Variant report

Variant	nsv592044
Chromosome Location	chr3:150480697-150481236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:560)
CpG islands
(count:122)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:150480940-150481121	HepG2	liver:	n/a	n/a
2	ATF2	chr3:150480894-150482108	GM12878	blood:	n/a	chr3:150480943-150480957
3	ATF2	chr3:150481190-150481591	GM12878	blood:	n/a	n/a
4	ATF3	chr3:150481197-150481578	K562	blood:	n/a	n/a
5	ATF3	chr3:150480746-150481127	HepG2	liver:	n/a	n/a
6	ATF3	chr3:150480649-150481492	A549	lung:	n/a	n/a
7	ATF3	chr3:150480753-150481109	K562	blood:	n/a	n/a
8	ATF3	chr3:150480818-150481224	K562	blood:	n/a	n/a
9	BACH1	chr3:150480818-150481889	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr3:150480798-150481274	GM12878	blood:	n/a	chr3:150480817-150480830
11	BCL3	chr3:150480727-150481555	GM12878	blood:	n/a	chr3:150480817-150480830
12	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
13	BCLAF1	chr3:150480807-150482057	GM12878	blood:	n/a	chr3:150480817-150480830
14	BHLHE40	chr3:150480726-150481935	GM12878	blood:	n/a	n/a
15	BHLHE40	chr3:150480766-150482035	HepG2	liver:	n/a	n/a
16	BHLHE40	chr3:150480786-150482009	K562	blood:	n/a	n/a
17	BRCA1	chr3:150480858-150482222	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr3:150480990-150480992	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr3:150480898-150481140	HepG2	liver:	n/a	n/a
20	CBX3	chr3:150480834-150482040	K562	blood:	n/a	n/a
21	CCNT2	chr3:150479790-150481952	K562	blood:	n/a	n/a
22	CEBPB	chr3:150480777-150481885	IMR90	lung:	n/a	n/a
23	CEBPB	chr3:150480779-150481303	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:150480858-150481078	A549	lung:	n/a	n/a
25	CEBPB	chr3:150480819-150481050	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:150480239-150481904	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:150480798-150481133	K562	blood:	n/a	n/a
28	CEBPB	chr3:150480839-150481111	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr3:150480741-150481962	MCF-7	breast:	n/a	n/a
30	CEBPB	chr3:150480787-150481115	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:150480753-150482032	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr3:150481125-150481994	GM12878	blood:	n/a	n/a
33	CEBPB	chr3:150480769-150481953	A549	lung:	n/a	n/a
34	CEBPB	chr3:150480794-150481214	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr3:150480636-150481249	A549	lung:	n/a	n/a
36	CEBPD	chr3:150480751-150481643	HepG2	liver:	n/a	n/a
37	CEBPD	chr3:150481217-150481572	HepG2	liver:	n/a	n/a
38	CHD1	chr3:150479769-150480860	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr3:150477878-150482271	GM12878	blood:	n/a	n/a
40	CHD2	chr3:150480740-150481120	HepG2	liver:	n/a	n/a
41	CHD2	chr3:150479581-150482036	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr3:150480619-150482018	GM12878	blood:	n/a	n/a
43	CREB1	chr3:150480855-150481234	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr3:150480749-150481430	A549	lung:	n/a	n/a
45	CREB1	chr3:150480735-150481464	ECC-1	luminal epithelium:	n/a	n/a
46	CREB1	chr3:150480765-150481416	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr3:150480789-150481855	GM12878	blood:	n/a	n/a
48	CREB1	chr3:150480598-150482112	HepG2	liver:	n/a	n/a
49	CREB1	chr3:150480300-150481980	A549	lung:	n/a	n/a
50	CREB1	chr3:150480631-150481389	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150480910-150480960	HNPCEpiC	eye:	n/a
2	chr3:150480910-150480960	SAEC	small airway:	n/a
3	chr3:150481126-150481176	NHDF-neo	bronchial:	n/a
4	chr3:150480910-150480960	HepG2	liver:	n/a
5	chr3:150481126-150481176	HIPEpiC	eye:	n/a
6	chr3:150481126-150481176	HCPEpiC	choroid plexus:	n/a
7	chr3:150481126-150481176	U87	brain:	n/a
8	chr3:150480910-150480960	SKMC	muscle:	n/a
9	chr3:150481126-150481176	Caco-2	colon:	n/a
10	chr3:150480910-150480960	Hela-S3	cervix:	n/a
11	chr3:150480910-150480960	GM06990	blood:	n/a
12	chr3:150481126-150481176	GM19239	blood:	n/a
13	chr3:150480910-150480960	HIPEpiC	eye:	n/a
14	chr3:150480910-150480960	Caco-2	colon:	n/a
15	chr3:150480910-150480960	NB4	blood:	n/a
16	chr3:150481126-150481176	SKMC	muscle:	n/a
17	chr3:150480910-150480960	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:150481126-150481176	HepG2	liver:	n/a
19	chr3:150480910-150480960	AG09309	skin:	n/a
20	chr3:150481126-150481176	ProgFib	skin:	n/a
21	chr3:150481126-150481176	NT2-D1	testis:	n/a
