Variant report

Variant	rs3788332
Chromosome Location	chr22:22171567-22171568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22151929..22155942-chr22:22170786..22174182,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11704205	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13943	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1892846	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1892848	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2006893	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2266967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283792	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283794	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298432	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs240049	0.89[CEU][hapmap]
rs28566555	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34550586	0.83[ASN][1000 genomes]
rs3810609	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3810610	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4478016	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4516540	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821402	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55762115	0.82[EUR][1000 genomes]
rs5749806	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749937	0.86[EUR][1000 genomes]
rs5749986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5750113	0.96[CEU][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5755099	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5755654	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5755694	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5999515	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5999521	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5999550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5999750	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6518986	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6928	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743409	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs8136590	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8136867	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8141851	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9607287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9607340	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9607347	0.88[EUR][1000 genomes]
rs9610315	0.81[AFR][1000 genomes]
rs9610371	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610375	0.96[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9610400	0.88[AFR][1000 genomes]
rs9610458	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9610500	0.81[ASN][1000 genomes]
rs9610505	0.82[EUR][1000 genomes]
rs9610533	0.81[EUR][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	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3788332	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs3788332	PPM1F	cis	uninvolved skin	skin_eQTL
rs3788332	TOP3BP1	cis	Adipose Subcutaneous	GTEx
rs3788332	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs3788332	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs3788332	LL22NC03-86G7.1	cis	Whole Blood	GTEx
rs3788332	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs3788332	MAPK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:22160000-22171600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:22160600-22171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:22160600-22172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:22160800-22172400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:22161400-22173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:22161600-22182000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:22162000-22172600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:22162000-22172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:22162200-22172200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:22162200-22178600	Weak transcription	HepG2	liver
13	chr22:22162400-22172200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:22162400-22172400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:22162400-22177800	Weak transcription	Aorta	Aorta
16	chr22:22162600-22172800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:22162800-22171600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:22162800-22173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:22164600-22172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:22165600-22173000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:22166600-22173400	Weak transcription	Fetal Brain Female	brain
22	chr22:22166800-22172800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:22169800-22173200	Enhancers	Fetal Muscle Leg	muscle
24	chr22:22169800-22175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr22:22170000-22171800	Enhancers	Stomach Mucosa	stomach
26	chr22:22170000-22173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:22170000-22174800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:22170000-22175200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:22170400-22171600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:22170400-22171600	Enhancers	Fetal Kidney	kidney
31	chr22:22170400-22171600	Flanking Active TSS	HUVEC	blood vessel
32	chr22:22170400-22171800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr22:22170400-22171800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr22:22170400-22171800	Transcr. at gene 5' and 3'	K562	blood
35	chr22:22170400-22172000	Enhancers	Colon Smooth Muscle	Colon
36	chr22:22170400-22172000	Enhancers	Fetal Intestine Small	intestine
37	chr22:22170400-22172000	Enhancers	Fetal Lung	lung
38	chr22:22170400-22172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:22170400-22172400	Enhancers	HMEC	breast
40	chr22:22170400-22172800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr22:22170400-22172800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr22:22170400-22173400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:22170400-22173800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:22170400-22174000	Enhancers	Brain Cingulate Gyrus	brain
45	chr22:22170400-22174600	Enhancers	Brain Anterior Caudate	brain
46	chr22:22170400-22174600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:22170600-22171800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr22:22170600-22171800	Enhancers	Hela-S3	cervix
49	chr22:22170600-22172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:22170600-22172000	Flanking Active TSS	GM12878-XiMat	blood

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