Variant report

Variant	rs567506638
Chromosome Location	chr16:30545001-30545002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
2	YY1	chr16:30544983-30546673	GM12892	blood:	n/a	chr16:30546286-30546294 chr16:30546287-30546297 chr16:30546173-30546185 chr16:30546275-30546297 chr16:30546280-30546299
3	HCFC1	chr16:30544857-30547593	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:30544440-30547500	HUVEC	blood vessel:	n/a	n/a
5	YY1	chr16:30544896-30545461	HepG2	liver:	n/a	n/a
6	YY1	chr16:30544981-30545393	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:30544778-30545017	HUVEC	blood vessel:	n/a	n/a
8	RAD21	chr16:30544624-30547653	SK-N-SH	brain:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262 chr16:30547185-30547199
9	ZNF384	chr16:30544965-30545214	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
2	chr16:30074349..30076669-chr16:30543330..30545893,2	MCF-7	breast:
3	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
4	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
5	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
6	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
7	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
8	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
9	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
10	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
11	chr16:30440428..30442526-chr16:30544936..30546517,2	K562	blood:
12	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
13	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
14	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
15	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
16	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
17	chr16:30542999..30545115-chr16:30620251..30622007,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235560	TF binding region
ENSG00000229809	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000239791	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30539200-30545200	Weak transcription	HSMM	muscle
2	chr16:30539400-30545200	Weak transcription	Psoas Muscle	Psoas
3	chr16:30539400-30545200	Weak transcription	HSMMtube	muscle
4	chr16:30539600-30545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:30539600-30545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:30539600-30545200	Weak transcription	A549	lung
7	chr16:30539600-30545200	Weak transcription	NHDF-Ad	bronchial
8	chr16:30543200-30545200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:30544000-30545200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:30544000-30545200	Genic enhancers	Placenta Amnion	Placenta Amnion
11	chr16:30544200-30545200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:30544200-30545200	Weak transcription	Aorta	Aorta
13	chr16:30544400-30545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:30544400-30545200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:30544400-30545200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr16:30544400-30545200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:30544400-30545200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr16:30544400-30545200	Enhancers	Right Ventricle	heart
19	chr16:30544400-30545200	Enhancers	Stomach Mucosa	stomach
20	chr16:30544400-30545200	Enhancers	HUVEC	blood vessel
21	chr16:30544400-30545400	Enhancers	Fetal Heart	heart
22	chr16:30544400-30545600	Flanking Active TSS	Liver	Liver
23	chr16:30544400-30546200	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr16:30544600-30545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:30544600-30545200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:30544600-30545200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr16:30544600-30545200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:30544600-30545200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr16:30544600-30545200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:30544600-30545200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr16:30544600-30545200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr16:30544600-30545200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr16:30544600-30545200	Enhancers	Adipose Nuclei	Adipose
34	chr16:30544600-30545200	Enhancers	Brain Angular Gyrus	brain
35	chr16:30544600-30545200	Enhancers	Brain Germinal Matrix	brain
36	chr16:30544600-30545200	Enhancers	Brain Substantia Nigra	brain
37	chr16:30544600-30545200	Enhancers	Colon Smooth Muscle	Colon
38	chr16:30544600-30545200	Enhancers	Fetal Thymus	thymus
39	chr16:30544600-30545200	Enhancers	Left Ventricle	heart
40	chr16:30544600-30545200	Enhancers	Ovary	ovary
41	chr16:30544600-30545200	Enhancers	Right Atrium	heart
42	chr16:30544600-30545400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr16:30544600-30545600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:30544600-30545600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr16:30544600-30545800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr16:30544600-30546400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr16:30544600-30546400	Active TSS	Osteobl	bone
48	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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