Variant report

Variant	rs4820020
Chromosome Location	chr22:31006004-31006005
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	MTA3	chr22:31004785-31006048	GM12878	blood:	n/a	n/a
2	MAX	chr22:31005365-31006066	A549	lung:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
3	EBF1	chr22:31005259-31006129	GM12878	blood:	n/a	chr22:31005924-31005934 chr22:31005923-31005936 chr22:31005925-31005934
4	MAX	chr22:31005247-31006234	K562	blood:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
5	JUN	chr22:31005207-31006264	K562	blood:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31005486..31007786-chr22:31009641..31011900,2	MCF-7	breast:
2	chr22:31005874..31007539-chr22:31009444..31010957,2	MCF-7	breast:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000185339	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12157809	1.00[ASN][1000 genomes]
rs12160098	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433576	1.00[ASN][1000 genomes]
rs16988925	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16988927	1.00[ASN][1000 genomes]
rs2078975	1.00[CHD][hapmap]
rs2079432	1.00[ASN][1000 genomes]
rs35915865	1.00[ASN][1000 genomes]
rs4820867	1.00[ASN][1000 genomes]
rs4820880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820889	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993542	1.00[ASN][1000 genomes]
rs56076607	1.00[ASN][1000 genomes]
rs5997702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997707	1.00[EUR][1000 genomes]
rs5997712	1.00[ASN][1000 genomes]
rs60387370	1.00[ASN][1000 genomes]
rs72550763	1.00[ASN][1000 genomes]
rs734479	1.00[CHD][hapmap]
rs73881483	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr22:31002000-31007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31003200-31007000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
5	chr22:31003400-31006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:31003400-31006600	Enhancers	Fetal Thymus	thymus
7	chr22:31003400-31007000	Enhancers	Spleen	Spleen
8	chr22:31003600-31006200	Enhancers	Fetal Muscle Trunk	muscle
9	chr22:31003600-31006400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:31003600-31006400	Enhancers	NHDF-Ad	bronchial
11	chr22:31003600-31006600	Enhancers	Fetal Muscle Leg	muscle
12	chr22:31003800-31006200	Enhancers	Fetal Intestine Large	intestine
13	chr22:31003800-31006400	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:31003800-31007600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:31003800-31009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
17	chr22:31004000-31006400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr22:31004200-31006200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:31004200-31006200	Weak transcription	Fetal Stomach	stomach
20	chr22:31004200-31006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31004200-31006600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:31004200-31006600	Enhancers	Left Ventricle	heart
23	chr22:31004200-31013400	Weak transcription	Pancreas	Pancrea
24	chr22:31004400-31006400	Weak transcription	Fetal Brain Male	brain
25	chr22:31004400-31006600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:31004400-31006800	Enhancers	Placenta	Placenta
27	chr22:31004400-31007000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:31004400-31007000	Weak transcription	Brain Substantia Nigra	brain
29	chr22:31004400-31008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr22:31004400-31008600	Weak transcription	Fetal Brain Female	brain
31	chr22:31004400-31009800	Weak transcription	Fetal Lung	lung
32	chr22:31004400-31020200	Weak transcription	Fetal Kidney	kidney
33	chr22:31004600-31009800	Weak transcription	Brain Anterior Caudate	brain
34	chr22:31004800-31006200	Enhancers	Brain Cingulate Gyrus	brain
35	chr22:31004800-31006200	Enhancers	Hela-S3	cervix
36	chr22:31005000-31006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:31005000-31006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:31005000-31006400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr22:31005000-31006600	Weak transcription	Lung	lung
40	chr22:31005000-31008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:31005200-31006200	Weak transcription	Brain Germinal Matrix	brain
43	chr22:31005200-31006200	Enhancers	Ovary	ovary
44	chr22:31005200-31006400	Enhancers	Right Atrium	heart
45	chr22:31005400-31006600	Enhancers	Duodenum Mucosa	Duodenum
46	chr22:31005400-31009800	Weak transcription	Gastric	stomach
47	chr22:31005600-31006200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr22:31005600-31006400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
49	chr22:31005600-31006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:31005600-31006400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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