Variant report

Variant	nsv974757
Chromosome Location	chr16:12071576-12072076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:12071306-12071594	K562	blood:	n/a	n/a
2	CHD1	chr16:12071137-12071807	GM12878	blood:	n/a	n/a
3	CTCF	chr16:12072060-12072210	GM12865	blood:	n/a	n/a
4	CTCF	chr16:12072020-12072170	GM12872	blood:	n/a	n/a
5	CTCF	chr16:12072040-12072190	GM12874	blood:	n/a	n/a
6	CTCF	chr16:12072060-12072210	HVMF	connective:	n/a	n/a
7	CTCF	chr16:12072040-12072190	GM12867	blood:	n/a	n/a
8	CTCF	chr16:12071640-12071790	AG10803	skin:	n/a	n/a
9	ELK1	chr16:12071980-12072225	GM12878	blood:	n/a	n/a
10	FOS	chr16:12071534-12071845	MCF10A-Er-Src	breast:	n/a	chr16:12071672-12071682 chr16:12071673-12071681
11	FOS	chr16:12071527-12071823	MCF10A-Er-Src	breast:	n/a	chr16:12071672-12071682 chr16:12071673-12071681
12	FOS	chr16:12071531-12071859	MCF10A-Er-Src	breast:	n/a	chr16:12071672-12071682 chr16:12071673-12071681
13	FOS	chr16:12071517-12071859	MCF10A-Er-Src	breast:	n/a	chr16:12071672-12071682 chr16:12071673-12071681
14	GTF2F1	chr16:12071330-12071762	Hela-S3	cervix:	n/a	n/a
15	IKZF1	chr16:12071241-12071666	GM12878	blood:	n/a	n/a
16	JUND	chr16:12071386-12071843	K562	blood:	n/a	chr16:12071672-12071682 chr16:12071673-12071681
17	MAFF	chr16:12071278-12071780	K562	blood:	n/a	n/a
18	MAFK	chr16:12071349-12071824	K562	blood:	n/a	n/a
19	MAZ	chr16:12069635-12072270	IMR90	lung:	n/a	chr16:12070760-12070770
20	MAZ	chr16:12071275-12071749	K562	blood:	n/a	n/a
21	MTA3	chr16:12071683-12072512	GM12878	blood:	n/a	n/a
22	MTA3	chr16:12072043-12072490	GM12878	blood:	n/a	n/a
23	MXI1	chr16:12069562-12072323	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr16:12071160-12071628	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr16:12071413-12072003	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr16:12071483-12071607	K562	blood:	n/a	n/a
27	POLR2A	chr16:12072033-12072076	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr16:12071467-12071809	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr16:12069293-12072542	GM12891	blood:	n/a	n/a
30	POLR2A	chr16:12071631-12071831	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:12071225-12071969	U87	brain:	n/a	n/a
32	POLR2A	chr16:12071238-12071750	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:12069698-12071959	IMR90	lung:	n/a	n/a
34	POLR2A	chr16:12071407-12071715	ProgFib	skin:	n/a	n/a
35	POLR2A	chr16:12071954-12072527	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:12069350-12071988	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:12069916-12071737	Raji	blood:	n/a	n/a
38	POLR2A	chr16:12071378-12071977	U87	brain:	n/a	n/a
39	POLR2A	chr16:12069610-12071849	GM18505	blood:	n/a	n/a
40	POLR2A	chr16:12072044-12072470	GM12891	blood:	n/a	n/a
41	POLR2A	chr16:12069746-12071941	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr16:12071340-12071653	Gliobla	brain:	n/a	n/a
43	POLR2A	chr16:12069510-12071691	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr16:12071569-12071815	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr16:12071442-12071858	IMR90	lung:	n/a	n/a
46	RCOR1	chr16:12069610-12071817	K562	blood:	n/a	n/a
47	RCOR1	chr16:12071121-12071670	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr16:12071497-12071703	Hela-S3	cervix:	n/a	n/a
49	TBL1XR1	chr16:12071822-12072529	GM12878	blood:	n/a	n/a
50	UBTF	chr16:12070168-12071715	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12071814-12071864	HAEpiC	amniotic membrane:	n/a
2	chr16:12071814-12071864	GM12891	blood:	n/a
3	chr16:12071814-12071864	SK-N-SH_RA	brain:	n/a
4	chr16:12071814-12071864	T-47D	breast:	n/a
5	chr16:12071814-12071864	CMK	blood:	n/a
6	chr16:12071814-12071864	Caco-2	colon:	n/a
7	chr16:12071814-12071864	HRPEpiC	eye:	n/a
8	chr16:12071814-12071864	RPTEC	kidney:	n/a
9	chr16:12071814-12071864	PFSK-1	brain:	n/a
10	chr16:12071814-12071864	U87	brain:	n/a
11	chr16:12071814-12071864	K562	blood:	n/a
12	chr16:12071814-12071864	ProgFib	skin:	n/a
13	chr16:12071814-12071864	HUVEC	blood vessel:	n/a
14	chr16:12071814-12071864	ECC-1	luminal epithelium:	n/a
15	chr16:12071814-12071864	SKMC	muscle:	n/a