22	chr3:150480910-150480960	HRE	kidney:	n/a
23	chr3:150480910-150480960	PrEC	prostate:	n/a
24	chr3:150481126-150481176	ECC-1	luminal epithelium:	n/a
25	chr3:150481126-150481176	BJ	skin:	n/a
26	chr3:150481126-150481176	H1-hESC	embryonic stem cell:	embryo
27	chr3:150481126-150481176	MCF-7	breast:	n/a
28	chr3:150480910-150480960	MCF-7	breast:	n/a
29	chr3:150481126-150481176	Hepatocyte	liver:	n/a
30	chr3:150481126-150481176	SK-N-MC	brain:	n/a
31	chr3:150480910-150480960	GM12891	blood:	n/a
32	chr3:150480910-150480960	NHBE	bronchial:	n/a
33	chr3:150480910-150480960	GM19239	blood:	n/a
34	chr3:150481126-150481176	HRCEpiC	kidney:	n/a
35	chr3:150480910-150480960	SK-N-MC	brain:	n/a
36	chr3:150481126-150481176	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:150481126-150481176	BE2_C	brain:	n/a
38	chr3:150480910-150480960	A549	lung:	n/a
39	chr3:150480910-150480960	AG10803	skin:	n/a
40	chr3:150480910-150480960	HAEpiC	amniotic membrane:	n/a
41	chr3:150481126-150481176	AG04449	skin:	fetal
42	chr3:150481126-150481176	HEK293	kidney:	embryo
43	chr3:150481126-150481176	NH-A	brain:	n/a
44	chr3:150480910-150480960	AG04449	skin:	fetal
45	chr3:150481126-150481176	Hela-S3	cervix:	n/a
46	chr3:150481126-150481176	SK-N-SH	brain:	n/a
47	chr3:150481126-150481176	HRE	kidney:	n/a
48	chr3:150480910-150480960	CMK	blood:	n/a
49	chr3:150480910-150480960	T-47D	breast:	n/a
50	chr3:150480910-150480960	HL-60	blood:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150481130..150481712-chr3:156892681..156893423,2	Hela-S3	cervix:
2	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
3	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
4	chr16:691658..692362-chr3:150480554..150481520,2	Hela-S3	cervix:
5	chr3:150481125..150481655-chr9:127420519..127421247,2	HCT-116	colon:
6	chr3:101280431..101281099-chr3:150480190..150481106,2	Hela-S3	cervix:
7	chr14:105957367..105958177-chr3:150481138..150481891,2	Hela-S3	cervix:
8	chr3:149094494..149095113-chr3:150480059..150480937,2	Hela-S3	cervix:
9	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
10	chr15:71588021..71588700-chr3:150480360..150481079,2	Hela-S3	cervix:
11	chr1:1821467..1822293-chr3:150480860..150481460,2	Hela-S3	cervix:
12	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
13	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
14	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
15	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
16	chr20:62496000..62496902-chr3:150480890..150481564,2	Hela-S3	cervix:
17	chr1:147735548..147736307-chr3:150480950..150481574,2	HCT-116	colon:
18	chr1:165600104..165600758-chr3:150480533..150481145,2	Hela-S3	cervix:
19	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
20	chr16:70557100..70557644-chr3:150481159..150481806,2	Hela-S3	cervix:
21	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
22	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
23	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:
24	chr12:112037035..112037635-chr3:150480512..150481076,2	Hela-S3	cervix:
25	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
26	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
27	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
28	chr16:18812446..18813204-chr3:150480815..150481315,2	Hela-S3	cervix:
29	chr1:153963076..153963645-chr3:150480602..150481470,2	Hela-S3	cervix:
30	chr3:150480434..150481052-chr7:45960362..45960974,2	Hela-S3	cervix:
31	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
32	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
33	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
34	chr20:30194436..30195217-chr3:150481124..150482095,2	Hela-S3	cervix:
35	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
36	chr1:161087567..161088346-chr3:150480467..150481143,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SIAH2	TF binding region
SIAH2	CpG island
ENSG00000258099	chromatin interactions
ENSG00000197727	chromatin interactions
ENSG00000252498	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000224020	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000186468	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000174173	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000243176	chromatin interactions
ENSG00000172366	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000244668	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000271711	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000163645	chromatin interactions
