Variant report

Variant	esv3436709
Chromosome Location	chr16:81171951-81176149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

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	chr16:81172505-81172638	K562	blood:	n/a	n/a
5	CEBPB	chr16:81175038-81175238	HepG2	liver:	n/a	n/a
6	CEBPB	chr16:81175032-81175221	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr16:81175179-81175253	K562	blood:	n/a	n/a
8	CHD2	chr16:81174697-81174833	HepG2	liver:	n/a	n/a
9	CREB1	chr16:81174880-81175333	A549	lung:	n/a	n/a
10	CTCF	chr16:81175120-81175270	GM12866	blood:	n/a	n/a
11	CTCF	chr16:81174709-81175516	MCF-7	breast:	n/a	n/a
12	CTCF	chr16:81175100-81175250	GM12868	blood:	n/a	n/a
13	CTCF	chr16:81175160-81175310	AG04449	skin:	n/a	n/a
14	CTCF	chr16:81175080-81175230	RPTEC	kidney:	n/a	n/a
15	CTCF	chr16:81172763-81173214	MCF-7	breast:	n/a	n/a
16	CTCF	chr16:81175080-81175230	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr16:81172880-81173030	Caco-2	colon:	n/a	n/a
18	CTCF	chr16:81175065-81175364	K562	blood:	n/a	n/a
19	CTCF	chr16:81174977-81175379	K562	blood:	n/a	n/a
20	CTCF	chr16:81172954-81173011	HepG2	liver:	n/a	n/a
21	CTCF	chr16:81174953-81175373	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr16:81175046-81175359	GM12878	blood:	n/a	n/a
23	CTCF	chr16:81175120-81175270	RPTEC	kidney:	n/a	n/a
24	CTCF	chr16:81175120-81175270	GM12873	blood:	n/a	n/a
25	CTCF	chr16:81175143-81175298	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr16:81175120-81175270	K562	blood:	n/a	n/a
27	CTCF	chr16:81175120-81175270	HEK293	kidney:	n/a	n/a
28	CTCF	chr16:81172880-81173030	MCF-7	breast:	n/a	n/a
29	CTCF	chr16:81172662-81173271	HCT-116	colon:	n/a	n/a
30	CTCF	chr16:81175100-81175250	NB4	blood:	n/a	n/a
31	CTCF	chr16:81175120-81175270	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr16:81175120-81175270	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr16:81175120-81175270	GM12878	blood:	n/a	n/a
34	CTCF	chr16:81175200-81175350	HRE	kidney:	n/a	n/a
35	CTCF	chr16:81175120-81175270	GM12869	blood:	n/a	n/a
36	CTCF	chr16:81175180-81175330	GM12865	blood:	n/a	n/a
37	CTCF	chr16:81175122-81175322	GM12892	blood:	n/a	n/a
38	CTCF	chr16:81175132-81175301	GM19240	blood:	n/a	n/a
39	CTCF	chr16:81175140-81175290	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr16:81175120-81175270	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr16:81175200-81175350	GM12864	blood:	n/a	n/a
42	CTCF	chr16:81175075-81175348	MCF-7	breast:	n/a	n/a
43	CTCF	chr16:81175100-81175250	GM12870	blood:	n/a	n/a
44	CTCF	chr16:81175120-81175270	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr16:81175160-81175310	K562	blood:	n/a	n/a
46	CTCF	chr16:81175140-81175290	HEK293	kidney:	n/a	n/a
47	CTCF	chr16:81175160-81175310	GM12875	blood:	n/a	n/a
48	CTCF	chr16:81175340-81175490	HCM	heart:	n/a	n/a
49	CTCF	chr16:81175071-81175338	MCF-7	breast:	n/a	n/a
50	CTCF	chr16:81175180-81175330	GM12874	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
2	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
3	chr16:81172499..81173473-chr16:81231950..81233302,5	MCF-7	breast:
4	chr16:81170203..81172478-chr16:81173151..81175133,2	MCF-7	breast:
5	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
6	chr16:81168888..81171592-chr16:81175504..81177098,2	MCF-7	breast:
7	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000140905	chromatin interactions
ENSG00000166473	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181024952	chr16:81171970-81171971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551284313	chr16:81171979-81171980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566787792	chr16:81171986-81171987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370964043	chr16:81171994-81171995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374271233	chr16:81172022-81172023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368951475	chr16:81172043-81172044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535804869	chr16:81172052-81172053	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557497851	chr16:81172057-81172058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573926503	chr16:81172074-81172075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575637370	chr16:81172088-81172089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540070243	chr16:81172187-81172188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147505621	chr16:81172228-81172229	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372250860	chr16:81172229-81172230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183561893	chr16:81172237-81172238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371246887	chr16:81172267-81172268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190525313	chr16:81172268-81172269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182455765	chr16:81172295-81172296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562651383	chr16:81172312-81172313	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374954285	chr16:81172313-81172314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs77931341	chr16:81172316-81172317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11648052	chr16:81172338-81172339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115377528	chr16:81172367-81172368	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140110028	