Variant report

Variant	rs567860824
Chromosome Location	chr7:112431072-112431073
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr7:112430045-112431091	GM12878	blood:	n/a	n/a
2	MTA3	chr7:112429570-112431084	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:112428826-112431111	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:112428900-112431748	GM12891	blood:	n/a	n/a
6	MAZ	chr7:112430014-112431094	GM12878	blood:	n/a	n/a
7	MAX	chr7:112429821-112431176	GM12878	blood:	n/a	n/a
8	CUX1	chr7:112430894-112431082	K562	blood:	n/a	n/a
9	SIN3AK20	chr7:112429551-112431118	MCF-7	breast:	n/a	n/a
10	RUNX3	chr7:112429715-112431092	GM12878	blood:	n/a	n/a
11	SPI1	chr7:112430273-112431108	HL-60	blood:	n/a	n/a
12	SPI1	chr7:112430540-112431271	GM12878	blood:	n/a	n/a
13	PML	chr7:112429594-112431096	GM12878	blood:	n/a	n/a
14	SPI1	chr7:112430616-112431123	GM12891	blood:	n/a	n/a
15	POLR2A	chr7:112429066-112431803	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr7:112428848-112431866	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
2	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

Variant related genes	Relation type
TMEM168	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112428600-112431200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:112429000-112431200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:112429400-112431400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112430400-112433000	Active TSS	HepG2	liver
5	chr7:112430800-112431200	Enhancers	Fetal Heart	heart
6	chr7:112430800-112431400	Weak transcription	Esophagus	oesophagus
7	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:112431000-112431200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:112431000-112431200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:112431000-112431200	Enhancers	Primary B cells from cord blood	blood
11	chr7:112431000-112431200	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:112431000-112431200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:112431000-112431200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:112431000-112431200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:112431000-112431200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:112431000-112431200	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:112431000-112431200	Enhancers	Brain Substantia Nigra	brain
18	chr7:112431000-112431200	Weak transcription	Fetal Brain Male	brain
19	chr7:112431000-112431200	Enhancers	Fetal Lung	lung
20	chr7:112431000-112431200	Enhancers	Fetal Muscle Leg	muscle
21	chr7:112431000-112431200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:112431000-112431200	Enhancers	A549	lung
23	chr7:112431000-112431200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:112431000-112431400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:112431000-112431400	Enhancers	NHEK	skin
26	chr7:112431000-112431600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:112431000-112431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:112431000-112431600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:112431000-112431600	Weak transcription	Pancreas	Pancrea
30	chr7:112431000-112431600	Enhancers	GM12878-XiMat	blood
31	chr7:112431000-112431800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:112431000-112432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:112431000-112432400	Weak transcription	K562	blood

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