Variant report

Variant	rs11801652
Chromosome Location	chr1:185957298-185957299
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	chr1:185953008..185955128-chr1:185955771..185958221,2	K562	blood:
2	chr1:185945894..185947669-chr1:185956221..185957742,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11799929	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11800249	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11800686	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11801342	0.84[LWK][hapmap]
rs11801883	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11803015	0.80[YRI][hapmap]
rs11809362	0.92[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811425	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16824844	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1884663	0.91[YRI][hapmap]
rs2383270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2383429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34460141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35576281	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4548394	0.89[YRI][hapmap]
rs55653538	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55679110	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55861690	0.83[AMR][1000 genomes]
rs55869520	1.00[AMR][1000 genomes]
rs55888716	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57060687	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58608875	0.85[AFR][1000 genomes]
rs60150013	0.83[AMR][1000 genomes]
rs60600910	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61110502	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61191597	0.83[AMR][1000 genomes]
rs61338512	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134234	0.83[AMR][1000 genomes]
rs74134235	0.83[AMR][1000 genomes]
rs74134240	0.83[AMR][1000 genomes]
rs74134242	1.00[AMR][1000 genomes]
rs74134245	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134246	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134247	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134248	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134249	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134251	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134252	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134253	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134254	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134255	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134256	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134257	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134258	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74134269	1.00[AMR][1000 genomes]
rs74134273	1.00[AMR][1000 genomes]
rs74134280	0.85[AFR][1000 genomes]
rs74134282	0.85[AFR][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:25 , 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	chr1:185954000-185959400	Weak transcription	Fetal Lung	lung
12	chr1:185954000-185959800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185954000-185961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:185954000-185965200	Weak transcription	NHDF-Ad	bronchial
15	chr1:185954400-185964800	Weak transcription	Fetal Kidney	kidney
16	chr1:185954600-185965400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:185956400-185957400	Enhancers	Primary B cells from cord blood	blood
18	chr1:185956400-185959600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:185956600-185957800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:185956600-185957800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:185956600-185958000	Enhancers	Primary T cells from cord blood	blood
22	chr1:185956800-185957400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:185957000-185957600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:185957000-185957600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:185957200-185957600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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