Variant report

Variant	nsv963536
Chromosome Location	chr3:151191085-151212472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:151196217-151196234	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr3:151200070-151200364	K562	blood:	n/a	n/a
3	CBX3	chr3:151193943-151194523	K562	blood:	n/a	n/a
4	CEBPB	chr3:151194138-151194434	K562	blood:	n/a	n/a
5	CEBPB	chr3:151194202-151194366	K562	blood:	n/a	n/a
6	ELF1	chr3:151194105-151194521	K562	blood:	n/a	chr3:151194337-151194350
7	EP300	chr3:151194320-151194329	K562	blood:	n/a	n/a
8	EP300	chr3:151197301-151197511	SK-N-SH_RA	brain:	n/a	n/a
9	GABPA	chr3:151194034-151194491	K562	blood:	n/a	n/a
10	GABPA	chr3:151194040-151194472	K562	blood:	n/a	n/a
11	GATA2	chr3:151194137-151194544	K562	blood:	n/a	n/a
12	JUND	chr3:151194247-151194383	K562	blood:	n/a	n/a
13	KAP1	chr3:151200090-151200647	K562	blood:	n/a	n/a
14	MXI1	chr3:151197664-151197816	K562	blood:	n/a	n/a
15	MYC	chr3:151194317-151194339	K562	blood:	n/a	n/a
16	NFYB	chr3:151192050-151192129	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr3:151201794-151201897	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:151193654-151194091	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr3:151201448-151201710	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:151198818-151199012	MCF-7	breast:	n/a	n/a
21	RAD21	chr3:151194227-151194582	H1-hESC	embryonic stem cell:	n/a	n/a
22	SETDB1	chr3:151199776-151200620	U2OS	brain:	n/a	n/a
23	SPI1	chr3:151205722-151205902	HL-60	blood:	n/a	n/a
24	SPI1	chr3:151205719-151205886	K562	blood:	n/a	n/a
25	SPI1	chr3:151205723-151205868	GM12878	blood:	n/a	n/a
26	STAT3	chr3:151200000-151200018	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr3:151211362-151211546	MCF10A-Er-Src	breast:	n/a	n/a
28	TAL1	chr3:151202111-151202207	K562	blood:	n/a	n/a
29	TAL1	chr3:151194233-151194492	K562	blood:	n/a	n/a
30	TFAP2A	chr3:151195677-151196106	Hela-S3	cervix:	n/a	chr3:151195886-151195900 chr3:151195888-151195898 chr3:151195888-151195898 chr3:151195888-151195898
31	TFAP2C	chr3:151195677-151196112	Hela-S3	cervix:	n/a	chr3:151195884-151195899
32	YY1	chr3:151197814-151197971	K562	blood:	n/a	n/a
33	ZMIZ1	chr3:151194300-151194407	K562	blood:	n/a	n/a
34	ZNF143	chr3:151200196-151200311	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:151194378..151197390-chr3:151198956..151201017,3	K562	blood:
2	chr3:151189546..151191159-chr3:151195430..151197288,2	K562	blood:
3	chr3:151198937..151201376-chr3:151218846..151221278,2	K562	blood:
4	chr3:151194512..151197390-chr3:151199277..151201017,2	K562	blood:
5	chr3:151189546..151191159-chr3:151195430..151197288,2	K562	blood:
6	chr3:151194512..151197390-chr3:151199277..151201017,2	K562	blood:
7	chr3:151194378..151197390-chr3:151198956..151201017,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGSF10-3	chr3:151193592-151193962	NONHSAT092725

No data

Variant related genes	Relation type
ENSG00000242119	TF binding region
MRPL42P6	TF binding region

