Variant report

Variant	nsv877167
Chromosome Location	chr3:94430430-94554720
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94439046..94442028-chr3:94450258..94451918,2	K562	blood:
2	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
3	chr3:94439046..94442028-chr3:94450258..94451918,2	K562	blood:
4	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
5	chr3:94054789..94056012-chr3:94435236..94436188,3	MCF-7	breast:
6	chr3:94474207..94475798-chr3:94476366..94479131,2	MCF-7	breast:
7	chr3:94054880..94055822-chr3:94435163..94435841,3	MCF-7	breast:
8	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
9	chr3:94243618..94244324-chr3:94435214..94436130,5	MCF-7	breast:
10	chr3:94474207..94475798-chr3:94476366..94479131,2	MCF-7	breast:
11	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
12	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
13	chr3:94241478..94242035-chr3:94435189..94435701,2	MCF-7	breast:
14	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
15	chr3:94243814..94244533-chr3:94435293..94436192,2	MCF-7	breast:

No data

Extended variants
information (count: 559 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137993108	chr3:94433258-94433259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370696884	chr3:94433279-94433280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575555111	chr3:94433340-94433341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568794489	chr3:94433359-94433360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143251254	chr3:94433421-94433422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557637468	chr3:94433431-94433432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537628052	chr3:94433449-94433450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554713944	chr3:94433484-94433485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566660306	chr3:94433563-94433564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556286903	chr3:94435002-94435003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371906229	chr3:94435012-94435013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542198760	chr3:94435029-94435030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564255381	chr3:94435047-94435048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544228551	chr3:94435084-94435085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187735310	chr3:94435087-94435088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541240115	chr3:94435098-94435099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112159678	chr3:94435129-94435130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190180629	chr3:94435168-94435169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564311521	chr3:94435221-94435222	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532079223	chr3:94435258-94435259	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369695053	chr3:94435363-94435364	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114997190	chr3:94435365-94435366	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531332463	chr3:94435402-94435403	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548218207	chr3:94435403-94435404	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528988078	chr3:94435412-94435413	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527552025	chr3:94435448-94435449	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547636672	chr3:94435470-94435471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570615570	chr3:94435560-94435561	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182775824	chr3:94435570-94435571	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558438427	chr3:94446826-94446827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551763154	chr3:94446829-94446830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116618796	chr3:94446849-94446850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114160031	chr3:94446859-94446860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181720639	chr3:94446911-94446912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574883462	chr3:94446928-94446929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534252085	chr3:94446933-94446934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150191370	chr3:94446937-94446938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138858160	chr3:94446946-94446947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149365599	chr3:94446947-94446948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546400185	chr3:94446962-94446963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186032431	chr3:94446983-94446984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575004952	chr3:94447006-94447007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190837742	chr3:94447013-94447014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114601933	chr3:94447058-94447059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529623278	chr3:94447071-94447072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546614243	chr3:94447106-94447107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144554954	chr3:94447133-94447134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548152730	chr3:94447137-94447138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532258838	chr3:94447160-94447161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369383048	chr3:94447166-94447167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94433200-94433600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:94435000-94435200	Enhancers	Liver	Liver
3	chr3:94435200-94435600	Flanking Active TSS	Liver	Liver
4	chr3:94435200-94435600	Enhancers	Fetal Intestine Large	intestine
5	chr3:94446800-94447200	Enhancers	Ovary	ovary
6	chr3:94447000-94447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:94451800-94452200	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:94452400-94452800	Enhancers	Hela-S3	cervix
9	chr3:94452800-94453000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:94452800-94454000	Weak transcription	Hela-S3	cervix
11	chr3:94454000-94454600	Enhancers	Hela-S3	cervix
12	chr3:94454200-94454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:94454600-94455600	Weak transcription	Hela-S3	cervix
14	chr3:94455800-94456000	Enhancers	Hela-S3	cervix
15	chr3:94477200-94477600	Enhancers	Fetal Intestine Large	intestine
16	chr3:94477200-94478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:94491200-94491800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:94506200-94507200	Enhancers	Fetal Brain Male	brain
19	chr3:94510000-94510600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:94529000-94529200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:94529600-94530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:94530600-94531000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:94539600-94539800	Enhancers	Fetal Brain Female	brain
24	chr3:94539600-94540600	Enhancers	Fetal Brain Male	brain
25	chr3:94540000-94540600	Weak transcription	Fetal Brain Female	brain
26	chr3:94540600-94540800	Enhancers	Fetal Brain Female	brain
27	chr3:94540800-94541800	Weak transcription	Fetal Brain Female	brain
28	chr3:94542000-94542200	Enhancers	Fetal Brain Female	brain
29	chr3:94548200-94549200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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