chr16:81172382-81172383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9928804	chr16:81172383-81172384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187083888	chr16:81172400-81172401	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191882693	chr16:81172419-81172420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11648413	chr16:81172431-81172432	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181463929	chr16:81172432-81172433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185858395	chr16:81172439-81172440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558196381	chr16:81172455-81172456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573379540	chr16:81172469-81172470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534078908	chr16:81172481-81172482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs66484113	chr16:81172484-81172485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34131653	chr16:81172506-81172507	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs555680436	chr16:81172509-81172510	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs115718102	chr16:81172549-81172550	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368045459	chr16:81172550-81172551	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs544601084	chr16:81172557-81172558	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs190231463	chr16:81172591-81172592	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376311577	chr16:81172609-81172610	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs182384817	chr16:81172620-81172621	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs12599723	chr16:81172637-81172638	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs41422949	chr16:81172662-81172663	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147275586	chr16:81172676-81172677	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs9931241	chr16:81172683-81172684	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs16954759	chr16:81172687-81172688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140859558	chr16:81172704-81172705	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs74797577	chr16:81172708-81172709	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs551587585	chr16:81172731-81172732	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs116455334	chr16:81172787-81172788	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
4	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
5	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
6	chr16:81167200-81181000	Enhancers	Placenta	Placenta
7	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:81169600-81173400	Enhancers	Adipose Nuclei	Adipose
9	chr16:81170000-81173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
11	chr16:81170800-81174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:81171000-81173000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:81171000-81173200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:81171000-81176000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:81171200-81172800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:81171200-81173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:81171200-81173000	Weak transcription	HepG2	liver
18	chr16:81171200-81174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:81171200-81174600	Weak transcription	HMEC	breast
20	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:81171200-81206400	Weak transcription	Ovary	ovary
22	chr16:81171400-81172800	Weak transcription	A549	lung
23	chr16:81171400-81174600	Weak transcription	Brain Substantia Nigra	brain
24	chr16:81171400-81174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
26	chr16:81171600-81174800	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:81171600-81174800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:81171800-81173000	Weak transcription	Fetal Brain Male	brain
31	chr16:81172600-81172800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:81172800-81173400	Enhancers	A549	lung
33	chr16:81172800-81173600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:81173000-81173400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:81173000-81173400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:81173000-81173400	Enhancers	Fetal Brain Male	brain
37	chr16:81173000-81173600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr16:81173000-81173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:81173000-81174400	Enhancers	HepG2	liver
40	chr16:81173200-81173400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr16:81173200-81173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:81173400-81173600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr16:81173400-81174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:81173400-81174600	Weak transcription	A549	lung
45	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
46	chr16:81173600-81174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:81173600-81174600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr16:81173600-81174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:81173600-81176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:81173600-81177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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