Variant report

Variant	esv8311
Chromosome Location	chr10:42527966-42529950
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:32)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:42526475..42528192-chr19:27731227..27733212,2	MCF-7	breast:
2	chr1:121484917..121485418-chr10:42529872..42530372,2	MCF-7	breast:
3	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
4	chr10:42529421..42530247-chr2:12411785..12412750,2	MCF-7	breast:
5	chr1:121484248..121485086-chr10:42528519..42529041,2	MCF-7	breast:
6	chr1:121484906..121485408-chr10:42529869..42530392,2	MCF-7	breast:
7	chr10:42528107..42529933-chr8:110778066..110779566,2	MCF-7	breast:
8	chr10:42529603..42530301-chr17:58166691..58167257,2	MCF-7	breast:
9	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
10	chr10:42528281..42529803-chr7:129794745..129796264,2	MCF-7	breast:
11	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
12	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
13	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
14	chr10:42398850..42399487-chr10:42529302..42530228,2	MCF-7	breast:
15	chr10:42529561..42531107-chr15:41406107..41408391,2	MCF-7	breast:
16	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
17	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:
18	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:
19	chr1:121482838..121485428-chr10:42529461..42532722,10	K562	blood:
20	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
21	chr1:121482838..121485428-chr10:42528872..42531081,8	K562	blood:
22	chr10:10531872..10532392-chr10:42529084..42529944,2	MCF-7	breast:
23	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
24	chr10:42528736..42531443-chr2:73087371..73089045,2	MCF-7	breast:
25	chr10:42399009..42399706-chr10:42529715..42530239,2	MCF-7	breast:
26	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
27	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
28	chr10:42398850..42399800-chr10:42529302..42530219,2	MCF-7	breast:
29	chr1:121484509..121485410-chr10:42528540..42529041,2	MCF-7	breast:
30	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
31	chr1:121482909..121485419-chr10:42527541..42532488,18	MCF-7	breast:
32	chr1:121483719..121484637-chr10:42529281..42529801,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-10	chr10:42529283-42529832	NONHSAT012852
2	lnc-BMS1-10	chr10:42529283-42529832	FPKM1_group_3228_transcript_1

No data

Variant related genes	Relation type
ENSG00000128908	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570391291	chr10:42527966-42527967	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532808149	chr10:42527970-42527971	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201142672	chr10:42527971-42527972	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201967806	chr10:42527973-42527974	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552404900	chr10:42527977-42527978	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566039473	chr10:42527978-42527979	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112838610	chr10:42527979-42527980	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112981378	chr10:42527980-42527981	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112885512	chr10:42527981-42527982	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61846339	chr10:42527982-42527983	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369265856	chr10:42527985-42527986	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372547212	chr10:42527992-42527993	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554791150	chr10:42527996-42527997	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201445023	chr10:42527997-42527998	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74206590	chr10:42527999-42528000	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376481792	chr10:42528016-42528017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199791569	chr10:42528018-42528019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111369063	chr10:42528020-42528021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183337966	chr10:42528022-42528023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199574836	chr10:42528023-42528024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187157788	chr10:42528025-42528026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200620367	chr10:42528029-42528030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375530585	chr10:42528030-42528031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568443086	chr10:42528052-42528053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537589630	chr10:42528053-42528054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12263101	chr10:42528055-42528056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12257325	chr10:42528061-42528062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374295129	chr10:42528067-42528068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201586890	chr10:42528073-42528074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199573814	chr10:42528074-42528075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200564279	chr10:42528084-42528085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61846340	chr10:42528090-42528091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200182390	chr10:42528092-42528093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557190503	chr10:42528095-42528096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74213102	chr10:42528096-42528097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577142050	chr10:42528097-42528098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546224979	chr10:42528107-42528108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183794831	chr10:42528109-42528110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61846341	chr10:42528110-42528111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553265132	chr10:42528111-42528112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573220433	chr10:42528112-42528113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542021959	chr10:42528114-42528115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561952636	chr10:42528121-42528122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199938344	chr10:42528126-42528127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75629787	chr10:42528132-42528133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112020070	chr10:42528141-42528142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187729146	chr10:42528143-42528144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370768067	chr10:42528146-42528147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374902389	chr10:42528147-42528148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75754591	chr10:42528157-42528158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42525400-42533200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42525800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:42526200-42531800	Weak transcription	NHEK	skin
4	chr10:42526800-42533000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:42527000-42528000	ZNF genes & repeats	Dnd41	blood
6	chr10:42527000-42528000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr10:42527000-42528200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:42527000-42528200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr10:42527000-42528200	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr10:42527000-42528200	ZNF genes & repeats	Small Intestine	intestine
11	chr10:42527000-42528200	ZNF genes & repeats	A549	lung
12	chr10:42527000-42528200	ZNF genes & repeats	HMEC	breast
13	chr10:42527000-42528200	ZNF genes & repeats	HUVEC	blood vessel
14	chr10:42527000-42528400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:42527000-42529200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:42527000-42530800	ZNF genes & repeats	HepG2	liver
17	chr10:42527000-42533000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr10:42527000-42533000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:42527000-42533000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:42527000-42533000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr10:42527000-42533000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr10:42527000-42533000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr10:42527000-42533000	ZNF genes & repeats	Liver	Liver
26	chr10:42527000-42533000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr10:42527000-42533000	ZNF genes & repeats	Fetal Brain Male	brain
28	chr10:42527000-42533000	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr10:42527000-42533000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr10:42527000-42533200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
31	chr10:42527000-42533200	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr10:42527000-42533200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:42527200-42528000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr10:42527200-42528000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
36	chr10:42527200-42528000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr10:42527200-42528000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr10:42527200-42528000	ZNF genes & repeats	Aorta	Aorta
39	chr10:42527200-42528000	ZNF genes & repeats	Spleen	Spleen
40	chr10:42527200-42528000	ZNF genes & repeats	GM12878-XiMat	blood
41	chr10:42527200-42528200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:42527200-42528200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:42527200-42528200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:42527200-42528200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:42527200-42528200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:42527200-42528200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr10:42527200-42528200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:42527200-42528200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr10:42527200-42528200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:42527200-42528200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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