Variant report

Variant	esv3370394
Chromosome Location	chr16:31234476-31237024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:31236565-31236748	K562	blood:	n/a	n/a
2	ZNF384	chr16:31236489-31236932	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31235535-31235585	HCT-116	colon:	n/a
2	chr16:31236039-31236089	PFSK-1	brain:	n/a
3	chr16:31236039-31236089	HepG2	liver:	n/a
4	chr16:31235706-31235756	NT2-D1	testis:	n/a
5	chr16:31235535-31235585	AoSMC	blood vessel:	n/a
6	chr16:31235706-31235756	T-47D	breast:	n/a
7	chr16:31235824-31235874	GM12891	blood:	n/a
8	chr16:31235824-31235874	NT2-D1	testis:	n/a
9	chr16:31235706-31235756	ovcar-3	ovarian:	n/a
10	chr16:31235706-31235756	AG04450	lung:	fetal
11	chr16:31235824-31235874	SKMC	muscle:	n/a
12	chr16:31236039-31236089	SKMC	muscle:	n/a
13	chr16:31235535-31235585	CMK	blood:	n/a
14	chr16:31235535-31235585	T-47D	breast:	n/a
15	chr16:31235535-31235585	NT2-D1	testis:	n/a
16	chr16:31235535-31235585	HUVEC	blood vessel:	n/a
17	chr16:31236039-31236089	HNPCEpiC	eye:	n/a
18	chr16:31236039-31236089	Hela-S3	cervix:	n/a
19	chr16:31235535-31235585	GM12892	blood:	n/a
20	chr16:31235824-31235874	Hela-S3	cervix:	n/a
21	chr16:31235535-31235585	AG09319	gingival:	n/a
22	chr16:31236039-31236089	HCT-116	colon:	n/a
23	chr16:31235535-31235585	K562	blood:	n/a
24	chr16:31236039-31236089	RPTEC	kidney:	n/a
25	chr16:31235706-31235756	RPTEC	kidney:	n/a
26	chr16:31236039-31236089	NHDF-neo	bronchial:	n/a
27	chr16:31235706-31235756	GM12878	blood:	n/a
28	chr16:31236039-31236089	T-47D	breast:	n/a
29	chr16:31235824-31235874	HCF	heart:	n/a
30	chr16:31235824-31235874	T-47D	breast:	n/a
31	chr16:31236039-31236089	HCM	heart:	n/a
32	chr16:31236039-31236089	BE2_C	brain:	n/a
33	chr16:31236039-31236089	HMEC	breast:	n/a
34	chr16:31235824-31235874	ovcar-3	ovarian:	n/a
35	chr16:31235535-31235585	HRE	kidney:	n/a
36	chr16:31235706-31235756	HMEC	breast:	n/a
37	chr16:31235535-31235585	ovcar-3	ovarian:	n/a
38	chr16:31235706-31235756	Jurkat	blood:	n/a
39	chr16:31235824-31235874	NB4	blood:	n/a
40	chr16:31235706-31235756	HL-60	blood:	n/a
41	chr16:31235824-31235874	Hepatocyte	liver:	n/a
42	chr16:31236039-31236089	HL-60	blood:	n/a
43	chr16:31235706-31235756	LNCaP	prostate:	n/a
44	chr16:31235824-31235874	GM19239	blood:	n/a
45	chr16:31235706-31235756	AG09319	gingival:	n/a
46	chr16:31235535-31235585	Jurkat	blood:	n/a
47	chr16:31235824-31235874	AG04449	skin:	fetal
48	chr16:31235824-31235874	Caco-2	colon:	n/a
49	chr16:31235706-31235756	AoSMC	blood vessel:	n/a
50	chr16:31235706-31235756	NH-A	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31231842..31234497-chr16:31258086..31260993,2	K562	blood:
2	chr16:31229524..31232280-chr16:31234140..31236879,3	MCF-7	breast:
3	chr16:31225061..31229339-chr16:31234222..31239323,4	MCF-7	breast:
4	chr16:31228568..31232083-chr16:31234604..31238425,4	K562	blood:
5	chr16:31190075..31193214-chr16:31233435..31236932,3	MCF-7	breast:
6	chr16:31202771..31204452-chr16:31233343..31235697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261925	TF binding region
ENSG00000261925	CpG island
ENSG00000089280	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000169900	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538283569	chr16:31234494-31234495	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs567583125	chr16:31234507-31234508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550239889	chr16:31234508-31234509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs568824480	chr16:31234511-31234512	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189942125	chr16:31234515-31234516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs377028054	chr16:31234537-31234538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370044605	chr16:31234557-31234558	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144939097	chr16:31234575-31234576	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs567098482	chr16:31234599-31234600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73532246	chr16:31234600-31234601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149043964	chr16:31234708-31234709	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531504689	chr16:31234710-31234711	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs577285903	chr16:31234725-31234726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566724550	chr16:31234824-31234825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370400734	chr16:31234825-31234826	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs61511265	chr16:31234842-31234843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59532700	