Variant report

Variant	rs2903459
Chromosome Location	chr7:70599076-70599077
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10234969	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10275799	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950241	0.87[EUR][1000 genomes]
rs10950242	0.82[EUR][1000 genomes]
rs11761326	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669913	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2057941	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057942	0.89[EUR][1000 genomes]
rs2867037	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867038	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903457	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2903458	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324824	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527772	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008001	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460640	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6950440	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955782	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962253	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7783769	0.89[EUR][1000 genomes]
rs7810849	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847723	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847724	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847725	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886739	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3377653	chr7:70596541-70599389	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
5	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
6	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
7	chr7:70596200-70599200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr7:70596800-70599400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:70597600-70599200	Active TSS	Right Ventricle	heart
10	chr7:70597800-70599400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:70598200-70599400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr7:70598600-70599200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr7:70598600-70599200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:70598600-70599400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
16	chr7:70598800-70599200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr7:70598800-70599200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:70598800-70599200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
19	chr7:70598800-70599600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:70598800-70599600	Enhancers	Fetal Heart	heart
21	chr7:70598800-70599800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:70598800-70600200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:70598800-70605000	Weak transcription	Aorta	Aorta
24	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:70599000-70599200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr7:70599000-70599200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:70599000-70599200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:70599000-70599400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:70599000-70599400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr7:70599000-70599400	Active TSS	Ovary	ovary
31	chr7:70599000-70599600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:70599000-70599600	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:70599000-70599600	Bivalent Enhancer	Fetal Brain Male	brain
34	chr7:70599000-70599600	Enhancers	Pancreas	Pancrea
35	chr7:70599000-70599800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:70599000-70600400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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