16	chr16:12071814-12071864	AG09309	skin:	n/a
17	chr16:12071814-12071864	SK-N-SH	brain:	n/a
18	chr16:12071814-12071864	GM19239	blood:	n/a
19	chr16:12071814-12071864	Hela-S3	cervix:	n/a
20	chr16:12071814-12071864	HEEpiC	esophagus:	n/a
21	chr16:12071814-12071864	H1-hESC	embryonic stem cell:	embryo
22	chr16:12071814-12071864	GM06990	blood:	n/a
23	chr16:12071814-12071864	HCM	heart:	n/a
24	chr16:12071814-12071864	SK-N-MC	brain:	n/a
25	chr16:12071814-12071864	NHBE	bronchial:	n/a
26	chr16:12071814-12071864	HMEC	breast:	n/a
27	chr16:12071814-12071864	HRCEpiC	kidney:	n/a
28	chr16:12071814-12071864	HepG2	liver:	n/a
29	chr16:12071814-12071864	BJ	skin:	n/a
30	chr16:12071814-12071864	LNCaP	prostate:	n/a
31	chr16:12071814-12071864	MCF10A-Er-Src	breast:	n/a
32	chr16:12071814-12071864	MCF-7	breast:	n/a
33	chr16:12071814-12071864	PrEC	prostate:	n/a
34	chr16:12071814-12071864	NT2-D1	testis:	n/a
35	chr16:12071814-12071864	ovcar-3	ovarian:	n/a
36	chr16:12071814-12071864	AoSMC	blood vessel:	n/a
37	chr16:12071814-12071864	HRE	kidney:	n/a
38	chr16:12071814-12071864	HIPEpiC	eye:	n/a
39	chr16:12071814-12071864	Hepatocyte	liver:	n/a
40	chr16:12071814-12071864	HCF	heart:	n/a
41	chr16:12071814-12071864	IMR90	lung:	fetal
42	chr16:12071814-12071864	PANC-1	pancreas:	n/a
43	chr16:12071814-12071864	Jurkat	blood:	n/a
44	chr16:12071814-12071864	AG04449	skin:	fetal
45	chr16:12071814-12071864	AG09319	gingival:	n/a
46	chr16:12071814-12071864	NB4	blood:	n/a
47	chr16:12071814-12071864	GM12892	blood:	n/a
48	chr16:12071814-12071864	A549	lung:	n/a
49	chr16:12071814-12071864	HEK293	kidney:	embryo
50	chr16:12071814-12071864	BE2_C	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
2	chr16:12070324..12072776-chr16:12897424..12899893,2	K562	blood:
3	chr16:12069629..12072468-chr16:12173207..12175470,2	MCF-7	breast:
4	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
5	chr16:12058363..12061770-chr16:12069205..12072370,4	MCF-7	breast:
6	chr16:12068621..12072204-chr16:12129850..12134239,5	MCF-7	breast:
7	chr16:12071974..12074044-chr16:12076209..12078195,2	K562	blood:
8	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-166B2.1.1-1	chr16:12071293-12071707	ENSG00000260488.1

No data

Variant related genes	Relation type
ENSG00000260488	TF binding region
ENSG00000234719	TF binding region
ENSG00000260488	CpG island
ENSG00000234719	CpG island
ENSG00000241641	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000103342	chromatin interactions
ENSG00000266163	chromatin interactions
ENSG00000048462	chromatin interactions
ENSG00000103381	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183402329	chr16:12071582-12071583	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs28376319	chr16:12071593-12071594	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554150806	chr16:12071602-12071603	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs577649963	chr16:12071625-12071626	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs545785215	chr16:12071637-12071638	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs562469156	chr16:12071730-12071731	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs576164517	chr16:12071797-12071798	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs141024322	chr16:12071814-12071815	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs561866168	chr16:12071821-12071822	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs527471692	chr16:12071827-12071828	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs554325131	chr16:12071836-12071837	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs574156341	chr16:12071837-12071838	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs377674186	chr16:12071892-12071893	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs559989351	chr16:12071901-12071902	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs564191313	chr16:12071904-12071905	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533079785	chr16:12071910-12071911	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs141827577	chr16:12071929-12071930	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs552106512	