Variant report

Variant	rs4821402
Chromosome Location	chr22:22214746-22214747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:22090286..22091894-chr22:22213594..22215383,2	K562	blood:
2	chr22:22106546..22109125-chr22:22213093..22217007,3	K562	blood:
3	chr22:22152190..22154790-chr22:22212102..22214935,2	K562	blood:
4	chr22:22213474..22215679-chr22:22295559..22297905,2	K562	blood:
5	chr22:22109446..22111678-chr22:22212530..22215943,3	K562	blood:
6	chr22:22214377..22217269-chr22:22270465..22272236,2	K562	blood:
7	chr22:22214459..22216482-chr22:22291355..22293797,2	K562	blood:
8	chr22:22214454..22216771-chr22:22219531..22222744,4	MCF-7	breast:
9	chr22:22212022..22215482-chr22:22220244..22222836,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11704205	1.00[CEU][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs13943	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs1892846	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1892848	1.00[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2006893	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2266967	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283792	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2283794	0.96[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs240049	0.89[CEU][hapmap]
rs28566555	0.82[EUR][1000 genomes]
rs3788332	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810609	0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs3810610	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4478016	0.94[EUR][1000 genomes]
rs4516540	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55762115	0.82[EUR][1000 genomes]
rs5749806	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs5749937	0.85[EUR][1000 genomes]
rs5749986	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749998	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5750113	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5755099	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs5755654	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5755694	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5999515	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs5999521	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs5999550	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5999750	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6518986	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6928	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs743409	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs8136590	0.92[EUR][1000 genomes]
rs8136867	0.82[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8141851	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9607287	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9607340	0.87[EUR][1000 genomes]
rs9607347	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9610371	0.81[EUR][1000 genomes]
rs9610375	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs9610458	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9610505	0.82[EUR][1000 genomes]
rs9610533	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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	97 gene(s)	inside rSNPs	diseases
11	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
14	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	47 gene(s)	inside rSNPs	diseases
17	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
18	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
20	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
25	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
26	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
27	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription 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	46 gene(s)	inside rSNPs	diseases
28	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4821402	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs4821402	LL22NC03-86G7.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4821402	PPM1F	cis	uninvolved skin	skin_eQTL
rs4821402	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs4821402	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs4821402	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs4821402	MAPK1	Cis_1M	lymphoblastoid	RTeQTL
rs4821402	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22192200-22220200	Weak transcription	Placenta	Placenta
2	chr22:22192400-22214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:22193000-22219200	Weak transcription	NH-A	brain
4	chr22:22193200-22215000	Weak transcription	HSMM	muscle
5	chr22:22193200-22217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:22194000-22220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:22201600-22215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:22203000-22219600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:22203800-22219400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr22:22204200-22215000	Weak transcription	A549	lung
11	chr22:22205600-22214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:22205600-22215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:22205800-22215600	Weak transcription	NHEK	skin
14	chr22:22207800-22217000	Genic enhancers	K562	blood
15	chr22:22208200-22219400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:22208400-22217600	Enhancers	Fetal Heart	heart
17	chr22:22208800-22218600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr22:22208800-22219000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr22:22209000-22215600	Enhancers	Brain Anterior Caudate	brain
20	chr22:22209000-22216000	Enhancers	Brain Angular Gyrus	brain
21	chr22:22209000-22219000	Enhancers	Colon Smooth Muscle	Colon
22	chr22:22209200-22218400	Weak transcription	Brain Germinal Matrix	brain
23	chr22:22209200-22220000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr22:22209400-22219200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr22:22209800-22220200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr22:22210000-22216200	Enhancers	Left Ventricle	heart
27	chr22:22210000-22216400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:22210000-22219400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr22:22210200-22219400	Weak transcription	Fetal Kidney	kidney
30	chr22:22210400-22214800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:22210400-22218400	Weak transcription	Fetal Brain Male	brain
32	chr22:22210800-22218200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:22210800-22220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:22211000-22216800	Enhancers	Primary T cells from cord blood	blood
35	chr22:22211400-22219600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:22211400-22220200	Enhancers	Primary B cells from peripheral blood	blood
37	chr22:22211600-22216400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr22:22211600-22216400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr22:22211600-22219400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:22211800-22217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr22:22212000-22220600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr22:22212000-22221000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr22:22212200-22218800	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:22212200-22219600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr22:22212600-22215000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr22:22212600-22215000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:22212600-22215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:22212600-22215200	Weak transcription	Fetal Lung	lung
49	chr22:22212600-22216200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr22:22212600-22218200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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