chr16:31234972-31234973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141450121	chr16:31234991-31234992	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574801842	chr16:31234995-31234996	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs71374053	chr16:31235063-31235064	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs386384608	chr16:31235064-31235065	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542314597	chr16:31235066-31235067	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376506088	chr16:31235068-31235069	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537763280	chr16:31235078-31235079	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573394944	chr16:31235098-31235099	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs556009645	chr16:31235099-31235100	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373328662	chr16:31235117-31235118	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564864205	chr16:31235125-31235126	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35047843	chr16:31235177-31235178	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532288344	chr16:31235221-31235222	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs182576981	chr16:31235227-31235228	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186850818	chr16:31235228-31235229	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532280596	chr16:31235325-31235326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs529749062	chr16:31235390-31235391	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs56996824	chr16:31235450-31235451	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs368260037	chr16:31235463-31235464	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547416320	chr16:31235474-31235475	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs548304381	chr16:31235476-31235477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200555243	chr16:31235515-31235516	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs150087468	chr16:31235517-31235518	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534421116	chr16:31235525-31235526	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs58585879	chr16:31235548-31235549	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368859412	chr16:31235568-31235569	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs372288148	chr16:31235572-31235573	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs141229511	chr16:31235579-31235580	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375350426	chr16:31235596-31235597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs571127764	chr16:31235598-31235599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372493107	chr16:31235605-31235606	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs112486041	chr16:31235609-31235610	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs375401025	chr16:31235634-31235635	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31227600-31239600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:31228400-31240200	Weak transcription	Right Atrium	heart
3	chr16:31228800-31240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:31230400-31238800	Strong transcription	Fetal Muscle Leg	muscle
5	chr16:31231000-31246800	Weak transcription	Psoas Muscle	Psoas
6	chr16:31232800-31236600	Weak transcription	K562	blood
7	chr16:31233000-31238000	Weak transcription	Spleen	Spleen
8	chr16:31233400-31235600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31234200-31235000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:31234200-31235800	Strong transcription	HSMM	muscle
11	chr16:31234400-31234800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:31234400-31235000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
13	chr16:31234400-31235000	Strong transcription	HSMMtube	muscle
14	chr16:31234800-31237600	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:31235000-31237200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:31235000-31237400	Weak transcription	HSMMtube	muscle
17	chr16:31235000-31240200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:31235200-31235600	Enhancers	Fetal Intestine Small	intestine
19	chr16:31235600-31236000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:31235600-31240600	Weak transcription	Fetal Intestine Small	intestine
21	chr16:31235800-31236800	Weak transcription	HSMM	muscle
22	chr16:31236000-31237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:31236600-31237000	Enhancers	K562	blood
24	chr16:31236800-31238200	Strong transcription	HSMM	muscle
25	chr16:31237000-31239600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links