Variant report

Variant	rs67258059
Chromosome Location	chr22:34319509-34319510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
2	CTCF	chr22:34319417-34320070	IMR90	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
3	CTCF	chr22:34319336-34320112	SK-N-SH	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
4	CTCF	chr22:34319480-34319607	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr22:34319425-34320078	GM12878	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
6	RAD21	chr22:34319459-34320228	SK-N-SH	brain:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
7	CTCF	chr22:34319420-34319570	GM12864	blood:	n/a	n/a
8	CTCF	chr22:34319483-34320101	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34319321..34320710-chr22:34415195..34416586,9	MCF-7	breast:
2	chr22:34319140..34320261-chr22:34501294..34502117,5	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1005680	1.00[ASN][1000 genomes]
rs10483174	1.00[ASN][1000 genomes]
rs11703305	1.00[ASN][1000 genomes]
rs11704212	1.00[ASN][1000 genomes]
rs11705063	1.00[ASN][1000 genomes]
rs11912024	0.85[AFR][1000 genomes]
rs11912301	1.00[ASN][1000 genomes]
rs11912405	1.00[ASN][1000 genomes]
rs11913804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914012	1.00[ASN][1000 genomes]
rs130523	1.00[ASN][1000 genomes]
rs13055480	1.00[ASN][1000 genomes]
rs16993078	1.00[ASN][1000 genomes]
rs16993089	1.00[ASN][1000 genomes]
rs17747599	1.00[ASN][1000 genomes]
rs2413206	1.00[ASN][1000 genomes]
rs2413208	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34060203	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34290110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375307	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34455747	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34597805	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34871405	1.00[ASN][1000 genomes]
rs35838699	1.00[ASN][1000 genomes]
rs36006309	1.00[ASN][1000 genomes]
rs55819147	1.00[ASN][1000 genomes]
rs55963330	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749698	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5754739	1.00[ASN][1000 genomes]
rs5754746	1.00[ASN][1000 genomes]
rs58634529	1.00[ASN][1000 genomes]
rs5999089	1.00[ASN][1000 genomes]
rs73154536	1.00[ASN][1000 genomes]
rs73154574	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170572	1.00[ASN][1000 genomes]
rs73170587	1.00[ASN][1000 genomes]
rs73170592	1.00[ASN][1000 genomes]
rs73170593	1.00[ASN][1000 genomes]
rs73170600	1.00[ASN][1000 genomes]
rs73171909	1.00[ASN][1000 genomes]
rs73171910	1.00[ASN][1000 genomes]
rs73171912	1.00[ASN][1000 genomes]
rs73171913	1.00[ASN][1000 genomes]
rs73171915	1.00[ASN][1000 genomes]
rs73171921	1.00[ASN][1000 genomes]
rs73171926	1.00[ASN][1000 genomes]
rs73171927	1.00[ASN][1000 genomes]
rs73171931	1.00[ASN][1000 genomes]
rs738987	1.00[ASN][1000 genomes]
rs738989	1.00[ASN][1000 genomes]
rs933215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34316000-34320000	Active TSS	Ovary	ovary
2	chr22:34317200-34319600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr22:34318400-34319600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:34318600-34319600	Flanking Active TSS	Fetal Heart	heart
5	chr22:34318600-34319600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr22:34318600-34319800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:34318600-34319800	Flanking Active TSS	Liver	Liver
8	chr22:34318800-34319600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr22:34319000-34319600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr22:34319000-34319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:34319000-34319600	Enhancers	HSMM	muscle
15	chr22:34319000-34319800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr22:34319000-34319800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr22:34319000-34320000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr22:34319000-34320200	Enhancers	Left Ventricle	heart
19	chr22:34319000-34320200	Bivalent Enhancer	HepG2	liver
20	chr22:34319200-34319600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr22:34319200-34319600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr22:34319200-34319600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:34319200-34319600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr22:34319200-34319600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr22:34319200-34319600	Enhancers	Adipose Nuclei	Adipose
26	chr22:34319200-34319600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr22:34319200-34319600	Enhancers	Fetal Stomach	stomach
28	chr22:34319200-34319600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr22:34319200-34319600	Bivalent Enhancer	Osteobl	bone
30	chr22:34319200-34319800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr22:34319200-34319800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr22:34319200-34319800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:34319200-34319800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr22:34319200-34319800	Enhancers	Brain Anterior Caudate	brain
35	chr22:34319200-34319800	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr22:34319200-34319800	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:34319200-34319800	Enhancers	Fetal Lung	lung
38	chr22:34319200-34320000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:34319400-34319600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:34319400-34319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:34319400-34319600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:34319400-34319600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
43	chr22:34319400-34319600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:34319400-34319600	Enhancers	Brain Hippocampus Middle	brain
45	chr22:34319400-34319600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:34319400-34319600	Bivalent Enhancer	Fetal Kidney	kidney
47	chr22:34319400-34319600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr22:34319400-34319600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr22:34319400-34319600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr22:34319400-34319600	Enhancers	Stomach Smooth Muscle	stomach

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