Variant report

Variant	nsv974600
Chromosome Location	chr15:76113497-76115134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:76114369-76114680	GM12878	blood:	n/a	n/a
2	CTCF	chr15:76114140-76114290	HMEC	breast:	n/a	n/a
3	GABPA	chr15:76115114-76115335	K562	blood:	n/a	n/a
4	PBX3	chr15:76114414-76114641	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76112768..76114587-chr15:76115291..76118050,2	MCF-7	breast:
2	chr15:76113468..76116028-chr15:76134494..76136354,2	MCF-7	breast:
3	chr15:76113812..76116498-chr15:76121145..76123041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252372	TF binding region
ENSG00000140367	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202033853	chr15:76113548-76113549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2593283	chr15:76113613-76113614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572313748	chr15:76113631-76113632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79041803	chr15:76113731-76113732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182189045	chr15:76113735-76113736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567853157	chr15:76113760-76113761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538490057	chr15:76113785-76113786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556900036	chr15:76113825-76113826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111952869	chr15:76113847-76113848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538653475	chr15:76113872-76113873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541557469	chr15:76113873-76113874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs56097388	chr15:76113875-76113876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572135702	chr15:76113914-76113915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12906546	chr15:76113936-76113937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561178744	chr15:76113951-76113952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543682412	chr15:76114016-76114017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79202573	chr15:76114045-76114046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543282919	chr15:76114049-76114050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564849680	chr15:76114088-76114089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533138047	chr15:76114118-76114119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551387272	chr15:76114136-76114137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141994859	chr15:76114141-76114142	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527826959	chr15:76114148-76114149	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs16973648	chr15:76114153-76114154	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532464867	chr15:76114162-76114163	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567799731	chr15:76114167-76114168	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538463241	chr15:76114187-76114188	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550462401	chr15:76114198-76114199	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572006119	chr15:76114227-76114228	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538616694	chr15:76114258-76114259	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186662525	chr15:76114313-76114314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572038463	chr15:76114319-76114320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76778045	chr15:76114320-76114321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536308037	chr15:76114325-76114326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35830282	chr15:76114334-76114335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17341589	chr15:76114358-76114359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576149829	chr15:76114380-76114381	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543246485	chr15:76114403-76114404	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377746126	chr15:76114433-76114434	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs1847417	chr15:76114463-76114464	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576773708	chr15:76114533-76114534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544991968	chr15:76114546-76114547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560456600	chr15:76114568-76114569	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150701791	chr15:76114569-76114570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35841557	chr15:76114610-76114611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543081329	chr15:76114628-76114629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561241142	chr15:76114649-76114650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369768194	chr15:76114676-76114677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531927358	chr15:76114729-76114730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201561695	chr15:76114752-76114753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	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
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76094600-76116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:76108600-76113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:76110000-76115600	Weak transcription	K562	blood
4	chr15:76111800-76115200	Weak transcription	Placenta	Placenta
5	chr15:76113600-76117000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:76113800-76114000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:76114000-76114200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:76114200-76114400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr15:76114200-76114400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr15:76114200-76114600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:76114200-76114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:76114200-76115000	Enhancers	NHEK	skin
13	chr15:76114200-76115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:76114400-76114600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:76114400-76114600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:76114400-76115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:76114400-76115600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:76114600-76115200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:76114600-76115600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:76114600-76115600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:76114600-76119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:76115000-76116000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr15:76115000-76116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:76115000-76119400	Weak transcription	NHEK	skin

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