Variant report

Variant	nsv1006455
Chromosome Location	chr3:25277328-25327235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:25309716..25310544-chr7:113865351..113866074,2	MCF-7	breast:
2	chr3:25273667..25275678-chr3:25276657..25278966,2	K562	blood:
3	chr3:25268545..25270522-chr3:25294614..25297344,2	K562	blood:
4	chr3:25304103..25305628-chr3:25307690..25309808,2	K562	blood:
5	chr3:25304103..25305628-chr3:25307690..25309808,2	K562	blood:
6	chr3:25295460..25296960-chr8:144924480..144925983,2	K562	blood:

Extended variants
information (count: 1923 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1923 , 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	rs550158149	chr3:25277340-25277341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561585570	chr3:25277354-25277355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563489374	chr3:25277355-25277356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532369148	chr3:25277396-25277397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552294225	chr3:25277424-25277425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184182127	chr3:25277450-25277451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189341277	chr3:25277465-25277466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149027805	chr3:25277476-25277477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192379952	chr3:25277479-25277480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73044261	chr3:25277494-25277495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35097065	chr3:25277514-25277515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576144289	chr3:25277573-25277574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143046379	chr3:25277615-25277616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558713853	chr3:25277627-25277628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185625005	chr3:25277665-25277666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541234909	chr3:25277675-25277676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200083693	chr3:25277695-25277696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554426684	chr3:25277714-25277715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574680288	chr3:25277732-25277733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546390762	chr3:25277757-25277758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563590044	chr3:25277762-25277763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532405335	chr3:25277829-25277830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545772681	chr3:25277838-25277839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559445414	chr3:25277839-25277840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371607232	chr3:25277853-25277854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528532522	chr3:25277951-25277952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548775241	chr3:25277955-25277956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568605579	chr3:25277971-25277972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531121806	chr3:25278035-25278036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551022438	chr3:25278050-25278051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571135831	chr3:25278051-25278052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200692467	chr3:25278059-25278060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113558609	chr3:25278077-25278078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148265352	chr3:25278079-25278080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565789240	chr3:25278101-25278102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534373103	chr3:25278108-25278109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140394275	chr3:25278127-25278128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532552493	chr3:25278135-25278136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543588022	chr3:25278190-25278191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556866241	chr3:25278224-25278225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371852502	chr3:25278226-25278227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73149259	chr3:25278269-25278270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545809519	chr3:25278300-25278301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559283899	chr3:25278301-25278302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1017421	chr3:25278314-25278315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541997540	chr3:25278320-25278321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540234332	chr3:25278326-25278327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562192592	chr3:25278363-25278364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531036932	chr3:25278364-25278365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551126012	chr3:25278368-25278369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25276200-25277400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:25276200-25277400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:25276600-25288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:25277400-25278000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:25278000-25278200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:25288200-25288400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:25288400-25288800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:25288400-25288800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:25288400-25290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:25288600-25289200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:25289200-25291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:25290800-25291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:25291200-25292200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:25291600-25292000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:25292200-25308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:25293000-25308400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:25298400-25299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:25298400-25299400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:25298600-25299000	Enhancers	NH-A	brain
20	chr3:25299000-25301400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:25301000-25301400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:25301000-25301600	Enhancers	Brain Hippocampus Middle	brain
23	chr3:25301200-25301600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:25301200-25302000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:25301400-25301800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:25301400-25301800	Enhancers	Brain Substantia Nigra	brain
27	chr3:25301400-25301800	Enhancers	Esophagus	oesophagus
28	chr3:25301600-25302200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:25301800-25306400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:25302000-25308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:25306200-25307600	Enhancers	Dnd41	blood
32	chr3:25306400-25307000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:25306400-25307200	Enhancers	Primary T cells from cord blood	blood
34	chr3:25306400-25307400	Enhancers	Fetal Thymus	thymus
35	chr3:25306400-25308400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:25307600-25308600	Weak transcription	Dnd41	blood
37	chr3:25308200-25308400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:25308200-25308800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:25308200-25308800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:25308200-25308800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:25308400-25308600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:25308600-25308800	Enhancers	Dnd41	blood
43	chr3:25312200-25315600	Weak transcription	Aorta	Aorta
44	chr3:25313600-25314000	Enhancers	Left Ventricle	heart
45	chr3:25313600-25315400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:25313800-25314000	Enhancers	Fetal Heart	heart
47	chr3:25322200-25322600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:25322600-25323000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:25322600-25323400	Enhancers	Brain Germinal Matrix	brain
50	chr3:25322600-25324600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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