Variant report

Variant	rs145823192
Chromosome Location	chr7:56031656-56031657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:56031630-56032856	GM12878	blood:	n/a	chr7:56032448-56032458
2	CTBP2	chr7:56031539-56032974	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:56030970-56033262	SK-N-SH	brain:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
4	CTCF	chr7:56031580-56031730	GM12872	blood:	n/a	n/a
5	POLR2A	chr7:56030993-56033296	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr7:56030976-56033304	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr7:56031641-56033325	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:56031626-56031688	K562	blood:	n/a	n/a
9	POLR2A	chr7:56031537-56033095	HepG2	liver:	n/a	n/a
10	MXI1	chr7:56031503-56033348	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
2	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
3	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
4	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
5	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
6	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
7	chr7:56031002..56032516-chr7:56130202..56131906,2	K562	blood:
8	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
9	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:

No data

Variant related genes	Relation type
GBAS	TF binding region
ENSG00000146729	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000239789	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers 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	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv1926518	chr7:56031237-56031694	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv3415140	chr7:56031258-56033556	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:56020400-56031800	Weak transcription	HSMMtube	muscle
3	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
4	chr7:56020600-56031800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:56022200-56031800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:56023800-56031800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:56024200-56031800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:56024400-56031800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:56024800-56031800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:56025400-56032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:56025600-56031800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:56030800-56032200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:56031200-56032000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:56031200-56032200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:56031200-56032200	Flanking Active TSS	Dnd41	blood
16	chr7:56031400-56031800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:56031400-56031800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:56031400-56031800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:56031400-56031800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:56031400-56031800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:56031400-56031800	Enhancers	Placenta	Placenta
22	chr7:56031400-56031800	Enhancers	Pancreas	Pancrea
23	chr7:56031400-56031800	Enhancers	Right Ventricle	heart
24	chr7:56031400-56031800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:56031400-56031800	Enhancers	Thymus	Thymus
26	chr7:56031400-56031800	Flanking Active TSS	Hela-S3	cervix
27	chr7:56031400-56032000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:56031400-56032000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:56031400-56032000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:56031400-56032000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr7:56031400-56032000	Enhancers	Fetal Brain Male	brain
32	chr7:56031400-56032000	Enhancers	Fetal Heart	heart
33	chr7:56031400-56032000	Enhancers	Small Intestine	intestine
34	chr7:56031400-56032000	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:56031400-56032200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:56031400-56033800	Active TSS	Fetal Kidney	kidney
37	chr7:56031600-56031800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:56031600-56031800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr7:56031600-56031800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:56031600-56031800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:56031600-56031800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr7:56031600-56031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:56031600-56031800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:56031600-56031800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:56031600-56031800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:56031600-56031800	Enhancers	Aorta	Aorta
47	chr7:56031600-56031800	Enhancers	Liver	Liver
48	chr7:56031600-56031800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr7:56031600-56031800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:56031600-56031800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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