Variant report

Variant	nsv977740
Chromosome Location	chr15:79094929-79099012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:79096742-79097156	ECC-1	luminal epithelium:	n/a	n/a
2	CTBP2	chr15:79096758-79097136	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:79098707-79098738	GM10248	blood:	n/a	n/a
4	CTCF	chr15:79095615-79095700	LNCaP	prostate:	n/a	n/a
5	CTCF	chr15:79097455-79097584	Kidney_OC	kidney:	n/a	n/a
6	EP300	chr15:79096570-79097360	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr15:79096583-79097259	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr15:79096635-79097234	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr15:79096622-79097199	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr15:79096592-79097143	ECC-1	luminal epithelium:	n/a	n/a
11	FOXM1	chr15:79096644-79097213	ECC-1	luminal epithelium:	n/a	n/a
12	GTF2F1	chr15:79096762-79097005	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr15:79096742-79097258	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr15:79096754-79097253	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr15:79096610-79097283	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr15:79096599-79097302	ECC-1	luminal epithelium:	n/a	n/a
17	NR3C1	chr15:79096655-79097098	ECC-1	luminal epithelium:	n/a	chr15:79096985-79096992 chr15:79096928-79096941 chr15:79096842-79096849
18	POLR2A	chr15:79098290-79098327	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:79096781-79097131	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr15:79098328-79098432	HepG2	liver:	n/a	n/a
21	RAD21	chr15:79096762-79097216	ECC-1	luminal epithelium:	n/a	n/a
22	STAT3	chr15:79097138-79097304	MCF10A-Er-Src	breast:	n/a	chr15:79097218-79097229
23	STAT3	chr15:79097096-79097412	MCF10A-Er-Src	breast:	n/a	chr15:79097218-79097229
24	STAT3	chr15:79097062-79097383	MCF10A-Er-Src	breast:	n/a	chr15:79097218-79097229
25	STAT3	chr15:79097062-79097444	MCF10A-Er-Src	breast:	n/a	chr15:79097218-79097229
26	TCF12	chr15:79096575-79097297	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr15:79096555-79097303	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr15:79096621-79097220	ECC-1	luminal epithelium:	n/a	n/a
29	TEAD4	chr15:79096792-79097034	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr15:79096685-79097218	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr15:79096620-79097221	ECC-1	luminal epithelium:	n/a	n/a
32	USF1	chr15:79096755-79097012	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr15:79096774-79097225	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79096751-79096801	MCF10A-Er-Src	breast:	n/a
2	chr15:79096751-79096801	HRE	kidney:	n/a
3	chr15:79096751-79096801	AG09309	skin:	n/a
4	chr15:79096751-79096801	ovcar-3	ovarian:	n/a
5	chr15:79096751-79096801	PFSK-1	brain:	n/a
6	chr15:79096751-79096801	AG04449	skin:	fetal
7	chr15:79096751-79096801	SAEC	small airway:	n/a
8	chr15:79096751-79096801	GM06990	blood:	n/a
9	chr15:79096751-79096801	NHDF-neo	bronchial:	n/a
10	chr15:79096751-79096801	BJ	skin:	n/a
11	chr15:79096751-79096801	AoSMC	blood vessel:	n/a
12	chr15:79096751-79096801	NH-A	brain:	n/a
13	chr15:79096751-79096801	Caco-2	colon:	n/a
14	chr15:79096751-79096801	H1-hESC	embryonic stem cell:	embryo
15	chr15:79096751-79096801	PANC-1	pancreas:	n/a
16	chr15:79096751-79096801	GM12891	blood:	n/a
17	chr15:79096751-79096801	PrEC	prostate:	n/a
18	chr15:79096751-79096801	HepG2	liver:	n/a
19	chr15:79096751-79096801	HCF	heart:	n/a
20	chr15:79096751-79096801	A549	lung:	n/a
21	chr15:79096751-79096801	HCM	heart:	n/a
22	chr15:79096751-79096801	ProgFib	skin:	n/a
23	chr15:79096751-79096801	HEK293	kidney:	embryo
24	chr15:79096751-79096801	GM12892	blood:	n/a
25	chr15:79096751-79096801	AG04450	lung:	fetal
26	chr15:79096751-79096801	HEEpiC	esophagus:	n/a
27	chr15:79096751-79096801	U87	brain:	n/a
28	chr15:79096751-79096801	SKMC	muscle:	n/a
29	chr15:79096751-79096801	T-47D	breast:	n/a
30	chr15:79096751-79096801	IMR90	lung:	fetal
31	chr15:79096751-79096801	HAEpiC	amniotic membrane:	n/a
32	chr15:79096751-79096801	RPTEC	kidney:	n/a
33	chr15:79096751-79096801	HNPCEpiC	eye:	n/a
34	chr15:79096751-79096801	AG10803	skin:	n/a
35	chr15:79096751-79096801	HIPEpiC	eye:	n/a
36	chr15:79096751-79096801	NB4	blood:	n/a
37	chr15:79096751-79096801	LNCaP	prostate:	n/a
38	chr15:79096751-79096801	HUVEC	blood vessel:	n/a
39	chr15:79096751-79096801	NHBE	bronchial:	n/a
40	chr15:79096751-79096801	NT2-D1	testis:	n/a
41	chr15:79096751-79096801	GM19239	blood:	n/a
42	chr15:79096751-79096801	HL-60	blood:	n/a
43	chr15:79096751-79096801	ECC-1	luminal epithelium:	n/a
44	chr15:79096751-79096801	SK-N-SH	brain:	n/a
45	chr15:79096751-79096801	HCT-116	colon:	n/a
46	chr15:79096751-79096801	HRCEpiC	kidney:	n/a
47	chr15:79096751-79096801	GM12878	blood:	n/a
48	chr15:79096751-79096801	CMK	blood:	n/a
49	chr15:79096751-79096801	HCPEpiC	choroid plexus:	n/a
50	chr15:79096751-79096801	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79095528..79098098-chr15:79101910..79104531,2	MCF-7	breast:
2	chr15:79097262..79100140-chr15:79101746..79103846,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS7	TF binding region
MORF4L1	TF binding region
ADAMTS7	CpG island
MORF4L1	CpG island
ENSG00000136378	chromatin interactions
ENSG00000185787	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151161474	chr15:79094933-79094934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562341901	chr15:79095001-79095002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182204922	chr15:79095006-79095007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551177430	chr15:79095012-79095013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563036330	chr15:79095126-79095127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187223907	chr15:79095142-79095143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551805238	chr15:79095176-79095177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191595065	chr15:79095184-79095185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533897669	chr15:79095269-79095270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4887113	chr15:79095287-79095288	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567208130	chr15:79095288-79095289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145433328	chr15:79095293-79095294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138161431	