Variant report

Variant	rs5752968
Chromosome Location	chr22:30233446-30233447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:30233342-30235412	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30216228..30218392-chr22:30231989..30234163,2	K562	blood:
2	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
3	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
4	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
5	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
6	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
7	chr22:30232501..30234053-chr22:30238394..30240454,2	K562	blood:
8	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
9	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:
10	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
11	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000100330	Chromatin interaction
ENSG00000100319	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1071888	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12168552	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131278	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs131291	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs131294	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131296	0.95[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs140105	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs140108	0.91[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs140125	0.81[EUR][1000 genomes]
rs140135	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs140142	0.84[EUR][1000 genomes]
rs140151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17643918	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105870	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2349225	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2412960	0.91[CEU][hapmap]
rs2412963	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs249400	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34862234	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35705048	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36578	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36580	0.83[EUR][1000 genomes]
rs36590	0.83[EUR][1000 genomes]
rs36591	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36594	0.82[EUR][1000 genomes]
rs36596	0.82[EUR][1000 genomes]
rs36598	0.82[EUR][1000 genomes]
rs36600	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs36601	0.82[EUR][1000 genomes]
rs36604	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36605	0.82[EUR][1000 genomes]
rs36606	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36607	0.82[EUR][1000 genomes]
rs3788423	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap]
rs3887275	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs3958025	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41162	0.86[CEU][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap]
rs41164	0.82[CEU][hapmap];0.89[TSI][hapmap]
rs4239932	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap]
rs4820820	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820822	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4823055	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4823063	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs4993442	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7286070	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7292615	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737909	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs737912	0.91[CEU][hapmap]
rs8136147	0.83[EUR][1000 genomes]
rs8139994	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141680	0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs9620926	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9625873	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625874	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625878	0.82[EUR][1000 genomes]
rs9625879	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30221800-30233600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30222000-30233600	Weak transcription	Small Intestine	intestine
4	chr22:30229000-30233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:30230400-30233600	Weak transcription	Aorta	Aorta
6	chr22:30230600-30233600	Weak transcription	Esophagus	oesophagus
7	chr22:30232000-30234600	Active TSS	GM12878-XiMat	blood
8	chr22:30232200-30233600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30232800-30233600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:30232800-30233600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:30232800-30233600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:30232800-30233800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:30232800-30233800	Flanking Active TSS	Dnd41	blood
14	chr22:30233000-30233600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:30233000-30233600	Enhancers	Pancreas	Pancrea
16	chr22:30233000-30233600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr22:30233000-30233800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30233000-30233800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30233000-30233800	Flanking Active TSS	Colonic Mucosa	Colon
20	chr22:30233000-30233800	Flanking Active TSS	Right Ventricle	heart
21	chr22:30233000-30233800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr22:30233000-30233800	Enhancers	Spleen	Spleen
23	chr22:30233000-30234000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr22:30233000-30234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:30233000-30234000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr22:30233000-30234400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr22:30233000-30234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30233000-30234800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr22:30233000-30234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:30233200-30233600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr22:30233200-30233800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30233200-30233800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:30233200-30233800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr22:30233200-30234000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr22:30233200-30234000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:30233200-30234000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr22:30233200-30234000	Flanking Active TSS	Fetal Brain Female	brain
38	chr22:30233200-30234000	Flanking Active TSS	NH-A	brain
39	chr22:30233200-30234400	Active TSS	HSMM	muscle
40	chr22:30233200-30234600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr22:30233200-30234600	Active TSS	Stomach Mucosa	stomach
42	chr22:30233200-30234600	Active TSS	A549	lung
43	chr22:30233200-30234600	Active TSS	NHLF	lung
44	chr22:30233200-30234800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:30233400-30233600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr22:30233400-30233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:30233400-30233600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:30233400-30233600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:30233400-30233600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:30233400-30233600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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