Variant report

Variant	esv2761928
Chromosome Location	chr16:82784440-82806653
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	CEBPB	chr16:82793367-82793845	IMR90	lung:	n/a	chr16:82793383-82793394 chr16:82793699-82793710
2	CEBPB	chr16:82806159-82806390	HepG2	liver:	n/a	chr16:82806277-82806288
3	CEBPB	chr16:82794930-82795257	Hela-S3	cervix:	n/a	chr16:82795159-82795172
4	CEBPB	chr16:82794905-82795256	A549	lung:	n/a	chr16:82795159-82795172
5	CEBPB	chr16:82793698-82793750	K562	blood:	n/a	chr16:82793699-82793710
6	CEBPB	chr16:82793574-82793858	HepG2	liver:	n/a	chr16:82793699-82793710
7	CEBPB	chr16:82806146-82806407	IMR90	lung:	n/a	chr16:82806277-82806288
8	CEBPB	chr16:82794786-82795354	IMR90	lung:	n/a	chr16:82795159-82795172
9	CEBPB	chr16:82795055-82795275	H1-hESC	embryonic stem cell:	n/a	chr16:82795159-82795172
10	CTCF	chr16:82789280-82789430	HA-sp	spinal cord:	n/a	chr16:82789374-82789381
11	CTCF	chr16:82794380-82794530	GM12875	blood:	n/a	n/a
12	CTCF	chr16:82789320-82789470	HPF	lung:	n/a	chr16:82789374-82789381
13	CTCF	chr16:82789260-82789410	HEK293	kidney:	n/a	chr16:82789374-82789381
14	CTCF	chr16:82789320-82789470	HVMF	connective:	n/a	chr16:82789374-82789381
15	CTCF	chr16:82789280-82789430	HMF	breast:	n/a	chr16:82789374-82789381
16	CTCF	chr16:82789339-82789423	ProgFib	skin:	n/a	chr16:82789374-82789381
17	CTCF	chr16:82789300-82789450	HCPEpiC	choroid plexus:	n/a	chr16:82789374-82789381
18	CTCF	chr16:82789360-82789510	HFF-Myc	foreskin:	n/a	chr16:82789374-82789381
19	CTCF	chr16:82789200-82789350	AG04450	lung:	n/a	n/a
20	CTCF	chr16:82789360-82789510	NHEK	skin:	n/a	chr16:82789374-82789381
21	CTCF	chr16:82789300-82789450	AG04449	skin:	n/a	chr16:82789374-82789381
22	CTCF	chr16:82789280-82789430	BJ	skin:	n/a	chr16:82789374-82789381
23	CTCF	chr16:82789300-82789450	GM12872	blood:	n/a	chr16:82789374-82789381
24	CTCF	chr16:82789200-82789350	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr16:82789260-82789410	HepG2	liver:	n/a	chr16:82789374-82789381
26	CTCF	chr16:82789296-82789434	HepG2	liver:	n/a	chr16:82789374-82789381
27	CTCF	chr16:82789400-82789550	HCM	heart:	n/a	n/a
28	CTCF	chr16:82789284-82789512	HepG2	liver:	n/a	chr16:82789374-82789381
29	CTCF	chr16:82789320-82789470	HBMEC	blood vessel:	n/a	chr16:82789374-82789381
30	CTCF	chr16:82789340-82789490	K562	blood:	n/a	chr16:82789374-82789381
31	CTCF	chr16:82789320-82789470	HAc	cerebellar:	n/a	chr16:82789374-82789381
32	CTCF	chr16:82789240-82789506	H1-hESC	embryonic stem cell:	n/a	chr16:82789374-82789381
33	CTCF	chr16:82789300-82789450	AoAF	blood vessel:	n/a	chr16:82789374-82789381
34	CTCF	chr16:82789120-82789270	HAc	cerebellar:	n/a	n/a
35	CTCF	chr16:82789340-82789490	Caco-2	colon:	n/a	chr16:82789374-82789381
36	CTCF	chr16:82789220-82789370	GM12869	blood:	n/a	n/a
37	CTCF	chr16:82789209-82789509	GM12878	blood:	n/a	chr16:82789374-82789381
38	CTCF	chr16:82789316-82789427	K562	blood:	n/a	chr16:82789374-82789381
39	CTCF	chr16:82789320-82789470	AG10803	skin:	n/a	chr16:82789374-82789381
40	CTCF	chr16:82789380-82789530	RPTEC	kidney:	n/a	n/a
41	CTCF	chr16:82789300-82789450	HRPEpiC	eye:	n/a	chr16:82789374-82789381
42	CTCF	chr16:82789260-82789410	SK-N-SH_RA	brain:	n/a	chr16:82789374-82789381
43	CTCF	chr16:82789280-82789430	HPAF	blood vessel:	n/a	chr16:82789374-82789381
44	CTCF	chr16:82789160-82789310	HFF	foreskin:	n/a	n/a
45	CTCF	chr16:82789284-82789456	Gliobla	brain:	n/a	chr16:82789374-82789381
46	CTCF	chr16:82789360-82789510	RPTEC	kidney:	n/a	chr16:82789374-82789381
47	CTCF	chr16:82789300-82789450	HBMEC	blood vessel:	n/a	chr16:82789374-82789381
48	CTCF	chr16:82789260-82789410	GM06990	blood:	n/a	chr16:82789374-82789381
49	CTCF	chr16:82789284-82789446	MCF-7	breast:	n/a	chr16:82789374-82789381
50	CTCF	chr16:82788779-82788904	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:
2	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:
3	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:

