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542201285	chr10:27325266-27325267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78262309	chr10:27325274-27325275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2026120	chr10:27325277-27325278	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs79748693	chr10:27325286-27325287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80042936	chr10:27325301-27325302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543368234	chr10:27325307-27325308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189702604	chr10:27325417-27325418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183392778	chr10:27325431-27325432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118126788	chr10:27325433-27325434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386742206	chr10:27325446-27325447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11015468	chr10:27325447-27325448	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs187708024	chr10:27325448-27325449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551315116	chr10:27325452-27325453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570272935	chr10:27325507-27325508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150266019	chr10:27325513-27325514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533645567	chr10:27325522-27325523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551058188	chr10:27325530-27325531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61589213	chr10:27325540-27325541	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369712951	chr10:27325601-27325602	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1206718	chr10:27325603-27325604	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117937107	chr10:27325783-27325784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10829166	chr10:27325811-27325812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs566119586	chr10:27325829-27325830	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534818955	chr10:27325853-27325854	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547565008	chr10:27325858-27325859	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141770222	chr10:27325890-27325891	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559847108	chr10:27325910-27325911	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567153528	chr10:27325944-27325945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192171184	chr10:27325972-27325973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571573501	chr10:27325987-27325988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35564547	chr10:27325997-27325998	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs11015469	chr10:27326014-27326015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs66494764	chr10:27326017-27326018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78503631	chr10:27326021-27326022	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34737657	chr10:27326032-27326033	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553212014	chr10:27326048-27326049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572859424	chr10:27326051-27326052	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs41279940	chr10:27326057-27326058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79496960	chr10:27326098-27326099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370796881	chr10:27326106-27326107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200788967	chr10:27326132-27326133	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61730098	chr10:27326133-27326134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27283200-27388400	Weak transcription	Psoas Muscle	Psoas
2	chr10:27287000-27350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:27287800-27350600	Weak transcription	Aorta	Aorta
4	chr10:27288400-27329400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:27288800-27357000	Weak transcription	Gastric	stomach
6	chr10:27289200-27361200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:27289600-27360800	Weak transcription	Hela-S3	cervix
8	chr10:27289800-27360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:27290200-27351400	Weak transcription	Thymus	Thymus
10	chr10:27290200-27361400	Weak transcription	Placenta	Placenta
11	chr10:27290800-27326800	Weak transcription	Osteobl	bone
12	chr10:27291400-27360600	Weak transcription	Lung	lung
13	chr10:27291600-27325200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:27291600-27331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:27291600-27351000	Weak transcription	NHLF	lung
16	chr10:27291600-27388000	Weak transcription	Small Intestine	intestine
17	chr10:27291800-27325600	Weak transcription	Primary B cells from cord blood	blood
18	chr10:27292000-27362200	Weak transcription	Fetal Brain Male	brain
19	chr10:27292200-27334800	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:27293600-27340200	Weak transcription	A549	lung
21	chr10:27295600-27328800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:27295600-27345800	Weak transcription	Brain Angular Gyrus	brain
23	chr10:27298800-27328800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:27303600-27361000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:27304800-27329000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:27306000-27329200	Weak transcription	Fetal Muscle Leg	muscle
27	chr10:27306000-27360800	Weak transcription	Esophagus	oesophagus
28	chr10:27306800-27329600	Weak transcription	NHEK	skin
29	chr10:27309000-27326000	Weak transcription	NH-A	brain
30	chr10:27309400-27334800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr10:27310200-27332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr10:27310400-27332200	Weak transcription	Fetal Heart	heart
33	chr10:27310600-27329400	Weak transcription	HSMMtube	muscle
34	chr10:27312600-27330200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:27312800-27329200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:27312800-27335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:27312800-27358200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:27313200-27363400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr10:27313600-27325600	Weak transcription	HUVEC	blood vessel
43	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:27314800-27327000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:27314800-27327400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:27315600-27329000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:27315800-27327400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:27317400-27351800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:27318200-27357400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:27318400-27350600	Weak transcription	Primary B cells from peripheral blood	blood

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