Variant report

Variant	esv1804537
Chromosome Location	chr16:12671491-12708186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:608)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12707160-12707764	K562	blood:	n/a	n/a
2	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:12682648-12682749	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:12684292-12684594	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
6	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
7	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
8	ATF1	chr16:12678409-12678811	K562	blood:	n/a	n/a
9	ATF1	chr16:12707276-12707833	K562	blood:	n/a	n/a
10	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
11	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
12	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
13	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
14	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
15	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
16	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
17	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
19	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
20	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
21	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
22	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
23	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
24	BCL3	chr16:12674715-12674922	GM12878	blood:	n/a	chr16:12674840-12674849
25	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
26	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
27	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
28	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
29	BHLHE40	chr16:12674662-12674994	GM12878	blood:	n/a	n/a
30	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
31	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
32	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
33	BHLHE40	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
34	BHLHE40	chr16:12678441-12678725	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
36	BHLHE40	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
38	BHLHE40	chr16:12706445-12706812	K562	blood:	n/a	n/a
39	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
40	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
41	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
42	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
43	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
44	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
45	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
46	CEBPB	chr16:12682550-12682754	HepG2	liver:	n/a	n/a
47	CEBPB	chr16:12681667-12681868	Hela-S3	cervix:	n/a	chr16:12681708-12681719
48	CEBPB	chr16:12678472-12678837	HepG2	liver:	n/a	n/a
49	CEBPB	chr16:12707325-12708166	HepG2	liver:	n/a	n/a
50	CEBPB	chr16:12684295-12684620	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
2	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
3	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:
4	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
5	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
6	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
7	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
8	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:
9	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-2	chr16:12704595-12704901	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region
ENSG00000259899	chromatin interactions

Extended variants
information (count: 3903 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3903 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201239256	chr16:12671493-12671494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67560236	chr16:12671494-12671495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34076346	chr16:12671495-12671496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371735336	chr16:12671499-12671500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568835214	chr16:12671503-12671504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535725100	chr16:12671507-12671508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537859834	chr16:12671518-12671519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142286774	chr16:12671529-12671530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144550087	chr16:12671546-12671547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75973087	chr16:12671551-12671552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553730227	chr16:12671563-12671564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572987111	chr16:12671567-12671568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186030397	chr16:12671575-12671576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11075100	chr16:12671579-12671580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs188885326	chr16:12671595-12671596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537208926	chr16:12671596-12671597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544291731	chr16:12671601-12671602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372142058	chr16:12671605-12671606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561619052	chr16:12671623-12671624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145448815	chr16:12671631-12671632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148836353	chr16:12671634-12671635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77589157	chr16:12671635-12671636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150391975	chr16:12671644-12671645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186251457	chr16:12671646-12671647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112428971	chr16:12671647-12671648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182388528	chr16:12671652-12671653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143492601	chr16:12671656-12671657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547916818	chr16:12671658-12671659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545911818	chr16:12671665-12671666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74913466	chr16:12671675-12671676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374356921	chr16:12671684-12671685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115819833	chr16:12671687-12671688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570285523	chr16:12671688-12671689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117290677	chr16:12671737-12671738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11644680	chr16:12671740-12671741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11649393	chr16:12671746-12671747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527987252	chr16:12671751-12671752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140649967	chr16:12671755-12671756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58148322	chr16:12671761-12671762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11644685	chr16:12671764-12671765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145814485	chr16:12671775-12671776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187409869	chr16:12671776-12671777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77560818	chr16:12671782-12671783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546427741	chr16:12671783-12671784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138441806	chr16:12671800-12671801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191221720	chr16:12671804-12671805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531352926	chr16:12671806-12671807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548146280	chr16:12671812-12671813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143040804	chr16:12671813-12671814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11640216	chr16:12671821-12671822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
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	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	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
2	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
4	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
7	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
8	chr16:12671000-12678400	Weak transcription	Gastric	stomach
9	chr16:12671200-12672000	Enhancers	Fetal Brain Male	brain
10	chr16:12671200-12677600	Weak transcription	HepG2	liver
11	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:12674400-12674600	Enhancers	Stomach Mucosa	stomach
15	chr16:12674400-12675400	Enhancers	GM12878-XiMat	blood
16	chr16:12674400-12675600	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:12674600-12674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach
19	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
20	chr16:12677600-12679800	Enhancers	HepG2	liver
21	chr16:12678000-12679000	Enhancers	K562	blood
22	chr16:12678400-12678600	Enhancers	Gastric	stomach
23	chr16:12678400-12678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:12678400-12678800	Enhancers	Brain Hippocampus Middle	brain
25	chr16:12678400-12678800	Enhancers	Brain Substantia Nigra	brain
26	chr16:12678400-12679400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:12679000-12680200	Weak transcription	Stomach Mucosa	stomach
28	chr16:12679800-12680400	Enhancers	Fetal Brain Male	brain
29	chr16:12679800-12681000	Weak transcription	HepG2	liver
30	chr16:12680200-12680400	Enhancers	Stomach Mucosa	stomach
31	chr16:12681000-12681800	Enhancers	Brain Anterior Caudate	brain
32	chr16:12681000-12686400	Enhancers	HepG2	liver
33	chr16:12683400-12683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:12683600-12685400	Enhancers	GM12878-XiMat	blood
36	chr16:12684600-12685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr16:12684600-12686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:12685000-12685600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr16:12685000-12685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr16:12685000-12686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:12685000-12686600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr16:12685200-12685600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr16:12685200-12685600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr16:12685200-12685800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr16:12685200-12685800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr16:12685200-12686000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr16:12685200-12686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:12685200-12686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr16:12685200-12686600	Enhancers	Fetal Thymus	thymus
50	chr16:12685400-12685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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