Variant report

Variant	rs3747158
Chromosome Location	chr22:32342976-32342977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
3	KAP1	chr22:32342546-32343301	K562	blood:	n/a	chr22:32343078-32343087
4	POLR2A	chr22:32339651-32343721	K562	blood:	n/a	n/a
5	POLR2A	chr22:32341627-32345124	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:32342823-32345191	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr22:32338914-32343861	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
9	POLR2A	chr22:32342868-32343709	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr22:32340173-32343627	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
2	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
3	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
4	chr22:32213023..32215994-chr22:32340622..32343238,2	MCF-7	breast:
5	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
6	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
7	22:32284948-32287956..22:32342898-32343477	K562	blood:
8	22:32342898-32343477..22:32846948-32860159	GM12878	blood:
9	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
10	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
11	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
12	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
13	chr22:32056716..32060506-chr22:32341976..32344669,4	MCF-7	breast:
14	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
15	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
16	22:31936958-31958600..22:32342898-32343477	GM12878	blood:

No data

Variant related genes	Relation type
C22orf24	TF binding region
YWHAH	TF binding region
ENSG00000230866	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1049583	0.89[CHB][hapmap]
rs12168840	0.89[CHB][hapmap]
rs130262	0.85[CEU][hapmap]
rs13055495	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13057194	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs135021	0.85[CEU][hapmap]
rs135023	0.84[CEU][hapmap]
rs135110	0.84[CEU][hapmap]
rs1807550	0.81[EUR][1000 genomes]
rs1986211	0.81[EUR][1000 genomes]
rs2246704	0.84[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs2301415	0.89[CHB][hapmap]
rs2413061	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2853884	0.86[CHB][hapmap]
rs2853887	0.86[CHB][hapmap]
rs2858750	0.89[CHB][hapmap]
rs2858752	0.89[CHB][hapmap]
rs2858753	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820059	0.88[CEU][hapmap];0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4821004	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs5994457	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994458	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994461	0.81[EUR][1000 genomes]
rs5998196	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998198	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998201	0.81[EUR][1000 genomes]
rs5998204	0.80[EUR][1000 genomes]
rs8141011	0.89[CHB][hapmap]
rs93108	0.85[CEU][hapmap]
rs9609394	0.89[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:32339600-32343600	Active TSS	Aorta	Aorta
3	chr22:32339600-32343600	Active TSS	Right Atrium	heart
4	chr22:32339800-32343400	Active TSS	Lung	lung
5	chr22:32341400-32343000	Flanking Active TSS	NH-A	brain
6	chr22:32341400-32343200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:32341400-32343400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
8	chr22:32341400-32343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:32341400-32343600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr22:32341600-32343200	Transcr. at gene 5' and 3'	HMEC	breast
11	chr22:32341600-32343400	Transcr. at gene 5' and 3'	NHEK	skin
12	chr22:32341600-32343600	Transcr. at gene 5' and 3'	K562	blood
13	chr22:32341600-32346400	Weak transcription	Spleen	Spleen
14	chr22:32341800-32343000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:32341800-32343000	Active TSS	Fetal Brain Male	brain
16	chr22:32341800-32343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:32341800-32343200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:32341800-32343200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:32341800-32343400	Enhancers	Primary B cells from peripheral blood	blood
20	chr22:32341800-32343400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr22:32341800-32343400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:32341800-32343400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:32341800-32343600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:32341800-32343800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr22:32341800-32346200	Weak transcription	Esophagus	oesophagus
26	chr22:32342000-32343000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr22:32342000-32343000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:32342000-32343000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:32342000-32343200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:32342000-32343400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr22:32342000-32343400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:32342000-32343600	Enhancers	Primary B cells from cord blood	blood
33	chr22:32342000-32343600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:32342000-32343600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:32342000-32344400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
37	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:32342200-32343200	Enhancers	Liver	Liver
39	chr22:32342200-32343200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:32342200-32343400	Enhancers	Primary hematopoietic stem cells	blood
41	chr22:32342200-32343400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr22:32342200-32343400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:32342200-32343400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:32342200-32343600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr22:32342200-32344200	Weak transcription	Gastric	stomach
46	chr22:32342200-32344800	Enhancers	Stomach Mucosa	stomach
47	chr22:32342200-32346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:32342200-32347200	Weak transcription	Ovary	ovary
49	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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