Variant report

Variant	rs187975120
Chromosome Location	chr16:80838577-80838578
allele	G/T
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	POLR2A	chr16:80837917-80838734	GM19099	blood:	n/a	n/a
2	ELF1	chr16:80838400-80838923	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:80837906-80838692	ProgFib	skin:	n/a	n/a
4	POLR2A	chr16:80837961-80839275	Hela-S3	cervix:	n/a	n/a
5	TAF1	chr16:80838359-80838662	GM12878	blood:	n/a	n/a
6	CHD2	chr16:80838303-80838853	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr16:80838545-80839272	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr16:80838303-80838754	GM12878	blood:	n/a	n/a
9	YY1	chr16:80838353-80838855	GM12892	blood:	n/a	chr16:80838711-80838722
10	POLR2A	chr16:80838541-80838910	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:80837990-80838620	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:80838079-80838667	Gliobla	brain:	n/a	n/a
13	PAX5	chr16:80838358-80838820	GM12892	blood:	n/a	n/a
14	RELA	chr16:80837724-80838831	GM12891	blood:	n/a	n/a
15	POLR2A	chr16:80837674-80839442	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr16:80838048-80839047	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:80838409-80838604	IMR90	lung:	n/a	n/a
18	POLR2A	chr16:80837257-80838853	GM18505	blood:	n/a	n/a
19	EBF1	chr16:80838505-80838792	GM12878	blood:	n/a	n/a
20	RAD21	chr16:80838384-80838681	GM12878	blood:	n/a	n/a
21	TFAP2C	chr16:80838396-80839082	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr16:80838362-80838678	Hela-S3	cervix:	n/a	n/a
23	BCL3	chr16:80838415-80838640	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:80838377-80838907	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr16:80837975-80839299	Hela-S3	cervix:	n/a	n/a
26	HA-E2F1	chr16:80837679-80838941	Hela-S3	cervix:	n/a	chr16:80838261-80838271 chr16:80838263-80838272 chr16:80838773-80838782
27	POLR2A	chr16:80835765-80839771	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr16:80837938-80838873	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:80838327-80838718	U87	brain:	n/a	n/a
30	POLR2A	chr16:80838327-80838723	U87	brain:	n/a	n/a
31	RAD21	chr16:80838325-80838583	HepG2	liver:	n/a	n/a
32	SMARCB1	chr16:80836517-80839241	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr16:80838537-80838628	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:80837789-80838660	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:80837705-80839001	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr16:80837166-80838919	GM12892	blood:	n/a	n/a
37	EGR1	chr16:80838382-80838624	GM12878	blood:	n/a	n/a
38	MAX	chr16:80838032-80838916	Hela-S3	cervix:	n/a	chr16:80838861-80838871
39	POLR2A	chr16:80838326-80838805	HUVEC	blood vessel:	n/a	n/a
40	MAZ	chr16:80838141-80839093	Hela-S3	cervix:	n/a	chr16:80838861-80838871
41	NANOG	chr16:80838529-80838782	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:80837973-80839060	HUVEC	blood vessel:	n/a	n/a
43	MAZ	chr16:80837995-80838862	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80573487..80575142-chr16:80836688..80838672,2	MCF-7	breast:
2	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:
3	chr16:80838427..80840322-chr16:80885425..80887354,2	MCF-7	breast:

Variant related genes	Relation type
CDYL2	TF binding region
ENSG00000260896	Chromatin interaction
ENSG00000259867	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3376994	chr16:80836476-80839824	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3439821	chr16:80836901-80839624	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3420456	chr16:80837001-80839399	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80832400-80838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:80836600-80839000	Active TSS	HSMM	muscle
3	chr16:80836800-80838600	Active TSS	Primary hematopoietic stem cells	blood
4	chr16:80836800-80838600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr16:80836800-80838800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:80836800-80838800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:80836800-80838800	Active TSS	NH-A	brain
8	chr16:80836800-80838800	Active TSS	NHEK	skin
9	chr16:80836800-80839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:80836800-80839000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
11	chr16:80837000-80838600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:80837000-80838600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:80837000-80838600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:80837000-80838600	Active TSS	Right Ventricle	heart
15	chr16:80837000-80838800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:80837000-80838800	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr16:80837000-80838800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr16:80837000-80838800	Active TSS	Duodenum Mucosa	Duodenum
19	chr16:80837000-80839000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr16:80837000-80839000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:80837000-80839000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:80837000-80839000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:80837000-80839000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:80837000-80839000	Active TSS	Brain Anterior Caudate	brain
25	chr16:80837000-80839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:80837000-80839200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr16:80837000-80839200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:80837000-80839200	Active TSS	Rectal Smooth Muscle	rectum
29	chr16:80837000-80839200	Active TSS	Osteobl	bone
30	chr16:80837200-80838600	Active TSS	Lung	lung
31	chr16:80837200-80838800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr16:80837200-80838800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr16:80837200-80838800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr16:80837200-80838800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:80837200-80838800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:80837200-80838800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:80837200-80838800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:80837200-80838800	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr16:80837200-80838800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:80837200-80838800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr16:80837200-80838800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:80837200-80838800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:80837200-80838800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:80837200-80838800	Active TSS	Fetal Intestine Large	intestine
45	chr16:80837200-80838800	Active TSS	Fetal Intestine Small	intestine
46	chr16:80837200-80838800	Active TSS	Placenta	Placenta
47	chr16:80837200-80838800	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr16:80837200-80838800	Active TSS	Gastric	stomach
49	chr16:80837200-80838800	Active TSS	Right Atrium	heart
50	chr16:80837200-80838800	Active TSS	Skeletal Muscle Female	skeletal muscle

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