Variant report

Variant	esv3321716
Chromosome Location	chr16:82060451-82065049
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	ATF1	chr16:82062715-82062915	K562	blood:	n/a	n/a
2	BCL3	chr16:82062723-82062977	GM12878	blood:	n/a	n/a
3	BCL3	chr16:82062677-82063053	GM12878	blood:	n/a	n/a
4	CEBPB	chr16:82061381-82061624	K562	blood:	n/a	chr16:82061432-82061440 chr16:82061491-82061502 chr16:82061469-82061486 chr16:82061472-82061483
5	CEBPB	chr16:82061316-82061658	A549	lung:	n/a	chr16:82061432-82061440 chr16:82061491-82061502 chr16:82061469-82061486 chr16:82061472-82061483
6	CEBPB	chr16:82064593-82064935	A549	lung:	n/a	chr16:82064736-82064749 chr16:82064736-82064749
7	CEBPB	chr16:82064595-82064932	IMR90	lung:	n/a	chr16:82064736-82064749 chr16:82064736-82064749
8	CEBPB	chr16:82064571-82064914	H1-hESC	embryonic stem cell:	n/a	chr16:82064736-82064749 chr16:82064736-82064749
9	CEBPB	chr16:82064599-82064922	HepG2	liver:	n/a	chr16:82064736-82064749 chr16:82064736-82064749
10	CEBPB	chr16:82064654-82064912	K562	blood:	n/a	chr16:82064736-82064749 chr16:82064736-82064749
11	CEBPB	chr16:82061327-82061645	HepG2	liver:	n/a	chr16:82061432-82061440 chr16:82061491-82061502 chr16:82061469-82061486 chr16:82061472-82061483
12	CTCF	chr16:82064840-82064990	GM12865	blood:	n/a	n/a
13	CTCF	chr16:82064998-82065529	H1-hESC	embryonic stem cell:	n/a	chr16:82065448-82065461
14	CTCF	chr16:82065040-82065190	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr16:82064934-82065570	MCF-7	breast:	n/a	chr16:82065448-82065461
16	CTCF	chr16:82064936-82065605	HepG2	liver:	n/a	chr16:82065448-82065461
17	CTCF	chr16:82064689-82065818	A549	lung:	n/a	chr16:82065448-82065461
18	CTCF	chr16:82065022-82065420	GM12878	blood:	n/a	n/a
19	CTCF	chr16:82065047-82065534	HepG2	liver:	n/a	chr16:82065448-82065461
20	CTCF	chr16:82065020-82065346	T-47D	breast:	n/a	n/a
21	CTCF	chr16:82065031-82065443	T-47D	breast:	n/a	n/a
22	CTCF	chr16:82065000-82065557	HCT-116	colon:	n/a	chr16:82065448-82065461
23	CTCF	chr16:82064952-82065431	MCF-7	breast:	n/a	n/a
24	CTCF	chr16:82065039-82065364	A549	lung:	n/a	n/a
25	CTCF	chr16:82064621-82065608	SK-N-SH	brain:	n/a	chr16:82065448-82065461
26	CTCF	chr16:82064876-82065706	HCT-116	colon:	n/a	chr16:82065448-82065461
27	CTCF	chr16:82065022-82065463	K562	blood:	n/a	chr16:82065448-82065461
28	FOS	chr16:82061299-82061499	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr16:82061239-82061652	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr16:82061169-82061501	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr16:82063156-82063165	HepG2	liver:	n/a	n/a
32	MYC	chr16:82065048-82065494	MCF10A-Er-Src	breast:	n/a	n/a
33	NFATC1	chr16:82062669-82062977	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:82061339-82061453	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr16:82060449-82060573	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr16:82065008-82065603	HepG2	liver:	n/a	n/a
37	RAD21	chr16:82065035-82065321	K562	blood:	n/a	n/a
38	RAD21	chr16:82064903-82065503	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr16:82065018-82065376	GM12878	blood:	n/a	n/a
40	RAD21	chr16:82064922-82065545	A549	lung:	n/a	n/a
41	RAD21	chr16:82064904-82065612	HepG2	liver:	n/a	n/a
42	RAD21	chr16:82065042-82065448	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr16:82064921-82065525	HCT-116	colon:	n/a	n/a
44	RAD21	chr16:82065038-82065418	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr16:82064916-82065533	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr16:82064942-82065583	HCT-116	colon:	n/a	n/a
47	RAD21	chr16:82065038-82065451	IMR90	lung:	n/a	n/a
48	RAD21	chr16:82065002-82065409	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr16:82064878-82065565	MCF-7	breast:	n/a	n/a
50	RAD21	chr16:82065022-82065563	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81992257..81994454-chr16:82060416..82062861,2	K562	blood:
2	chr16:82064842..82065598-chr16:82095362..82096218,4	MCF-7	breast:
3	chr16:81974148..81975083-chr16:82064743..82066000,4	MCF-7	breast:
4	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
5	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:
6	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
7	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:

Variant related genes	Relation type
HSD17B2	TF binding region
ENSG00000260682	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549285577	chr16:82060483-82060484	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570359844	chr16:82060518-82060519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534669344	chr16:82060547-82060548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553124231	chr16:82060572-82060573	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554047238	chr16:82060574-82060575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572653320	chr16:82060577-82060578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573955150	chr16:82060593-82060594	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535123362	chr16:82060621-82060622	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543277692	chr16:82060635-82060636	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554955420	chr16:82060636-82060637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576719757	chr16:82060637-82060638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187418799	chr16:82060689-82060690	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565242811	chr16:82060714-82060715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532386960	chr16:82060726-82060727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541099930	chr16:82060732-82060733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75795002	