ENSG00000205464	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000146674	chromatin interactions
ENSG00000240137	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000078369	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000198366	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531425393	chr3:150480779-150480780	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs541703618	chr3:150480877-150480878	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs561874482	chr3:150480905-150480906	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs146121542	chr3:150480912-150480913	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
5	rs527600235	chr3:150480960-150480961	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
6	rs547251485	chr3:150480978-150480979	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
7	rs140742852	chr3:150480984-150480985	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
8	rs532397029	chr3:150481087-150481088	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
9	rs552135162	chr3:150481119-150481120	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs569295704	chr3:150481124-150481125	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs189148609	chr3:150481210-150481211	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:150478000-150482200	Active TSS	Thymus	Thymus
3	chr3:150478200-150480800	Active TSS	Right Atrium	heart
4	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
5	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
6	chr3:150478200-150482000	Active TSS	Ovary	ovary
7	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
9	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
10	chr3:150478200-150482400	Active TSS	Placenta	Placenta
11	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
12	chr3:150478400-150482000	Active TSS	HSMM	muscle
13	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
15	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:150478600-150481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:150478600-150482000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:150478600-150482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:150478600-150482200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:150478600-150482200	Active TSS	Aorta	Aorta
21	chr3:150478600-150482400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:150478600-150482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:150478800-150481600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:150478800-150481600	Active TSS	HMEC	breast
25	chr3:150478800-150481800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:150478800-150481800	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:150478800-150482000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:150478800-150482000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr3:150478800-150482000	Active TSS	K562	blood
30	chr3:150478800-150482200	Active TSS	Psoas Muscle	Psoas
31	chr3:150478800-150482200	Active TSS	NHLF	lung
32	chr3:150479000-150481400	Active TSS	Fetal Muscle Trunk	muscle
33	chr3:150479000-150481600	Active TSS	Duodenum Mucosa	Duodenum
34	chr3:150479000-150481800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr3:150479000-150482000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:150479000-150482200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr3:150479000-150482200	Active TSS	Brain Germinal Matrix	brain
38	chr3:150479200-150481600	Active TSS	NH-A	brain
39	chr3:150479200-150481600	Active TSS	NHEK	skin
40	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:150479200-150481800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:150479200-150481800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:150479200-150481800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:150479200-150481800	Active TSS	Rectal Smooth Muscle	rectum
45	chr3:150479200-150482000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:150479200-150482000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:150479200-150482000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr3:150479200-150482200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:150479200-150482200	Active TSS	Fetal Muscle Leg	muscle
50	chr3:150479200-150482200	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links