Variant report

Variant	rs7538194
Chromosome Location	chr1:210592935-210592936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210583255..210586128-chr1:210592478..210594714,2	MCF-7	breast:
2	chr1:210545312..210548912-chr1:210591590..210593685,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10863829	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11119486	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11119489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119491	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119492	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11119497	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12043880	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117930	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12136541	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12738703	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs2092448	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2357587	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357588	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3753226	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4400614	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4601592	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4845019	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845021	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845023	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845024	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4845025	0.81[AFR][1000 genomes]
rs57153723	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682398	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7518269	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8179439	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs926579	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];0.93[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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
2	chr1:210570200-210594000	Weak transcription	Fetal Lung	lung
3	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:210573800-210594400	Weak transcription	Spleen	Spleen
5	chr1:210574400-210594400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:210574400-210595200	Weak transcription	Right Ventricle	heart
7	chr1:210585200-210593600	Weak transcription	Fetal Stomach	stomach
8	chr1:210586400-210610800	Weak transcription	Aorta	Aorta
9	chr1:210592000-210593000	Enhancers	HSMMtube	muscle
10	chr1:210592000-210609400	Weak transcription	Ovary	ovary
11	chr1:210592200-210593000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210592200-210593000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:210592200-210593000	Enhancers	A549	lung
14	chr1:210592400-210593000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210592400-210593000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr1:210592400-210593400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:210592400-210593400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:210592400-210593600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210592400-210593600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:210592600-210593000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:210592600-210593400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:210592800-210593000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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