Variant report

Variant	rs5755654
Chromosome Location	chr22:22192477-22192478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11704205	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1892846	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892848	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266967	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283794	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3788332	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4478016	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4516540	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4821402	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749986	0.84[ASN][1000 genomes]
rs5749998	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5750113	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5755694	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5999515	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5999521	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5999550	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5999750	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6518986	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8136590	0.86[ASN][1000 genomes]
rs8136867	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8141851	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9607287	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9607347	0.81[AMR][1000 genomes]
rs9610458	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9610500	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs5755654	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs5755654	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs5755654	MAPK1	Cis_1M	lymphoblastoid	RTeQTL
rs5755654	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs5755654	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs5755654	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22182600-22210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:22185400-22200400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:22187000-22195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:22187200-22198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:22187200-22198400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:22187200-22200200	Weak transcription	Spleen	Spleen
7	chr22:22187800-22211000	Weak transcription	Dnd41	blood
8	chr22:22189000-22193200	Enhancers	Colon Smooth Muscle	Colon
9	chr22:22189200-22193200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:22189200-22193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:22189200-22196000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:22189600-22197400	Weak transcription	Esophagus	oesophagus
13	chr22:22189600-22198600	Weak transcription	Thymus	Thymus
14	chr22:22189600-22200600	Weak transcription	Ovary	ovary
15	chr22:22190000-22197600	Weak transcription	Lung	lung
16	chr22:22190000-22201200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:22190200-22193000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:22190200-22193000	Weak transcription	GM12878-XiMat	blood
19	chr22:22190200-22197200	Weak transcription	Primary T cells from cord blood	blood
20	chr22:22190400-22193400	Weak transcription	Pancreas	Pancrea
21	chr22:22190400-22200600	Weak transcription	Brain Germinal Matrix	brain
22	chr22:22190800-22192600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:22190800-22192600	Enhancers	Fetal Muscle Trunk	muscle
24	chr22:22190800-22192600	Enhancers	Right Atrium	heart
25	chr22:22190800-22193200	Enhancers	Rectal Smooth Muscle	rectum
26	chr22:22191000-22192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:22191000-22192600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:22191000-22193400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr22:22191000-22197400	Weak transcription	Primary B cells from cord blood	blood
30	chr22:22191200-22192600	Enhancers	Fetal Stomach	stomach
31	chr22:22191200-22193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:22191400-22192600	Enhancers	Brain Angular Gyrus	brain
33	chr22:22191400-22192600	Enhancers	Fetal Muscle Leg	muscle
34	chr22:22191400-22192600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:22191400-22193200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:22191400-22193400	Enhancers	Brain Cingulate Gyrus	brain
37	chr22:22191600-22192600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:22191600-22192600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:22191600-22193000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:22191800-22192600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr22:22191800-22192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:22191800-22192800	Enhancers	Left Ventricle	heart
43	chr22:22191800-22193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:22192000-22192600	Enhancers	Psoas Muscle	Psoas
45	chr22:22192000-22193400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr22:22192000-22197200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:22192000-22197600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:22192000-22198000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:22192200-22193000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:22192200-22193000	Enhancers	HUVEC	blood vessel

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