Variant report

Variant	rs5998232
Chromosome Location	chr22:32475360-32475361
allele	C/T
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	FOS	chr22:32475121-32475468	MCF10A-Er-Src	breast:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
2	MYC	chr22:32475070-32475450	MCF10A-Er-Src	breast:	n/a	chr22:32475304-32475313 chr22:32475305-32475314
3	TEAD4	chr22:32475007-32475486	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr22:32475132-32475521	MCF10A-Er-Src	breast:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
5	TCF12	chr22:32474958-32475518	A549	lung:	n/a	n/a
6	SMC3	chr22:32475166-32475450	Hela-S3	cervix:	n/a	n/a
7	JUN	chr22:32475152-32475474	H1-hESC	embryonic stem cell:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
8	TEAD4	chr22:32475142-32475400	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOSL2	chr22:32475006-32475615	A549	lung:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
10	FOS	chr22:32475113-32475461	HUVEC	blood vessel:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
11	FOSL2	chr22:32475179-32475412	MCF-7	breast:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
12	FOSL2	chr22:32475132-32475433	A549	lung:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
13	JUND	chr22:32475123-32475605	Hela-S3	cervix:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
14	FOS	chr22:32475100-32475520	MCF10A-Er-Src	breast:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
15	SP1	chr22:32475091-32475481	A549	lung:	n/a	n/a
16	RAD21	chr22:32475181-32475438	Hela-S3	cervix:	n/a	n/a
17	FOSL2	chr22:32475007-32475548	SK-N-SH	brain:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
18	FOSL1	chr22:32475030-32475628	HCT-116	colon:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
19	JUND	chr22:32474935-32475705	SK-N-SH	brain:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
20	CBX3	chr22:32475000-32475513	HCT-116	colon:	n/a	n/a
21	JUND	chr22:32475092-32475487	SK-N-SH	brain:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
22	FOS	chr22:32475138-32475496	MCF10A-Er-Src	breast:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
23	JUND	chr22:32475118-32475477	H1-hESC	embryonic stem cell:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
24	TEAD4	chr22:32475117-32475374	ECC-1	luminal epithelium:	n/a	n/a
25	KAP1	chr22:32475141-32475612	U2OS	brain:	n/a	n/a
26	TEAD4	chr22:32475139-32475576	A549	lung:	n/a	n/a
27	JUND	chr22:32475147-32475458	HepG2	liver:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312
28	JUND	chr22:32475050-32475629	HCT-116	colon:	n/a	chr22:32475306-32475317 chr22:32475304-32475313 chr22:32475303-32475314 chr22:32475308-32475315 chr22:32475303-32475315 chr22:32475305-32475313 chr22:32475305-32475312

No.	Distal block	Cell Line	Cell type
1	22:32162110-32166713..22:32475239-32477762	Hela-S3	cervix:
2	22:32475239-32477762..22:32860159-32865649	GM12878	blood:
3	22:32338420-32342898..22:32475239-32477762	Hela-S3	cervix:
4	22:32475239-32477762..22:32764253-32784733	Hela-S3	cervix:
5	22:32170492-32188129..22:32475239-32477762	Hela-S3	cervix:
6	22:32264718-32278135..22:32475239-32477762	Hela-S3	cervix:
7	22:32053085-32061138..22:32475239-32477762	GM12878	blood:
8	22:32475239-32477762..22:33452523-33459358	GM12878	blood:
9	22:31836635-31847259..22:32475239-32477762	Hela-S3	cervix:
10	22:32102727-32109893..22:32475239-32477762	Hela-S3	cervix:
11	22:32475239-32477762..22:32920308-32927723	Hela-S3	cervix:
12	22:32475239-32477762..22:32750950-32761732	Hela-S3	cervix:

Variant related genes	Relation type
SLC5A1	TF binding region
ENSG00000128254	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12159803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58801944	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994462	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994463	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998206	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998221	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998222	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998225	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998228	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998231	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998240	1.00[EUR][1000 genomes]
rs5998241	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7291826	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32460400-32476000	Weak transcription	Pancreas	Pancrea
2	chr22:32468400-32476600	Enhancers	Fetal Intestine Large	intestine
3	chr22:32469400-32489800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:32469600-32478200	Genic enhancers	Fetal Intestine Small	intestine
5	chr22:32472600-32479200	Weak transcription	Right Ventricle	heart
6	chr22:32472800-32476400	Enhancers	Fetal Heart	heart
7	chr22:32473000-32475400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:32473000-32475600	Weak transcription	Small Intestine	intestine
9	chr22:32473000-32475800	Weak transcription	Right Atrium	heart
10	chr22:32473000-32476000	Weak transcription	Left Ventricle	heart
11	chr22:32473400-32495000	Weak transcription	Colonic Mucosa	Colon
12	chr22:32473600-32495600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:32474600-32475400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:32474600-32476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:32474600-32476600	Enhancers	Liver	Liver
16	chr22:32474800-32475600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:32474800-32475800	Enhancers	NHEK	skin
18	chr22:32474800-32476200	Enhancers	Stomach Mucosa	stomach
19	chr22:32475000-32475400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:32475000-32475600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:32475000-32475600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:32475000-32475600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:32475000-32475600	Enhancers	Osteobl	bone
24	chr22:32475000-32475800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:32475000-32475800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr22:32475000-32475800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:32475000-32475800	Enhancers	HMEC	breast
28	chr22:32475000-32475800	Enhancers	HSMMtube	muscle
29	chr22:32475000-32476000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:32475000-32476000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:32475000-32476000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:32475000-32476000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:32475000-32476000	Enhancers	Adipose Nuclei	Adipose
34	chr22:32475000-32476000	Flanking Active TSS	A549	lung
35	chr22:32475000-32476200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr22:32475000-32476200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:32475000-32476400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:32475200-32475800	Enhancers	Fetal Muscle Leg	muscle
39	chr22:32475200-32475800	Enhancers	Skeletal Muscle Female	skeletal muscle

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