Variant report

Variant	rs2232173
Chromosome Location	chr22:31536680-31536681
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	TAF1	chr22:31536116-31536788	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYA	chr22:31536446-31536688	K562	blood:	n/a	chr22:31536549-31536563 chr22:31536544-31536562 chr22:31536548-31536563 chr22:31536552-31536564 chr22:31536551-31536561 chr22:31536548-31536563
3	POLR2A	chr22:31536222-31536767	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr22:31536358-31536707	K562	blood:	n/a	chr22:31536452-31536467 chr22:31536549-31536563 chr22:31536548-31536563 chr22:31536552-31536564 chr22:31536551-31536561 chr22:31536548-31536563
5	CHD2	chr22:31536156-31536759	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:31536028-31536841	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT1	chr22:31536436-31537172	Hela-S3	cervix:	n/a	chr22:31536898-31536906 chr22:31536902-31536914 chr22:31536896-31536907
8	RAD21	chr22:31536235-31536694	H1-hESC	embryonic stem cell:	n/a	chr22:31536622-31536635 chr22:31536399-31536412
9	RCOR1	chr22:31535878-31536901	IMR90	lung:	n/a	n/a
10	TCF12	chr22:31536053-31537389	ECC-1	luminal epithelium:	n/a	chr22:31536437-31536447
11	NFIC	chr22:31536005-31537201	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr22:31536206-31536823	ECC-1	luminal epithelium:	n/a	chr22:31536579-31536588 chr22:31536813-31536823
13	TCF12	chr22:31536146-31536816	ECC-1	luminal epithelium:	n/a	chr22:31536437-31536447
14	POLR2A	chr22:31536163-31536878	SK-N-MC	brain:	n/a	n/a
15	RAD21	chr22:31536148-31536700	H1-hESC	embryonic stem cell:	n/a	chr22:31536622-31536635 chr22:31536399-31536412
16	SIN3A	chr22:31536062-31536681	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:31536301-31536698	MCF-7	breast:	n/a	n/a
18	NFYA	chr22:31536474-31536796	Hela-S3	cervix:	n/a	chr22:31536549-31536563 chr22:31536544-31536562 chr22:31536548-31536563 chr22:31536552-31536564 chr22:31536551-31536561 chr22:31536548-31536563
19	USF1	chr22:31536326-31536764	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:31536570-31536757	HUVEC	blood vessel:	n/a	n/a
21	EP300	chr22:31536005-31537285	ECC-1	luminal epithelium:	n/a	chr22:31536905-31536918 chr22:31536440-31536456
22	POLR2A	chr22:31536192-31536862	ECC-1	luminal epithelium:	n/a	n/a
23	BHLHE40	chr22:31536294-31536761	K562	blood:	n/a	n/a
24	SP1	chr22:31536222-31536801	H1-hESC	embryonic stem cell:	n/a	chr22:31536581-31536591 chr22:31536541-31536562 chr22:31536480-31536491
25	MAX	chr22:31536514-31536769	H1-hESC	embryonic stem cell:	n/a	chr22:31536579-31536588
26	POLR2A	chr22:31536161-31536900	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr22:31536146-31536821	ECC-1	luminal epithelium:	n/a	chr22:31536440-31536456
28	CTBP2	chr22:31535865-31536907	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr22:31536259-31536733	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr22:31536039-31537197	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr22:31535708-31537125	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr22:31535922-31536880	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr22:31536274-31536868	ECC-1	luminal epithelium:	n/a	n/a
34	TBP	chr22:31536279-31536747	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF1	chr22:31536358-31536734	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr22:31536248-31536741	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:
2	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
3	chr22:31522240..31525129-chr22:31533508..31536686,3	K562	blood:
4	chr22:31476560..31478859-chr22:31533468..31537086,3	MCF-7	breast:
5	chr22:31522608..31525129-chr22:31534842..31536686,3	K562	blood:

Variant related genes	Relation type
PLA2G3	TF binding region
ENSG00000185133	Chromatin interaction
ENSG00000264141	Chromatin interaction
ENSG00000138942	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2074734	0.97[EUR][1000 genomes]
rs3761430	0.97[EUR][1000 genomes]
rs55888048	0.87[ASN][1000 genomes]
rs55997441	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56136528	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237366	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237437	0.87[ASN][1000 genomes]
rs62237446	0.83[AMR][1000 genomes];0.87[ASN][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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
2	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
3	chr22:31534600-31536800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31535600-31536800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31535800-31536800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr22:31535800-31536800	Enhancers	Fetal Brain Female	brain
7	chr22:31535800-31537000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:31535800-31537000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr22:31536000-31536800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:31536000-31536800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:31536000-31537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:31536000-31537000	Enhancers	Fetal Brain Male	brain
13	chr22:31536000-31537200	Enhancers	Gastric	stomach
14	chr22:31536200-31537000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr22:31536200-31537000	Bivalent Enhancer	NHEK	skin
16	chr22:31536200-31537200	Bivalent Enhancer	Fetal Stomach	stomach
17	chr22:31536200-31538000	Enhancers	Stomach Mucosa	stomach
18	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:31536400-31536800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:31536400-31537000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:31536400-31537000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:31536400-31537000	Enhancers	Fetal Thymus	thymus
23	chr22:31536400-31537200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:31536400-31537200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31536400-31537200	Enhancers	Pancreas	Pancrea
26	chr22:31536400-31537400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr22:31536400-31537800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:31536600-31536800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr22:31536600-31536800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr22:31536600-31536800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr22:31536600-31536800	Enhancers	Brain Hippocampus Middle	brain
32	chr22:31536600-31536800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr22:31536600-31537000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:31536600-31537000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr22:31536600-31537000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:31536600-31537000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:31536600-31537000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:31536600-31537200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr22:31536600-31537200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:31536600-31537200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr22:31536600-31537200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:31536600-31537200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr22:31536600-31537200	Enhancers	Brain Germinal Matrix	brain
44	chr22:31536600-31537400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr22:31536600-31537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:31536600-31538800	Weak transcription	Brain Anterior Caudate	brain
47	chr22:31536600-31538800	Weak transcription	Right Ventricle	heart
48	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
49	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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