chr16:12071933-12071934	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs568920976	chr16:12071979-12071980	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs144898223	chr16:12072017-12072018	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs548392378	chr16:12072030-12072031	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs568570455	chr16:12072064-12072065	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs371732456	chr16:12072069-12072070	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs576850660	chr16:12072070-12072071	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12069400-12071600	Active TSS	A549	lung
2	chr16:12069400-12072000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:12069400-12072200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:12069600-12071600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:12069600-12071600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:12069600-12071800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:12069600-12071800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:12069600-12072000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:12069600-12072600	Active TSS	Fetal Kidney	kidney
10	chr16:12069800-12071600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:12069800-12071800	Active TSS	Right Atrium	heart
12	chr16:12069800-12072000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:12070000-12071600	Active TSS	Aorta	Aorta
14	chr16:12070000-12071600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:12070000-12071600	Active TSS	Fetal Intestine Small	intestine
16	chr16:12070000-12071800	Active TSS	HSMMtube	muscle
17	chr16:12070000-12071800	Active TSS	NHDF-Ad	bronchial
18	chr16:12070000-12072000	Active TSS	Ovary	ovary
19	chr16:12070000-12072400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:12070200-12071800	Active TSS	NHLF	lung
21	chr16:12070200-12072000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:12070200-12072200	Active TSS	GM12878-XiMat	blood
23	chr16:12070200-12072400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:12070400-12072200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:12070800-12071600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr16:12070800-12071600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr16:12070800-12071600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr16:12070800-12071600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr16:12070800-12071600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:12070800-12071600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr16:12070800-12071800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:12070800-12071800	Flanking Active TSS	Colonic Mucosa	Colon
33	chr16:12070800-12071800	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr16:12070800-12072200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:12070800-12072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr16:12070800-12072600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr16:12071000-12071600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:12071000-12071600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:12071000-12071600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:12071000-12071600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr16:12071000-12071600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:12071000-12071600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr16:12071000-12071600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr16:12071000-12071600	Flanking Active TSS	Liver	Liver
45	chr16:12071000-12071600	Flanking Active TSS	Placenta	Placenta
46	chr16:12071000-12071600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr16:12071000-12071800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr16:12071000-12071800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:12071000-12071800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr16:12071000-12071800	Flanking Active TSS	Fetal Muscle Leg	muscle

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