Extended variants
information (count: 908 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139546219	chr3:151191107-151191108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566440101	chr3:151191114-151191115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528621661	chr3:151191122-151191123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190969335	chr3:151191151-151191152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569146376	chr3:151191172-151191173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115779118	chr3:151191176-151191177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554355503	chr3:151191185-151191186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146322630	chr3:151191187-151191188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377183670	chr3:151191189-151191190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574334297	chr3:151191210-151191211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540037254	chr3:151191281-151191282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116249840	chr3:151191355-151191356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370225012	chr3:151191388-151191389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4343605	chr3:151191391-151191392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545400978	chr3:151191415-151191416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182678673	chr3:151191466-151191467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142856922	chr3:151191476-151191477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370570856	chr3:151191502-151191503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544877432	chr3:151191530-151191531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547526756	chr3:151191596-151191597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556873230	chr3:151191604-151191605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544152009	chr3:151191652-151191653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530364223	chr3:151191699-151191700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551787375	chr3:151191724-151191725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151067436	chr3:151191806-151191807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115408378	chr3:151191870-151191871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140255822	chr3:151191890-151191891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149931807	chr3:151191988-151191989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568721436	chr3:151191993-151191994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537440253	chr3:151192018-151192019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537064434	chr3:151192032-151192033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9863245	chr3:151192038-151192039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185449086	chr3:151192079-151192080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62281718	chr3:151192140-151192141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553652448	chr3:151192237-151192238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370140341	chr3:151192256-151192257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190254276	chr3:151192314-151192315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145034868	chr3:151192344-151192345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545945749	chr3:151192345-151192346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142263203	chr3:151192352-151192353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575748673	chr3:151192374-151192375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544614169	chr3:151192385-151192386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182552770	chr3:151192408-151192409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534825157	chr3:151192492-151192493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575168199	chr3:151192495-151192496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540842795	chr3:151192510-151192511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4484172	chr3:151192573-151192574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532235514	chr3:151192606-151192607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201266442	chr3:151192612-151192613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552028371	chr3:151192626-151192627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151179200-151194200	Weak transcription	Ovary	ovary
2	chr3:151188600-151194000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:151193800-151197600	Enhancers	Fetal Lung	lung
4	chr3:151194000-151194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:151194000-151194400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:151194000-151194400	Flanking Active TSS	K562	blood
7	chr3:151194000-151195000	Enhancers	Colon Smooth Muscle	Colon
8	chr3:151194000-151195000	Enhancers	Fetal Heart	heart
9	chr3:151194000-151195200	Enhancers	Fetal Stomach	stomach
10	chr3:151194200-151194600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:151194200-151194600	Enhancers	Fetal Muscle Leg	muscle
12	chr3:151194200-151194800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:151194200-151194800	Enhancers	Ovary	ovary
14	chr3:151194200-151194800	Enhancers	Right Atrium	heart
15	chr3:151194200-151195000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:151194400-151194800	Enhancers	K562	blood
17	chr3:151194400-151195800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:151194400-151197000	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:151194600-151194800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:151194600-151195600	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:151194600-151196400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:151194800-151195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:151194800-151195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:151194800-151195800	Weak transcription	Ovary	ovary
25	chr3:151194800-151195800	Weak transcription	Right Atrium	heart
26	chr3:151195000-151195400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:151195000-151196000	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:151195200-151195600	Weak transcription	Fetal Stomach	stomach
29	chr3:151195200-151196000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:151195400-151196200	Enhancers	Adipose Nuclei	Adipose
31	chr3:151195400-151196200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:151195400-151196400	Enhancers	Hela-S3	cervix
33	chr3:151195400-151196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:151195400-151196600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:151195400-151196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:151195400-151196600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:151195400-151196600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:151195400-151196800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:151195600-151196000	Enhancers	Fetal Muscle Leg	muscle
40	chr3:151195600-151197000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:151195600-151198400	Enhancers	Fetal Stomach	stomach
42	chr3:151195800-151196000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:151195800-151196000	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:151195800-151196000	Enhancers	Right Atrium	heart
45	chr3:151195800-151196200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:151195800-151196200	Enhancers	Fetal Kidney	kidney
47	chr3:151195800-151196400	Enhancers	Ovary	ovary
48	chr3:151195800-151196600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:151195800-151197000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:151196000-151196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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