Variant report

Variant	rs552230920
Chromosome Location	chr16:30547900-30547901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30545070-30548080	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:30545065-30548041	GM12892	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
2	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
3	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
4	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
5	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
6	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
7	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
8	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
9	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
10	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
11	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
12	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
13	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
14	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
15	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
16	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
17	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
18	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
19	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
20	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
21	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAL-2	chr16:30547750-30548465	ENSG00000235560
2	lnc-ITGAL-2	chr16:30547750-30548465	ENSG00000235560.3

No data

Variant related genes	Relation type
ZNF747	TF binding region
ENSG00000261459	TF binding region
ENSG00000080603	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000169592	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
6	nsv977958	chr16:30547064-30550984	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30547200-30548000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:30547200-30548000	Flanking Active TSS	GM12878-XiMat	blood
3	chr16:30547400-30548000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr16:30547400-30548200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:30547400-30548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:30547400-30548200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:30547400-30550600	Weak transcription	Right Ventricle	heart
8	chr16:30547400-30552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:30547400-30552600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:30547400-30552600	Weak transcription	NH-A	brain
11	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
13	chr16:30547600-30548000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:30547600-30548000	Enhancers	Primary B cells from cord blood	blood
15	chr16:30547600-30548000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:30547600-30548000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr16:30547600-30548000	Enhancers	Fetal Intestine Large	intestine
18	chr16:30547600-30548000	Enhancers	Fetal Muscle Leg	muscle
19	chr16:30547600-30548000	Enhancers	Fetal Stomach	stomach
20	chr16:30547600-30548000	Enhancers	A549	lung
21	chr16:30547600-30548000	Enhancers	Osteobl	bone
22	chr16:30547600-30548200	Enhancers	Primary hematopoietic stem cells	blood
23	chr16:30547600-30548200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr16:30547600-30548200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:30547600-30548200	Enhancers	Fetal Intestine Small	intestine
26	chr16:30547600-30548200	Enhancers	Stomach Mucosa	stomach
27	chr16:30547600-30548400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:30547600-30548400	Enhancers	Fetal Thymus	thymus
29	chr16:30547600-30548600	Enhancers	Primary B cells from peripheral blood	blood
30	chr16:30547600-30548600	Enhancers	Thymus	Thymus
31	chr16:30547600-30550200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:30547600-30550400	Weak transcription	Left Ventricle	heart
33	chr16:30547600-30550600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:30547600-30550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:30547600-30550600	Weak transcription	Gastric	stomach
36	chr16:30547600-30550600	Weak transcription	Pancreas	Pancrea
37	chr16:30547600-30550600	Weak transcription	Right Atrium	heart
38	chr16:30547600-30550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:30547600-30550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:30547600-30551000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:30547600-30551800	Weak transcription	Brain Germinal Matrix	brain
42	chr16:30547600-30552200	Weak transcription	Brain Substantia Nigra	brain
43	chr16:30547600-30552400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:30547600-30552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:30547600-30552400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:30547600-30552400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:30547600-30552400	Weak transcription	Colonic Mucosa	Colon
48	chr16:30547600-30552400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:30547600-30552400	Weak transcription	HUVEC	blood vessel
50	chr16:30547600-30552600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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