Variant report

Variant	rs2267320
Chromosome Location	chr22:34314120-34314121
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	POLR2A	chr22:34313831-34314142	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr22:34313628-34314227	GM12878	blood:	n/a	n/a
3	RAD21	chr22:34313742-34314255	H1-hESC	embryonic stem cell:	n/a	chr22:34313959-34313978
4	FOXM1	chr22:34313670-34314173	GM12878	blood:	n/a	n/a
5	CTCF	chr22:34313373-34314280	A549	lung:	n/a	chr22:34313956-34313977
6	CTCF	chr22:34313848-34314130	GM12892	blood:	n/a	chr22:34313956-34313977
7	CTCF	chr22:34313747-34314229	MCF-7	breast:	n/a	chr22:34313956-34313977
8	BCLAF1	chr22:34313700-34314146	GM12878	blood:	n/a	n/a
9	RAD21	chr22:34313686-34314253	H1-hESC	embryonic stem cell:	n/a	chr22:34313959-34313978
10	POLR2A	chr22:34313581-34314254	GM12892	blood:	n/a	n/a
11	POLR2A	chr22:34313653-34314168	GM12891	blood:	n/a	n/a
12	RAD21	chr22:34313681-34314135	HepG2	liver:	n/a	chr22:34313959-34313978
13	CTCF	chr22:34313818-34314165	MCF-7	breast:	n/a	chr22:34313956-34313977
14	TBL1XR1	chr22:34313758-34314253	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:34313716-34314378	GM12892	blood:	n/a	n/a
16	YY1	chr22:34313769-34314135	GM12878	blood:	n/a	n/a
17	ZNF143	chr22:34313788-34314232	GM12878	blood:	n/a	n/a
18	CEBPB	chr22:34313845-34314128	IMR90	lung:	n/a	n/a
19	RAD21	chr22:34313517-34314135	GM12878	blood:	n/a	chr22:34313959-34313978
20	RAD21	chr22:34313732-34314170	HepG2	liver:	n/a	chr22:34313959-34313978
21	MTA3	chr22:34313576-34314192	GM12878	blood:	n/a	n/a
22	SMC3	chr22:34313778-34314129	HepG2	liver:	n/a	n/a
23	CEBPB	chr22:34313574-34314408	GM12878	blood:	n/a	n/a
24	CTCF	chr22:34313846-34314121	GM19239	blood:	n/a	chr22:34313956-34313977
25	RAD21	chr22:34313798-34314125	SK-N-SH_RA	brain:	n/a	chr22:34313959-34313978
26	CTCF	chr22:34313980-34314130	HFF-Myc	foreskin:	n/a	n/a
27	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228
28	CTCF	chr22:34313763-34314129	H1-hESC	embryonic stem cell:	n/a	chr22:34313956-34313977
29	FOXM1	chr22:34313700-34314276	GM12878	blood:	n/a	n/a
30	CTCF	chr22:34314020-34314170	WI-38	lung:	n/a	n/a
31	RAD21	chr22:34313729-34314213	MCF-7	breast:	n/a	chr22:34313959-34313978
32	RAD21	chr22:34313814-34314154	HepG2	liver:	n/a	chr22:34313959-34313978
33	POLR2A	chr22:34313608-34314289	GM12892	blood:	n/a	n/a
34	CTCF	chr22:34313740-34314187	GM12878	blood:	n/a	chr22:34313956-34313977
35	RAD21	chr22:34313691-34314154	H1-hESC	embryonic stem cell:	n/a	chr22:34313959-34313978
36	RUNX3	chr22:34313597-34314153	GM12878	blood:	n/a	n/a
37	RUNX3	chr22:34313471-34314160	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:34313998-34314165	MCF-7	breast:	n/a	n/a
39	RAD21	chr22:34313636-34314570	SK-N-SH	brain:	n/a	chr22:34313959-34313978
40	RAD21	chr22:34313726-34314122	GM12878	blood:	n/a	chr22:34313959-34313978
41	BCLAF1	chr22:34313588-34314217	GM12878	blood:	n/a	n/a
42	CTCF	chr22:34313854-34314122	GM19240	blood:	n/a	chr22:34313956-34313977
43	GTF2F1	chr22:34314099-34314167	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr22:34313705-34314187	A549	lung:	n/a	chr22:34313959-34313978
45	RAD21	chr22:34313714-34314205	A549	lung:	n/a	chr22:34313959-34313978
46	CTCF	chr22:34313783-34314146	H1-hESC	embryonic stem cell:	n/a	chr22:34313956-34313977
47	CTCF	chr22:34313762-34314147	IMR90	lung:	n/a	chr22:34313956-34313977
48	RAD21	chr22:34313760-34314222	IMR90	lung:	n/a	chr22:34313959-34313978
49	RAD21	chr22:34313682-34314185	MCF-7	breast:	n/a	chr22:34313959-34313978
50	SMC3	chr22:34313706-34314147	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:34269243..34272868-chr22:34312880..34316299,3	MCF-7	breast:
2	chr22:34296673..34299632-chr22:34313962..34315661,2	MCF-7	breast:
3	chr22:34256859..34259072-chr22:34312887..34314818,2	MCF-7	breast:
4	chr22:34312443..34314367-chr22:35604933..35607464,2	K562	blood:

Variant related genes	Relation type
ENSG00000273082	TF binding region
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12628949	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2267321	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3210587	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749693	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
2	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr22:34305600-34314200	Weak transcription	Aorta	Aorta
4	chr22:34306000-34314800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr22:34306200-34314200	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:34306400-34315000	Weak transcription	NHLF	lung
7	chr22:34307000-34314600	Weak transcription	Spleen	Spleen
8	chr22:34307000-34315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:34307200-34314200	Weak transcription	Fetal Stomach	stomach
10	chr22:34307200-34314600	Weak transcription	Fetal Intestine Large	intestine
11	chr22:34308200-34314400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:34308200-34315000	Weak transcription	Brain Substantia Nigra	brain
13	chr22:34309400-34314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:34310800-34314200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:34310800-34314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:34311800-34315000	Enhancers	Fetal Brain Male	brain
17	chr22:34312000-34314400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:34312800-34314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:34312800-34314400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr22:34312800-34314800	Flanking Active TSS	Fetal Heart	heart
21	chr22:34312800-34315400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:34313000-34315200	Active TSS	Brain Anterior Caudate	brain
23	chr22:34313200-34314800	Enhancers	Primary B cells from peripheral blood	blood
24	chr22:34313200-34314800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr22:34313200-34314800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:34313200-34315200	Enhancers	Fetal Lung	lung
27	chr22:34313400-34314400	Enhancers	HSMMtube	muscle
28	chr22:34313400-34314800	Active TSS	Right Ventricle	heart
29	chr22:34313600-34314200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr22:34313600-34314200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr22:34313600-34314200	Enhancers	Brain Angular Gyrus	brain
32	chr22:34313600-34314400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr22:34313600-34314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:34313600-34314800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr22:34313600-34314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:34313600-34315000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:34313600-34315400	Enhancers	Stomach Mucosa	stomach
38	chr22:34313600-34315800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:34313600-34315800	Flanking Active TSS	Fetal Brain Female	brain
40	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:34313800-34314200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:34313800-34314200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:34313800-34314200	Weak transcription	Fetal Kidney	kidney
44	chr22:34313800-34314200	Enhancers	Gastric	stomach
45	chr22:34313800-34314200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr22:34313800-34314200	Enhancers	Small Intestine	intestine
47	chr22:34313800-34314200	Enhancers	NH-A	brain
48	chr22:34313800-34314400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:34313800-34314400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:34313800-34314600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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