Variant report

Variant	esv3366004
Chromosome Location	chr16:77252415-77252904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:77223216..77226884-chr16:77251990..77255920,6	MCF-7	breast:
2	chr16:77251729..77253514-chr16:77255213..77256773,2	MCF-7	breast:
3	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:

Variant related genes	Relation type
ENSG00000103111	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570322133	chr16:77252419-77252420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541911815	chr16:77252426-77252427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12933649	chr16:77252438-77252439	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs201342477	chr16:77252473-77252474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11643651	chr16:77252475-77252476	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34625131	chr16:77252495-77252496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12933678	chr16:77252503-77252504	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371811649	chr16:77252564-77252565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566031698	chr16:77252572-77252573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532993079	chr16:77252588-77252589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11640189	chr16:77252603-77252604	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569525638	chr16:77252610-77252611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528986732	chr16:77252678-77252679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77839410	chr16:77252687-77252688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554978540	chr16:77252692-77252693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575030922	chr16:77252705-77252706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557631214	chr16:77252706-77252707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534508533	chr16:77252708-77252709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111852734	chr16:77252709-77252710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10153142	chr16:77252719-77252720	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs146137245	chr16:77252720-77252721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554958453	chr16:77252730-77252731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369436719	chr16:77252731-77252732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12934134	chr16:77252736-77252737	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs556521411	chr16:77252744-77252745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60318696	chr16:77252745-77252746	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs8060017	chr16:77252753-77252754	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555576302	chr16:77252758-77252759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572704421	chr16:77252768-77252769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148617917	chr16:77252810-77252811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144230177	chr16:77252834-77252835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559197832	chr16:77252847-77252848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs8058937	chr16:77252854-77252855	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554407889	chr16:77252858-77252859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184034273	chr16:77252872-77252873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563308341	chr16:77252896-77252897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57148043	chr16:77252899-77252900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189726131	chr16:77252901-77252902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Colorectal cancer	22860045	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77247200-77253600	Weak transcription	Fetal Lung	lung
2	chr16:77247400-77254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:77247600-77254400	Weak transcription	Ovary	ovary
4	chr16:77247600-77257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:77247800-77253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:77247800-77257400	Weak transcription	Esophagus	oesophagus
7	chr16:77247800-77261600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:77248400-77253200	Weak transcription	Hela-S3	cervix
9	chr16:77248400-77256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:77248600-77253200	Weak transcription	NH-A	brain
11	chr16:77248800-77253200	Weak transcription	HUVEC	blood vessel
12	chr16:77248800-77254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:77248800-77256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:77248800-77257200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:77248800-77262000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:77251200-77253000	Weak transcription	A549	lung

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