Variant report

Variant	rs16993248
Chromosome Location	chr22:34286066-34286067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr22:34285657-34286091	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr22:34285624-34286075	GM12878	blood:	n/a	n/a
3	RUNX3	chr22:34285642-34286166	GM12878	blood:	n/a	n/a
4	MAZ	chr22:34285700-34286097	GM12878	blood:	n/a	n/a
5	EBF1	chr22:34285743-34286068	GM12878	blood:	n/a	chr22:34285899-34285910
6	MTA3	chr22:34285594-34286130	GM12878	blood:	n/a	n/a
7	EBF1	chr22:34285740-34286072	GM12878	blood:	n/a	chr22:34285899-34285910
8	MAX	chr22:34285821-34286254	GM12878	blood:	n/a	n/a
9	BCLAF1	chr22:34285684-34286171	GM12878	blood:	n/a	n/a
10	EBF1	chr22:34285699-34286123	GM12878	blood:	n/a	chr22:34285899-34285910
11	POLR2A	chr22:34285788-34286339	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34277917..34281628-chr22:34285820..34288664,3	MCF-7	breast:
2	chr22:34261283..34264105-chr22:34285527..34288136,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005679	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11704514	1.00[CEU][hapmap]
rs2213360	0.92[CHB][hapmap]
rs2267312	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267313	0.93[CHB][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2267314	0.93[CHB][hapmap]
rs2267315	0.93[CHB][hapmap]
rs2267316	0.93[CHB][hapmap]
rs2283957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2283958	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283959	1.00[CHB][hapmap]
rs2413207	0.99[ASN][1000 genomes]
rs5754748	0.93[ASN][1000 genomes]
rs5754752	0.92[CHB][hapmap]
rs61356969	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34271600-34287400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr22:34273200-34292200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:34274600-34291200	Enhancers	Fetal Heart	heart
4	chr22:34279000-34287200	Enhancers	Left Ventricle	heart
5	chr22:34280000-34292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:34280600-34289200	Weak transcription	Stomach Mucosa	stomach
7	chr22:34280800-34288200	Weak transcription	Ovary	ovary
8	chr22:34280800-34293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:34281000-34287800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:34281000-34288000	Weak transcription	Gastric	stomach
11	chr22:34281000-34289800	Weak transcription	Pancreas	Pancrea
12	chr22:34281200-34289800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:34283000-34292000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:34283200-34287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:34284000-34288000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:34284200-34286400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:34284600-34287200	Enhancers	Primary B cells from peripheral blood	blood
18	chr22:34284800-34286200	Enhancers	Fetal Brain Female	brain
19	chr22:34284800-34286400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr22:34285000-34287400	Enhancers	Fetal Brain Male	brain
21	chr22:34285000-34292400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:34285200-34286400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:34285200-34286400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr22:34285400-34286200	Enhancers	Fetal Muscle Trunk	muscle
25	chr22:34285400-34286200	Enhancers	Fetal Muscle Leg	muscle
26	chr22:34285400-34286200	Enhancers	Spleen	Spleen
27	chr22:34285400-34286400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:34285400-34286400	Enhancers	Adipose Nuclei	Adipose
29	chr22:34285400-34290800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:34285600-34286200	Enhancers	Aorta	Aorta
31	chr22:34285600-34286200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:34285600-34286200	Enhancers	Lung	lung
33	chr22:34285600-34286200	Enhancers	Psoas Muscle	Psoas
34	chr22:34285600-34286200	Enhancers	Right Atrium	heart
35	chr22:34285600-34286600	Enhancers	Right Ventricle	heart
36	chr22:34285600-34287400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr22:34285600-34288400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:34285600-34290600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:34285800-34286200	Enhancers	Esophagus	oesophagus
40	chr22:34285800-34286200	Flanking Active TSS	GM12878-XiMat	blood
41	chr22:34285800-34286800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:34285800-34287400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr22:34285800-34287400	Weak transcription	Brain Anterior Caudate	brain
44	chr22:34286000-34286400	Enhancers	Colon Smooth Muscle	Colon
45	chr22:34286000-34290400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:34286000-34291800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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