chr16:82060742-82060743	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529826540	chr16:82060753-82060754	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28583091	chr16:82060764-82060765	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4635338	chr16:82060770-82060771	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369202674	chr16:82060805-82060806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567483729	chr16:82060828-82060829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189774183	chr16:82060847-82060848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530789592	chr16:82060852-82060853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182382049	chr16:82060943-82060944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs8046900	chr16:82061015-82061016	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114126182	chr16:82061026-82061027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185586513	chr16:82061045-82061046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576541089	chr16:82061046-82061047	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569750438	chr16:82061047-82061048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142654110	chr16:82061048-82061049	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190296757	chr16:82061132-82061133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145191619	chr16:82061189-82061190	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs16956242	chr16:82061199-82061200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117716385	chr16:82061201-82061202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559010114	chr16:82061219-82061220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576806142	chr16:82061227-82061228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs16956244	chr16:82061228-82061229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541387609	chr16:82061240-82061241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561174919	chr16:82061263-82061264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183254190	chr16:82061266-82061267	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188666479	chr16:82061287-82061288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368313014	chr16:82061288-82061289	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552708833	chr16:82061300-82061301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149145482	chr16:82061328-82061329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192995296	chr16:82061331-82061332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143595375	chr16:82061332-82061333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564405674	chr16:82061338-82061339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529963808	chr16:82061360-82061361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549731503	chr16:82061361-82061362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184014833	chr16:82061368-82061369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82057200-82061000	Weak transcription	Stomach Mucosa	stomach
2	chr16:82058000-82065600	Weak transcription	Gastric	stomach
3	chr16:82058600-82062400	Enhancers	Duodenum Mucosa	Duodenum
4	chr16:82059400-82060600	Enhancers	Small Intestine	intestine
5	chr16:82059400-82062200	Enhancers	Fetal Intestine Large	intestine
6	chr16:82060000-82062000	Enhancers	Fetal Intestine Small	intestine
7	chr16:82060600-82061800	Weak transcription	Small Intestine	intestine
8	chr16:82060600-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:82060600-82062200	Enhancers	NHEK	skin
10	chr16:82060800-82061000	Enhancers	Esophagus	oesophagus
11	chr16:82060800-82061000	Enhancers	Pancreas	Pancrea
12	chr16:82060800-82061400	Enhancers	HMEC	breast
13	chr16:82060800-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82060800-82062200	Enhancers	Liver	Liver
15	chr16:82061000-82062000	Enhancers	Stomach Mucosa	stomach
16	chr16:82061000-82066600	Weak transcription	Pancreas	Pancrea
17	chr16:82061000-82066800	Weak transcription	Esophagus	oesophagus
18	chr16:82061200-82062000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:82061400-82065000	Weak transcription	HMEC	breast
20	chr16:82061800-82062000	Enhancers	Small Intestine	intestine
21	chr16:82062000-82064400	Weak transcription	Small Intestine	intestine
22	chr16:82062000-82064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:82062000-82065400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:82062000-82066400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:82062000-82066400	Weak transcription	Fetal Intestine Small	intestine
26	chr16:82062000-82066600	Weak transcription	Stomach Mucosa	stomach
27	chr16:82062200-82065000	Weak transcription	NHEK	skin
28	chr16:82062200-82065200	Weak transcription	Liver	Liver
29	chr16:82062200-82066400	Weak transcription	Fetal Intestine Large	intestine
30	chr16:82063000-82063200	Bivalent Enhancer	Fetal Brain Male	brain
31	chr16:82063800-82064000	Enhancers	Duodenum Mucosa	Duodenum
32	chr16:82064000-82065400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:82064800-82065800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr16:82064800-82065800	Enhancers	NH-A	brain
35	chr16:82064800-82066000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:82064800-82066000	Enhancers	HUVEC	blood vessel
37	chr16:82064800-82066000	Enhancers	NHDF-Ad	bronchial
38	chr16:82064800-82066200	Enhancers	HepG2	liver
39	chr16:82064800-82069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:82065000-82068200	Enhancers	NHEK	skin
41	chr16:82065000-82069400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links