Variant report

Variant	rs10911591
Chromosome Location	chr1:184352254-184352255
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	chr1:184348421..184352484-chr1:184354779..184358416,5	MCF-7	breast:
2	chr1:184347794..184350297-chr1:184351548..184353524,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction
ENSG00000116667	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10494580	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10737252	0.89[ASN][1000 genomes]
rs10752935	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10752936	0.90[ASN][1000 genomes]
rs10752937	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10911588	0.98[EUR][1000 genomes]
rs10911589	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10911590	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10911592	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10911594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12029316	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12063636	0.82[ASN][1000 genomes]
rs12085285	0.82[ASN][1000 genomes]
rs12088034	0.82[ASN][1000 genomes]
rs12117332	0.82[ASN][1000 genomes]
rs16823101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1884201	0.82[ASN][1000 genomes]
rs1884202	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1884203	0.82[ASN][1000 genomes]
rs2207523	0.82[ASN][1000 genomes]
rs3924652	0.99[EUR][1000 genomes]
rs4326589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4382681	0.99[EUR][1000 genomes]
rs4384189	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4391631	0.99[EUR][1000 genomes]
rs4397626	0.99[EUR][1000 genomes]
rs4478778	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4512607	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4631655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4991700	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4991703	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57073878	0.82[ASN][1000 genomes]
rs6424950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6655949	0.93[EUR][1000 genomes]
rs6660217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6675430	0.91[EUR][1000 genomes]
rs6678278	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs6683726	0.97[EUR][1000 genomes]
rs6688074	0.82[ASN][1000 genomes]
rs6692317	0.89[ASN][1000 genomes]
rs6696270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6700709	0.82[ASN][1000 genomes]
rs732959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7367466	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7415961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7512266	0.82[ASN][1000 genomes]
rs7518756	0.99[EUR][1000 genomes]
rs7538587	0.82[ASN][1000 genomes]
rs7542925	0.98[EUR][1000 genomes]
rs7545368	0.99[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184337400-184355000	Weak transcription	Psoas Muscle	Psoas
2	chr1:184346000-184355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:184346200-184355000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:184348400-184355000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:184348800-184355000	Weak transcription	Fetal Heart	heart
6	chr1:184348800-184355000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:184349000-184355000	Weak transcription	NHLF	lung
8	chr1:184350400-184355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184350400-184355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:184350600-184352800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:184350600-184354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:184350600-184355000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:184351800-184353000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:184351800-184353800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr1:184351800-184354000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:184351800-184354600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:184351800-184354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:184352000-184354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:184352200-184352400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:184352200-184352800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:184352200-184354400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:184352200-184355000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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