Variant report

Variant	rs41279977
Chromosome Location	chr22:31606949-31606950
allele	C/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	HEY1	chr22:31606739-31607368	HepG2	liver:	n/a	n/a
2	SMC3	chr22:31606881-31607209	HepG2	liver:	n/a	n/a
3	EP300	chr22:31606731-31607334	HepG2	liver:	n/a	n/a
4	CEBPD	chr22:31606808-31607249	HepG2	liver:	n/a	n/a
5	ELF1	chr22:31606711-31607262	HepG2	liver:	n/a	n/a
6	EP300	chr22:31606777-31607255	HepG2	liver:	n/a	n/a
7	CEBPB	chr22:31606923-31607260	HepG2	liver:	n/a	n/a
8	ELF1	chr22:31606814-31607217	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:31606804-31607178	HepG2	liver:	n/a	n/a
10	MAX	chr22:31606944-31606951	HepG2	liver:	n/a	n/a
11	FOXA1	chr22:31606729-31607218	HepG2	liver:	n/a	n/a
12	YY1	chr22:31606898-31607232	HepG2	liver:	n/a	n/a
13	TEAD4	chr22:31606699-31607341	HepG2	liver:	n/a	n/a
14	MAFF	chr22:31606844-31607147	HepG2	liver:	n/a	n/a
15	CEBPB	chr22:31606866-31607374	HepG2	liver:	n/a	n/a
16	RCOR1	chr22:31606843-31607268	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:31606728-31607232	HepG2	liver:	n/a	n/a
18	RXRA	chr22:31606830-31607267	HepG2	liver:	n/a	chr22:31607072-31607081 chr22:31606951-31606960
19	TCF12	chr22:31606877-31607165	HepG2	liver:	n/a	n/a
20	HNF4A	chr22:31606911-31607206	HepG2	liver:	n/a	chr22:31607073-31607085 chr22:31607072-31607086 chr22:31607071-31607086 chr22:31607073-31607085 chr22:31607073-31607085
21	FOXA2	chr22:31606768-31607188	HepG2	liver:	n/a	n/a
22	POLR2A	chr22:31606652-31607662	HUVEC	blood vessel:	n/a	n/a
23	RFX5	chr22:31606944-31607273	HepG2	liver:	n/a	n/a
24	NFIC	chr22:31606694-31607191	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:31606776-31607231	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr22:31606881-31607126	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr22:31606669-31609617	HUVEC	blood vessel:	n/a	n/a
28	EP300	chr22:31606737-31607244	HepG2	liver:	n/a	n/a
29	MYBL2	chr22:31606705-31607373	HepG2	liver:	n/a	n/a
30	MYBL2	chr22:31606538-31607379	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:31606818-31606962	HUVEC	blood vessel:	n/a	n/a
32	MXI1	chr22:31606595-31607265	HepG2	liver:	n/a	n/a
33	ARID3A	chr22:31606765-31607441	HepG2	liver:	n/a	n/a
34	HDAC2	chr22:31606749-31607291	HepG2	liver:	n/a	chr22:31606991-31607005
35	NFIC	chr22:31606852-31607248	HepG2	liver:	n/a	n/a
36	POLR2A	chr22:31606816-31607172	HepG2	liver:	n/a	n/a
37	REST	chr22:31606808-31607140	PFSK-1	brain:	n/a	chr22:31606936-31606949 chr22:31606886-31606895
38	GATA2	chr22:31606708-31607521	HUVEC	blood vessel:	n/a	n/a
39	MAZ	chr22:31606944-31607291	HepG2	liver:	n/a	n/a
40	MAFK	chr22:31606813-31607155	HepG2	liver:	n/a	n/a
41	HNF4A	chr22:31606772-31607259	HepG2	liver:	n/a	chr22:31607073-31607085 chr22:31607072-31607086 chr22:31607071-31607086 chr22:31607073-31607085 chr22:31607073-31607085
42	MAFK	chr22:31606823-31607158	HepG2	liver:	n/a	n/a
43	SP1	chr22:31606683-31607319	HepG2	liver:	n/a	chr22:31607093-31607107
44	POLR2A	chr22:31606757-31607149	HUVEC	blood vessel:	n/a	n/a
45	FOS	chr22:31606767-31607576	HUVEC	blood vessel:	n/a	chr22:31607184-31607193
46	SIN3AK20	chr22:31606827-31607131	HepG2	liver:	n/a	n/a
47	HNF4G	chr22:31606833-31607295	HepG2	liver:	n/a	chr22:31607073-31607085 chr22:31607072-31607086 chr22:31607072-31607087 chr22:31607073-31607085 chr22:31607073-31607085

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31603379..31605401-chr22:31605552..31607393,2	K562	blood:

Variant related genes	Relation type
LIMK2	TF binding region
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11913573	1.00[ASN][1000 genomes]
rs11913621	1.00[ASN][1000 genomes]
rs35351984	1.00[ASN][1000 genomes]
rs35923988	1.00[ASN][1000 genomes]
rs5997930	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286320	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7291131	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292627	1.00[ASN][1000 genomes]
rs740229	1.00[ASN][1000 genomes]
rs757871	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
2	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:31576000-31607800	Weak transcription	A549	lung
4	chr22:31579200-31607400	Weak transcription	K562	blood
5	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31596600-31607600	Weak transcription	Fetal Kidney	kidney
13	chr22:31598400-31607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:31598400-31607600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:31598400-31607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31598600-31607800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:31598800-31607600	Weak transcription	Pancreas	Pancrea
18	chr22:31599600-31607400	Weak transcription	Brain Angular Gyrus	brain
19	chr22:31599600-31607400	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:31599600-31607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31599600-31607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:31599600-31607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31599600-31607600	Weak transcription	NH-A	brain
24	chr22:31599600-31607800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:31599800-31607800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:31600000-31607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:31600000-31607800	Weak transcription	Ovary	ovary
28	chr22:31600800-31607000	Weak transcription	Dnd41	blood
29	chr22:31601400-31607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:31601600-31607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:31601800-31607600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31601800-31607600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:31601800-31607600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:31602000-31607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:31602000-31607800	Weak transcription	Brain Germinal Matrix	brain
36	chr22:31602200-31607000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:31602200-31607600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:31602200-31607600	Weak transcription	Osteobl	bone
39	chr22:31602600-31607400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:31603000-31607000	Weak transcription	NHLF	lung
41	chr22:31603200-31607200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:31603200-31607600	Weak transcription	Esophagus	oesophagus
43	chr22:31603200-31607600	Weak transcription	Right Ventricle	heart
44	chr22:31603400-31607400	Weak transcription	Fetal Lung	lung
45	chr22:31603400-31607600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:31603400-31607600	Weak transcription	Brain Anterior Caudate	brain
47	chr22:31603600-31607200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr22:31603600-31607400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:31603600-31607600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:31603600-31607600	Weak transcription	Brain Substantia Nigra	brain

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