Variant report

Variant	rs5749224
Chromosome Location	chr22:31558549-31558550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:31558520-31558670	GM12868	blood:	n/a	n/a
2	CTCF	chr22:31558517-31558557	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr22:31558500-31558650	GM12873	blood:	n/a	n/a
4	CTCF	chr22:31558440-31558590	GM12865	blood:	n/a	n/a
5	RAD21	chr22:31558399-31558613	IMR90	lung:	n/a	n/a
6	CTCF	chr22:31558400-31558550	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr22:31558440-31558590	HCFaa	heart:	n/a	n/a
8	CTCF	chr22:31558420-31558570	GM12878	blood:	n/a	n/a
9	CTCF	chr22:31558440-31558590	AG10803	skin:	n/a	n/a
10	CTCF	chr22:31558440-31558590	AG09309	skin:	n/a	n/a
11	CTCF	chr22:31558476-31558574	IMR90	lung:	n/a	n/a
12	CTCF	chr22:31558420-31558570	HMF	breast:	n/a	n/a
13	CTCF	chr22:31558420-31558570	AG09319	gingival:	n/a	n/a
14	CTCF	chr22:31558420-31558570	GM12864	blood:	n/a	n/a
15	CTCF	chr22:31558420-31558570	MCF-7	breast:	n/a	n/a
16	CTCF	chr22:31558420-31558570	HMEC	breast:	n/a	n/a
17	CTCF	chr22:31558440-31558590	AG04450	lung:	n/a	n/a
18	CTCF	chr22:31558420-31558570	HCM	heart:	n/a	n/a
19	CTCF	chr22:31558500-31558650	GM12872	blood:	n/a	n/a
20	CTCF	chr22:31558420-31558570	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr22:31558440-31558590	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr22:31558420-31558570	AG04449	skin:	n/a	n/a
23	CTCF	chr22:31558440-31558590	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr22:31558440-31558590	AG04449	skin:	n/a	n/a
25	CTCF	chr22:31558480-31558630	AG04450	lung:	n/a	n/a
26	CTCF	chr22:31558440-31558590	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr22:31558540-31558690	SAEC	small airway:	n/a	n/a
28	CTCF	chr22:31558520-31558670	HRE	kidney:	n/a	n/a
29	CTCF	chr22:31558440-31558590	BJ	skin:	n/a	n/a
30	CTCF	chr22:31558478-31558563	LNCaP	prostate:	n/a	n/a
31	CTCF	chr22:31558440-31558590	HMF	breast:	n/a	n/a
32	CTCF	chr22:31558440-31558590	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr22:31558440-31558590	AG09319	gingival:	n/a	n/a
34	CTCF	chr22:31558400-31558550	BJ	skin:	n/a	n/a
35	CTCF	chr22:31558530-31558599	GM20000	blood:	n/a	n/a
36	CTCF	chr22:31558500-31558650	GM12871	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31557219..31558911-chr22:31606404..31608667,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3928	TF binding region
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1034588	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1034589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056485	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs13158	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1858821	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2040533	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2073857	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2078803	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2079431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2106294	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2228619	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2232170	0.85[CEU][hapmap]
rs2232176	0.85[CEU][hapmap]
rs2283879	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2283881	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2413031	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2413032	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2413033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413034	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2413035	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2413046	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2413047	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2413049	0.85[EUR][1000 genomes]
rs4141404	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4299418	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4603880	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4820042	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820043	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4820951	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820955	1.00[CEU][hapmap]
rs4820962	0.81[EUR][1000 genomes]
rs4820963	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs5749222	0.81[AMR][1000 genomes]
rs5749229	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753500	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753505	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753507	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753521	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753543	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs5997893	0.81[AMR][1000 genomes]
rs5997902	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997912	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997913	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997933	0.85[EUR][1000 genomes]
rs5997939	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs714909	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs715510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7287267	0.81[EUR][1000 genomes]
rs737684	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs737887	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs737888	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8135344	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8135347	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8135417	0.81[AMR][1000 genomes]
rs9606830	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9606831	0.81[EUR][1000 genomes]
rs9609264	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9609265	0.81[EUR][1000 genomes]
rs9609266	0.81[EUR][1000 genomes]
rs9609267	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5749224	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749224	SFI1	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31555600-31559400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr22:31556600-31558600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:31557000-31558600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:31557000-31558800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:31557000-31558800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:31557000-31558800	Flanking Active TSS	Liver	Liver
7	chr22:31557000-31559200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
11	chr22:31557200-31558600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:31557200-31558600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr22:31557200-31558600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:31557200-31558600	Enhancers	Brain Substantia Nigra	brain
15	chr22:31557200-31558800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:31557200-31558800	Enhancers	Small Intestine	intestine
17	chr22:31557200-31561400	Weak transcription	Fetal Thymus	thymus
18	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:31557400-31558600	Enhancers	Primary hematopoietic stem cells	blood
22	chr22:31557400-31558600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:31557400-31558600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:31557400-31558800	Enhancers	Fetal Brain Male	brain
25	chr22:31557400-31559200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:31557400-31559200	Weak transcription	Pancreas	Pancrea
27	chr22:31557400-31559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:31557400-31559600	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr22:31557400-31561400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:31557400-31561600	Weak transcription	Lung	lung
31	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
33	chr22:31557400-31569200	Weak transcription	A549	lung
34	chr22:31557400-31575000	Weak transcription	Gastric	stomach
35	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:31557600-31558600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:31557600-31558600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:31557600-31558800	Enhancers	Brain Germinal Matrix	brain
41	chr22:31557600-31558800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr22:31557600-31558800	Enhancers	Colon Smooth Muscle	Colon
43	chr22:31557600-31558800	Enhancers	HUVEC	blood vessel
44	chr22:31557600-31559000	Enhancers	HSMM	muscle
45	chr22:31557600-31559200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:31557600-31559400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:31557600-31559600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr22:31557600-31561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31557600-31561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart

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