Variant report

Variant	rs11800249
Chromosome Location	chr1:185953934-185953935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185949414..185951404-chr1:185953572..185956046,2	MCF-7	breast:
2	chr1:185953585..185954283-chr1:186121981..186122741,2	MCF-7	breast:
3	chr1:185953008..185955128-chr1:185955771..185958221,2	K562	blood:
4	chr1:185946726..185948361-chr1:185953811..185955466,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11799929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801652	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11801883	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803015	0.80[YRI][hapmap]
rs11809362	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11811425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824844	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1884663	0.91[YRI][hapmap]
rs2383270	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2383429	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2891184	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34460141	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35576281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4548394	0.89[YRI][hapmap]
rs55653538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55679110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55861690	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55869520	0.83[AMR][1000 genomes]
rs55888716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57060687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60150013	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60600910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191597	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61338512	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134233	0.83[AMR][1000 genomes]
rs74134234	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134240	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134242	0.83[AMR][1000 genomes]
rs74134245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134255	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134269	0.83[AMR][1000 genomes]
rs74134273	0.83[AMR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185937000-185964000	Weak transcription	Aorta	Aorta
5	chr1:185938800-185990200	Weak transcription	Liver	Liver
6	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
9	chr1:185939800-185958600	Weak transcription	Left Ventricle	heart
10	chr1:185944200-185959400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:185953200-185954000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:185953200-185954000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185953200-185954000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:185953400-185954000	Enhancers	NHDF-Ad	bronchial
15	chr1:185953400-185954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:185953400-185954600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185953400-185954600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:185953600-185954000	Enhancers	Fetal Lung	lung

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