Variant report

Variant	rs2040168
Chromosome Location	chr22:22080402-22080403
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr22:22080370-22080811	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr22:22080358-22080736	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr22:22080379-22081524	K562	blood:	n/a	n/a
4	TEAD4	chr22:22080385-22080830	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22079397..22081685-chr22:22219818..22221978,2	K562	blood:
2	chr22:22078839..22080423-chr22:22293104..22295594,2	K562	blood:
3	chr22:22067102..22068170-chr22:22080299..22081635,13	K562	blood:
4	chr22:21995484..21997437-chr22:22079170..22081079,2	MCF-7	breast:
5	chr22:22080317..22081666-chr22:22292337..22293570,6	K562	blood:
6	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
7	chr22:22080235..22082660-chr22:22313495..22315266,2	K562	blood:
8	chr22:22080117..22083235-chr22:22087991..22091300,5	MCF-7	breast:
9	chr22:22080051..22081735-chr22:22313495..22315622,2	K562	blood:
10	chr22:22066649..22069201-chr22:22080378..22082874,2	MCF-7	breast:
11	chr22:22079960..22082455-chr22:22217388..22219689,2	K562	blood:
12	chr22:22078529..22081108-chr22:22293630..22295238,2	K562	blood:
13	chr22:22080127..22082502-chr22:22094447..22097357,2	K562	blood:
14	chr22:22077279..22079847-chr22:22080289..22082120,2	K562	blood:
15	chr22:21981226..21984550-chr22:22079610..22083014,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL280P	TF binding region
ENSG00000244671	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11089745	1.00[AFR][1000 genomes]
rs11703350	1.00[AFR][1000 genomes]
rs11703624	1.00[AFR][1000 genomes]
rs11704433	1.00[AFR][1000 genomes]
rs11704597	1.00[AFR][1000 genomes]
rs12172215	1.00[AFR][1000 genomes]
rs12172286	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12172360	1.00[AFR][1000 genomes]
rs13058633	1.00[AFR][1000 genomes]
rs2040167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2266968	1.00[AFR][1000 genomes]
rs2276005	1.00[AFR][1000 genomes]
rs2276006	1.00[AFR][1000 genomes]
rs2298434	1.00[AFR][1000 genomes]
rs4821263	1.00[AFR][1000 genomes]
rs4821336	1.00[AFR][1000 genomes]
rs5749769	1.00[AFR][1000 genomes]
rs5749779	1.00[AFR][1000 genomes]
rs5749792	1.00[AFR][1000 genomes]
rs5749939	1.00[AFR][1000 genomes]
rs5754916	1.00[AFR][1000 genomes]
rs5755008	1.00[AFR][1000 genomes]
rs5755040	1.00[AFR][1000 genomes]
rs5755074	1.00[AFR][1000 genomes]
rs61757967	1.00[AFR][1000 genomes]
rs71314794	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9607207	1.00[AMR][1000 genomes]
rs9607209	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607210	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607274	1.00[AFR][1000 genomes]
rs9607286	1.00[AFR][1000 genomes]
rs9610174	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9610181	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9610199	1.00[AFR][1000 genomes]
rs9610219	1.00[AFR][1000 genomes]
rs9610228	1.00[AFR][1000 genomes]
rs9610355	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
7	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
8	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:22068000-22081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:22068000-22081000	Weak transcription	Brain Anterior Caudate	brain
11	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
13	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
15	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:22069200-22080800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
19	chr22:22069400-22080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:22069400-22080800	Weak transcription	Dnd41	blood
21	chr22:22069400-22081000	Weak transcription	Brain Germinal Matrix	brain
22	chr22:22071000-22080800	Weak transcription	Fetal Muscle Leg	muscle
23	chr22:22073600-22082200	Weak transcription	Lung	lung
24	chr22:22073600-22088800	Weak transcription	Gastric	stomach
25	chr22:22074000-22081000	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
27	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:22077000-22081400	Strong transcription	Right Atrium	heart
29	chr22:22077200-22085000	Weak transcription	Ovary	ovary
30	chr22:22077200-22088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:22077400-22080600	Weak transcription	Fetal Thymus	thymus
32	chr22:22078600-22080600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:22078600-22080800	Weak transcription	Fetal Stomach	stomach
34	chr22:22078800-22080600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr22:22078800-22080600	Weak transcription	GM12878-XiMat	blood
36	chr22:22078800-22080800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:22080000-22081200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:22080000-22081600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr22:22080000-22081800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:22080200-22081400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:22080200-22081400	Enhancers	Fetal Heart	heart
42	chr22:22080200-22081600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:22080400-22081200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:22080400-22081600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr22:22080400-22081600	Enhancers	Thymus	Thymus
46	chr22:22080400-22082000	Enhancers	Skeletal Muscle Female	skeletal muscle

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