chr15:79095294-79095295	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577721989	chr15:79095317-79095318	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182878310	chr15:79095392-79095393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538366286	chr15:79095411-79095412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553798641	chr15:79095490-79095491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572094664	chr15:79095509-79095510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113984693	chr15:79095540-79095541	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75576706	chr15:79095552-79095553	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs62012657	chr15:79095554-79095555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569248369	chr15:79095572-79095573	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56712628	chr15:79095639-79095640	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs142659815	chr15:79095669-79095670	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs77739791	chr15:79095718-79095719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574374934	chr15:79095719-79095720	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112343491	chr15:79095796-79095797	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11447592	chr15:79095797-79095798	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544864709	chr15:79095808-79095809	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111561768	chr15:79095815-79095816	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562943875	chr15:79095954-79095955	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114189680	chr15:79095958-79095959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539482374	chr15:79095983-79095984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373830107	chr15:79095984-79095985	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144841242	chr15:79096038-79096039	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527714451	chr15:79096107-79096108	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548956746	chr15:79096122-79096123	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187174256	chr15:79096124-79096125	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576074693	chr15:79096164-79096165	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149555544	chr15:79096165-79096166	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566897042	chr15:79096186-79096187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369907367	chr15:79096193-79096194	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs72747319	chr15:79096231-79096232	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558981218	chr15:79096240-79096241	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115209780	chr15:79096260-79096261	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538800458	chr15:79096318-79096319	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534391970	chr15:79096359-79096360	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553616609	chr15:79096415-79096416	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs8041974	chr15:79096427-79096428	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536290898	chr15:79096432-79096433	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
2	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
4	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
7	chr15:79082800-79096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
10	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
11	chr15:79088200-79096800	Weak transcription	Brain Angular Gyrus	brain
12	chr15:79088600-79096400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:79088800-79102600	Weak transcription	Ovary	ovary
14	chr15:79089400-79096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:79090000-79096400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:79090200-79096400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:79090200-79101000	Weak transcription	Fetal Lung	lung
18	chr15:79090200-79101000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:79090400-79095600	Weak transcription	Fetal Intestine Small	intestine
20	chr15:79090400-79096200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:79090400-79096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:79090400-79096200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:79090400-79096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:79090400-79096400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:79090400-79096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:79090600-79095000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:79090600-79096200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:79090600-79096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:79090600-79097000	Weak transcription	Brain Germinal Matrix	brain
30	chr15:79090800-79095800	Weak transcription	HSMMtube	muscle
31	chr15:79090800-79096800	Weak transcription	Left Ventricle	heart
32	chr15:79090800-79101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:79090800-79101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:79090800-79101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:79090800-79102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:79091200-79095600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:79091200-79096000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:79091200-79098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:79091200-79101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:79091200-79101400	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:79091200-79101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:79091200-79101800	Weak transcription	Right Atrium	heart
43	chr15:79091200-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:79091200-79102200	Weak transcription	Osteobl	bone
45	chr15:79091400-79096000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:79091400-79096000	Weak transcription	HSMM	muscle
47	chr15:79091400-79101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:79091400-79102000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr15:79093000-79096800	Weak transcription	Fetal Brain Female	brain
50	chr15:79093000-79102400	Weak transcription	Right Ventricle	heart

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