Variant report

Variant	rs742803
Chromosome Location	chr20:24610891-24610892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24610034..24611986-chr20:24615289..24617855,2	MCF-7	breast:
2	chr20:24610820..24613195-chr8:23266116..23269029,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs16986777	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16986779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813525	0.85[JPT][hapmap]
rs4815280	0.86[JPT][hapmap]
rs4815281	0.86[JPT][hapmap]
rs4815283	0.86[JPT][hapmap]
rs6036845	0.80[AMR][1000 genomes]
rs6036846	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6036850	0.85[JPT][hapmap]
rs6049796	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes]
rs6049798	0.86[JPT][hapmap]
rs6049801	0.83[AMR][1000 genomes]
rs6049803	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs6049804	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs6049809	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs6049811	1.00[JPT][hapmap]
rs6106914	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6106915	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6114791	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs6114802	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62215312	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62215323	0.86[EUR][1000 genomes]
rs7268328	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs742803	ACSS1	cis	parietal	SCAN
rs742803	NKX2-2	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24584400-24612600	Weak transcription	Aorta	Aorta
2	chr20:24607800-24611600	Enhancers	Brain Substantia Nigra	brain
3	chr20:24608400-24611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:24608400-24611000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr20:24608400-24611400	Enhancers	Fetal Heart	heart
6	chr20:24608400-24613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:24608600-24611400	Enhancers	Fetal Thymus	thymus
8	chr20:24608600-24615000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr20:24608800-24611000	Enhancers	Primary hematopoietic stem cells	blood
10	chr20:24608800-24611000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr20:24608800-24616800	Enhancers	Brain Hippocampus Middle	brain
12	chr20:24609200-24615200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr20:24609600-24612200	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:24610400-24611400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:24610400-24611400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:24610400-24613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:24610400-24613800	Weak transcription	Brain Anterior Caudate	brain
18	chr20:24610400-24615600	Weak transcription	Right Atrium	heart
19	chr20:24610600-24613200	Weak transcription	Fetal Muscle Leg	muscle
20	chr20:24610600-24613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:24610600-24613800	Weak transcription	Gastric	stomach
22	chr20:24610600-24613800	Weak transcription	Left Ventricle	heart
23	chr20:24610600-24613800	Weak transcription	Lung	lung
24	chr20:24610600-24615000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:24610600-24615600	Weak transcription	Right Ventricle	heart
26	chr20:24610800-24612400	Weak transcription	Brain Angular Gyrus	brain
27	chr20:24610800-24615600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr20:24610800-24615600	Weak transcription	Thymus	Thymus

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