Variant report

Variant	rs17352829
Chromosome Location	chr1:228889664-228889665
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	chr1:228888907..228890779-chr1:228926472..228928455,2	MCF-7	breast:
2	chr1:228889546..228891399-chr1:228891656..228894623,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1062060	0.93[ASN][1000 genomes]
rs11578216	0.93[ASN][1000 genomes]
rs11580020	0.93[ASN][1000 genomes]
rs11583565	0.93[ASN][1000 genomes]
rs17352654	0.93[ASN][1000 genomes]
rs3738073	0.89[ASN][1000 genomes]
rs41270187	0.81[ASN][1000 genomes]
rs41270189	0.93[ASN][1000 genomes]
rs41271473	0.81[ASN][1000 genomes]
rs4391638	0.93[ASN][1000 genomes]
rs4641285	0.93[ASN][1000 genomes]
rs4993975	0.93[ASN][1000 genomes]
rs55730631	0.89[ASN][1000 genomes]
rs55956922	0.93[ASN][1000 genomes]
rs56221905	0.89[ASN][1000 genomes]
rs61825705	0.86[ASN][1000 genomes]
rs6665334	0.89[ASN][1000 genomes]
rs72751907	0.89[ASN][1000 genomes]
rs72751929	0.93[ASN][1000 genomes]
rs72751931	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72751961	0.81[AMR][1000 genomes]
rs72754025	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228880600-228890400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:228883000-228893600	Weak transcription	Liver	Liver
3	chr1:228887400-228891000	Weak transcription	Fetal Thymus	thymus
4	chr1:228887600-228889800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:228889200-228889800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
6	chr1:228889200-228890000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:228889200-228890200	Enhancers	Brain Angular Gyrus	brain
8	chr1:228889200-228890200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:228889200-228890400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:228889200-228890600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:228889200-228890600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:228889400-228889800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:228889400-228889800	Bivalent Enhancer	Fetal Kidney	kidney
14	chr1:228889400-228889800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr1:228889400-228890000	Enhancers	Brain Substantia Nigra	brain
16	chr1:228889400-228890000	Enhancers	Fetal Stomach	stomach
17	chr1:228889400-228890200	Enhancers	Brain Anterior Caudate	brain
18	chr1:228889400-228890600	Enhancers	Fetal Lung	lung
19	chr1:228889600-228889800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:228889600-228889800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:228889600-228889800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:228889600-228889800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:228889600-228889800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:228889600-228890000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:228889600-228890000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:228889600-228890000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:228889600-228890000	Enhancers	Adipose Nuclei	Adipose
28	chr1:228889600-228890000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:228889600-228890200	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:228889600-228890400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:228889600-228890600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:228889600-228890600	Enhancers	Colon Smooth Muscle	Colon

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