Variant report

Variant	esv3393614
Chromosome Location	chr16:81173201-81175399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:81175001-81175341	K562	blood:	n/a	n/a
2	BACH1	chr16:81174746-81175382	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr16:81174969-81175313	K562	blood:	n/a	n/a
4	CEBPB	chr16:81175038-81175238	HepG2	liver:	n/a	n/a
5	CEBPB	chr16:81175032-81175221	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr16:81175179-81175253	K562	blood:	n/a	n/a
7	CHD2	chr16:81174697-81174833	HepG2	liver:	n/a	n/a
8	CREB1	chr16:81174880-81175333	A549	lung:	n/a	n/a
9	CTCF	chr16:81175180-81175330	GM12871	blood:	n/a	n/a
10	CTCF	chr16:81174959-81175354	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:81175140-81175290	HepG2	liver:	n/a	n/a
12	CTCF	chr16:81175100-81175250	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr16:81175120-81175270	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr16:81175140-81175290	HEK293	kidney:	n/a	n/a
15	CTCF	chr16:81172706-81173374	MCF-7	breast:	n/a	n/a
16	CTCF	chr16:81175108-81175332	A549	lung:	n/a	n/a
17	CTCF	chr16:81175080-81175230	AG09319	gingival:	n/a	n/a
18	CTCF	chr16:81175123-81175324	Gliobla	brain:	n/a	n/a
19	CTCF	chr16:81175140-81175290	GM12867	blood:	n/a	n/a
20	CTCF	chr16:81175120-81175270	Caco-2	colon:	n/a	n/a
21	CTCF	chr16:81175150-81175262	GM10248	blood:	n/a	n/a
22	CTCF	chr16:81174847-81175449	K562	blood:	n/a	n/a
23	CTCF	chr16:81175180-81175330	GM12865	blood:	n/a	n/a
24	CTCF	chr16:81174977-81175379	K562	blood:	n/a	n/a
25	CTCF	chr16:81175060-81175290	A549	lung:	n/a	n/a
26	CTCF	chr16:81175120-81175270	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr16:81175200-81175350	GM12864	blood:	n/a	n/a
28	CTCF	chr16:81175140-81175290	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr16:81173638-81173672	GM10248	blood:	n/a	n/a
30	CTCF	chr16:81175120-81175270	HCT-116	colon:	n/a	n/a
31	CTCF	chr16:81175071-81175338	MCF-7	breast:	n/a	n/a
32	CTCF	chr16:81175160-81175310	GM12875	blood:	n/a	n/a
33	CTCF	chr16:81175140-81175290	HPF	lung:	n/a	n/a
34	CTCF	chr16:81175100-81175250	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr16:81175240-81175390	GM12867	blood:	n/a	n/a
36	CTCF	chr16:81175075-81175348	MCF-7	breast:	n/a	n/a
37	CTCF	chr16:81173211-81173250	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr16:81175080-81175230	AG09309	skin:	n/a	n/a
39	CTCF	chr16:81175080-81175230	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr16:81175140-81175290	AG09319	gingival:	n/a	n/a
41	CTCF	chr16:81175060-81175210	NHLF	lung:	n/a	n/a
42	CTCF	chr16:81175120-81175270	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr16:81175180-81175330	GM12874	blood:	n/a	n/a
44	CTCF	chr16:81175080-81175230	HFF	foreskin:	n/a	n/a
45	CTCF	chr16:81175140-81175290	GM12872	blood:	n/a	n/a
46	CTCF	chr16:81175143-81175298	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr16:81175100-81175250	A549	lung:	n/a	n/a
48	CTCF	chr16:81175180-81175330	GM06990	blood:	n/a	n/a
49	CTCF	chr16:81175340-81175490	HCM	heart:	n/a	n/a
50	CTCF	chr16:81175120-81175270	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
2	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
3	chr16:81172499..81173473-chr16:81231950..81233302,5	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000166473	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149107944	chr16:81173206-81173207	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184124456	chr16:81173209-81173210	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542757662	chr16:81173227-81173228	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554676024	chr16:81173228-81173229	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563138230	chr16:81173232-81173233	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141992322	chr16:81173233-81173234	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200827122	chr16:81173238-81173239	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545106863	chr16:81173245-81173246	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558854298	chr16:81173246-81173247	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370489073	chr16:81173273-81173274	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375832116	chr16:81173302-81173303	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370192789	chr16:81173327-81173328	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs188624344	chr16:81173350-81173351	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572282090	chr16:81173365-81173366	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549071026	chr16:81173367-81173368	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561009420	chr16:81173374-81173375	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541195579	chr16:81173404-81173405	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146717250	chr16:81173427-81173428	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571872749	chr16:81173445-81173446	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539302077	chr16:81173453-81173454	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs16954763	chr16:81173461-81173462	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565699969	chr16:81173514-81173515	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536207347	chr16:81173540-81173541	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs62053196	chr16:81173544-81173545	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115487010	chr16:81173545-81173546	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs10717080	chr16:81173629-81173630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536877527	chr16:81173631-81173632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373046086	chr16:81173634-81173635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200715256	chr16:81173637-81173638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576928378	chr16:81173642-81173643	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs193196880	chr16:81173653-81173654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555467092	chr16:81173660-81173661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559177050	chr16:81173683-81173684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532590729	chr16:81173705-81173706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542604980	chr16:81173708-81173709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552479801	chr16:81173719-81173720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112961489	chr16:81173727-81173728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531807321	chr16:81173730-81173731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528411746	chr16:81173732-81173733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548327074	chr16:81173736-81173737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62053197	chr16:81173737-81173738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532568524	chr16:81173739-81173740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568168356	chr16:81173740-81173741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28670519	chr16:81173741-81173742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536292997	chr16:81173744-81173745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550445279	chr16:81173748-81173749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569685632	chr16:81173750-81173751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537166622	chr16:81173761-81173762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558342960	chr16:81173765-81173766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145305409	chr16:81173768-81173769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
3	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
4	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
5	chr16:81167200-81181000	Enhancers	Placenta	Placenta
6	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:81169600-81173400	Enhancers	Adipose Nuclei	Adipose
8	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
9	chr16:81170800-81174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:81171000-81176000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:81171200-81174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:81171200-81174600	Weak transcription	HMEC	breast
13	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:81171200-81206400	Weak transcription	Ovary	ovary
15	chr16:81171400-81174600	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81171400-81174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
18	chr16:81171600-81174800	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:81171600-81174800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:81172800-81173400	Enhancers	A549	lung
23	chr16:81172800-81173600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:81173000-81173400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:81173000-81173400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:81173000-81173400	Enhancers	Fetal Brain Male	brain
27	chr16:81173000-81173600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr16:81173000-81173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:81173000-81174400	Enhancers	HepG2	liver
30	chr16:81173200-81173400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:81173200-81173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr16:81173400-81173600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr16:81173400-81174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:81173400-81174600	Weak transcription	A549	lung
35	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
36	chr16:81173600-81174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:81173600-81174600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:81173600-81174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:81173600-81176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:81173600-81177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:81174000-81174400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:81174400-81175200	Flanking Active TSS	HepG2	liver
44	chr16:81174400-81175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:81174600-81175000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:81174600-81175200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:81174600-81175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:81174600-81175200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:81174600-81175200	Enhancers	Esophagus	oesophagus
50	chr16:81174600-81175400	Enhancers	Brain Substantia Nigra	brain

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