Variant report

Variant	rs11161572
Chromosome Location	chr1:85722829-85722830
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85574576..85576884-chr1:85720562..85722969,3	K562	blood:
2	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
3	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11161557	0.83[JPT][hapmap]
rs11161560	0.84[JPT][hapmap]
rs11161563	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11161569	1.00[ASN][1000 genomes]
rs11370	1.00[ASN][1000 genomes]
rs12025860	0.83[ASN][1000 genomes]
rs12025898	0.86[ASN][1000 genomes]
rs12036224	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs12037869	0.83[JPT][hapmap]
rs12039980	0.84[ASN][1000 genomes]
rs12133263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12143319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2185485	0.82[JPT][hapmap]
rs2735595	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3768234	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768235	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55806921	0.83[EUR][1000 genomes]
rs6700749	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9433250	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
2	chr1:85707800-85724400	Weak transcription	Lung	lung
3	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
4	chr1:85710400-85724000	Weak transcription	Ovary	ovary
5	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
6	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:85711600-85723800	Weak transcription	HSMMtube	muscle
12	chr1:85712000-85723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:85712000-85723000	Weak transcription	NHLF	lung
14	chr1:85712200-85724000	Weak transcription	Fetal Stomach	stomach
15	chr1:85713200-85724000	Weak transcription	Thymus	Thymus
16	chr1:85714600-85724200	Weak transcription	Gastric	stomach
17	chr1:85714800-85723400	Weak transcription	Fetal Brain Male	brain
18	chr1:85715000-85724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:85715200-85724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:85715800-85723000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:85715800-85723000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:85716000-85723400	Weak transcription	Spleen	Spleen
23	chr1:85716200-85723200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:85716200-85723600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:85716200-85723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:85716400-85723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:85716600-85723600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:85716800-85723000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:85716800-85723400	Strong transcription	Fetal Thymus	thymus
30	chr1:85716800-85723800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:85716800-85723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:85717000-85723400	Strong transcription	NHDF-Ad	bronchial
33	chr1:85717000-85723800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:85717600-85723400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:85717800-85723000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:85717800-85723000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:85717800-85723000	Weak transcription	Left Ventricle	heart
38	chr1:85718200-85724200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:85718400-85724000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:85718600-85723800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:85719000-85724000	Weak transcription	Psoas Muscle	Psoas
42	chr1:85719200-85724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85719200-85724000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:85719600-85724200	Weak transcription	Esophagus	oesophagus
45	chr1:85719800-85723000	Genic enhancers	Dnd41	blood
46	chr1:85720200-85724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:85720600-85723400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:85721000-85723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:85721200-85723000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:85721200-85723000	Strong transcription	Brain Hippocampus Middle	brain

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