Variant related genes	Relation type
ENSG00000260862	TF binding region

Extended variants
information (count: 1223 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41345948	chr16:82784440-82784441	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567422728	chr16:82784458-82784459	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149441761	chr16:82784459-82784460	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554800879	chr16:82784486-82784487	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556261496	chr16:82784491-82784492	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577750692	chr16:82784510-82784511	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79640861	chr16:82784528-82784529	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558473032	chr16:82784598-82784599	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78205508	chr16:82784605-82784606	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140112278	chr16:82784617-82784618	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566577596	chr16:82784625-82784626	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374767761	chr16:82784646-82784647	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145536542	chr16:82784647-82784648	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74030819	chr16:82784648-82784649	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544315436	chr16:82784671-82784672	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67227308	chr16:82784677-82784678	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1350889	chr16:82784687-82784688	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74943884	chr16:82784690-82784691	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192599223	chr16:82784695-82784696	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142272932	chr16:82784697-82784698	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151238206	chr16:82784719-82784720	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567486504	chr16:82784814-82784815	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7206687	chr16:82784825-82784826	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549933070	chr16:82784839-82784840	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140442778	chr16:82784919-82784920	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74337496	chr16:82784922-82784923	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553496133	chr16:82784924-82784925	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149758369	chr16:82784934-82784935	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1350888	chr16:82784943-82784944	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555604780	chr16:82784994-82784995	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573929289	chr16:82785062-82785063	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115385081	chr16:82785077-82785078	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556279350	chr16:82785078-82785079	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114022103	chr16:82785089-82785090	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145607509	chr16:82785090-82785091	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560309250	chr16:82785094-82785095	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115143555	chr16:82785102-82785103	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541951181	chr16:82785106-82785107	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74827422	chr16:82785111-82785112	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16958504	chr16:82785119-82785120	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527897313	chr16:82785122-82785123	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549989630	chr16:82785125-82785126	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571424183	chr16:82785131-82785132	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532108970	chr16:82785135-82785136	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140359776	chr16:82785156-82785157	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546446855	chr16:82785170-82785171	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564625511	chr16:82785172-82785173	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536228395	chr16:82785194-82785195	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145415668	chr16:82785224-82785225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184939218	chr16:82785248-82785249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82774600-82787400	Weak transcription	NHEK	skin
6	chr16:82781600-82789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:82781800-82785400	Enhancers	HUVEC	blood vessel
8	chr16:82781800-82788400	Weak transcription	Fetal Heart	heart
9	chr16:82781800-82788600	Weak transcription	Right Atrium	heart
10	chr16:82781800-82788800	Weak transcription	Aorta	Aorta
11	chr16:82782000-82787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82782000-82790000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:82782200-82786200	Weak transcription	NH-A	brain
14	chr16:82782200-82787200	Weak transcription	NHDF-Ad	bronchial
15	chr16:82782200-82787200	Weak transcription	Osteobl	bone
16	chr16:82782200-82787600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:82782200-82788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:82782200-82790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:82782400-82787000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:82782400-82789200	Weak transcription	HSMMtube	muscle
21	chr16:82782600-82790200	Weak transcription	Adipose Nuclei	Adipose
22	chr16:82783400-82784800	Enhancers	Primary B cells from peripheral blood	blood
23	chr16:82783800-82785000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:82783800-82788600	Weak transcription	Psoas Muscle	Psoas
25	chr16:82784200-82786000	Strong transcription	HSMM	muscle
26	chr16:82784400-82785000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:82784800-82785200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr16:82784800-82785200	Enhancers	Lung	lung
29	chr16:82784800-82786400	Enhancers	Left Ventricle	heart
30	chr16:82784800-82786800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:82784800-82789400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:82785000-82788800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:82785200-82786400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:82785200-82787000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:82785200-82794200	Weak transcription	Lung	lung
36	chr16:82785400-82785800	Weak transcription	HUVEC	blood vessel
37	chr16:82785400-82786400	Weak transcription	Right Ventricle	heart
38	chr16:82785800-82786600	Enhancers	HUVEC	blood vessel
39	chr16:82786000-82787200	Weak transcription	HSMM	muscle
40	chr16:82786200-82786400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:82786200-82786400	Enhancers	NH-A	brain
42	chr16:82786400-82786800	Weak transcription	NH-A	brain
43	chr16:82786400-82787200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:82786400-82788600	Weak transcription	Left Ventricle	heart
45	chr16:82786600-82787400	Weak transcription	HUVEC	blood vessel
46	chr16:82786800-82790800	Enhancers	NH-A	brain
47	chr16:82786800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:82787000-82788000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:82787000-82790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:82787200-82787800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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