Variant report

Variant	rs57907583
Chromosome Location	chr22:30743692-30743693
allele	A/G
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:6)
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	POLR2A	chr22:30743182-30743988	GM12892	blood:	n/a	n/a
2	FOS	chr22:30743614-30743818	MCF10A-Er-Src	breast:	n/a	n/a
3	BATF	chr22:30743585-30743866	GM12878	blood:	n/a	n/a
4	BATF	chr22:30743561-30743817	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:30743662-30743723	MCF-7	breast:	n/a	n/a
6	POLR2A	chr22:30743237-30744083	GM12878	blood:	n/a	n/a
7	MTA3	chr22:30743468-30743965	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:30743245-30743930	GM12878	blood:	n/a	n/a
9	RUNX3	chr22:30743255-30743837	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:30743341-30743985	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30742935..30744847-chr22:30751446..30753348,3	MCF-7	breast:
2	chr22:30743157..30744840-chr22:30750667..30752921,2	K562	blood:
3	chr22:30743396..30745762-chr22:30751227..30753350,3	MCF-7	breast:
4	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
5	chr22:30722860..30724693-chr22:30742029..30744821,2	K562	blood:
6	chr22:30730281..30734311-chr22:30742898..30745201,3	MCF-7	breast:

No data

Variant related genes	Relation type
SF3A1	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12157860	1.00[AMR][1000 genomes]
rs5997621	1.00[AMR][1000 genomes]
rs7287885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7291572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881407	1.00[AMR][1000 genomes]
rs73881419	1.00[AMR][1000 genomes]
rs73881429	1.00[AMR][1000 genomes]
rs73881440	1.00[AMR][1000 genomes]
rs73881449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881452	0.88[AFR][1000 genomes]
rs73881454	0.83[AFR][1000 genomes]
rs8137033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8142835	1.00[AMR][1000 genomes]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:30724400-30750000	Strong transcription	Thymus	Thymus
3	chr22:30724600-30750200	Strong transcription	Osteobl	bone
4	chr22:30724800-30745200	Strong transcription	NHEK	skin
5	chr22:30724800-30750200	Strong transcription	Fetal Intestine Small	intestine
6	chr22:30725400-30749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:30725400-30750000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:30725600-30744200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:30725600-30750200	Strong transcription	Fetal Intestine Large	intestine
10	chr22:30725800-30748000	Strong transcription	Dnd41	blood
11	chr22:30726400-30745400	Strong transcription	HSMM	muscle
12	chr22:30726400-30747000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:30726400-30749600	Strong transcription	Fetal Brain Female	brain
14	chr22:30726400-30749600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:30726400-30750200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30726400-30750200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:30726600-30744000	Strong transcription	Rectal Smooth Muscle	rectum
18	chr22:30726600-30744600	Strong transcription	Primary T cells from cord blood	blood
19	chr22:30726600-30744600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:30726600-30749200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr22:30726600-30749600	Strong transcription	Primary B cells from cord blood	blood
22	chr22:30726600-30749800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:30726600-30750000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:30726600-30750000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:30726600-30750200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:30726600-30750400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:30726600-30750400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:30726600-30750400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr22:30726600-30750600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr22:30726600-30750600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:30726600-30750800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:30726600-30750800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:30726800-30749000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30726800-30749200	Strong transcription	Brain Germinal Matrix	brain
35	chr22:30726800-30749600	Strong transcription	NH-A	brain
36	chr22:30726800-30750600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr22:30726800-30750800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:30727000-30750000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:30728200-30745000	Strong transcription	NHLF	lung
40	chr22:30728200-30749000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr22:30728400-30745200	Strong transcription	Colon Smooth Muscle	Colon
42	chr22:30728600-30744200	Strong transcription	Pancreas	Pancrea
43	chr22:30729400-30744600	Strong transcription	Fetal Kidney	kidney
44	chr22:30729600-30749200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr22:30729800-30750000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30730000-30745200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr22:30730000-30750400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:30730000-30750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:30730200-30750200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30730200-30750400	Strong transcription	Rectal Mucosa Donor 29	rectum

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