Variant report

Variant	rs58832725
Chromosome Location	chr1:171484162-171484163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171482500..171484395-chr1:171486369..171488857,2	K562	blood:
2	chr1:171480931..171484938-chr1:171487047..171489440,3	MCF-7	breast:
3	chr1:171476248..171479748-chr1:171482542..171484607,3	MCF-7	breast:
4	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction
ENSG00000201126	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35041900	0.84[AFR][1000 genomes]
rs56737295	1.00[EUR][1000 genomes]
rs57057228	1.00[EUR][1000 genomes]
rs57152399	1.00[EUR][1000 genomes]
rs57268639	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57295197	1.00[EUR][1000 genomes]
rs57732262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58804054	1.00[EUR][1000 genomes]
rs59025168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59135694	1.00[EUR][1000 genomes]
rs59660141	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59907184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60166114	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61149631	1.00[EUR][1000 genomes]
rs61416201	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038352	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038398	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040395	1.00[EUR][1000 genomes]
rs7534198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540339	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171470600-171491600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:171471400-171485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171473200-171486400	Weak transcription	Pancreas	Pancrea
4	chr1:171475400-171486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:171475800-171484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:171475800-171486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:171476000-171498800	Weak transcription	Fetal Heart	heart
9	chr1:171476200-171486600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:171476600-171489000	Weak transcription	Right Ventricle	heart
11	chr1:171477400-171486600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171477600-171486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:171478400-171485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:171478800-171497800	Weak transcription	Stomach Mucosa	stomach
15	chr1:171479000-171485800	Weak transcription	Small Intestine	intestine
16	chr1:171480000-171485800	Weak transcription	Ovary	ovary
17	chr1:171480200-171484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:171480600-171486400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:171481200-171492800	Strong transcription	Primary B cells from cord blood	blood
21	chr1:171481200-171495600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:171481200-171519600	Strong transcription	Dnd41	blood
25	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:171481400-171489000	Strong transcription	HSMM	muscle
28	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:171481600-171487200	Strong transcription	NHEK	skin
33	chr1:171481600-171494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:171481800-171495000	Strong transcription	HUVEC	blood vessel
37	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
39	chr1:171482000-171495600	Strong transcription	HMEC	breast
40	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:171482200-171486400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:171482200-171487200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:171482200-171488600	Strong transcription	Brain Anterior Caudate	brain
50	chr1:171482200-171489000	Strong transcription	K562	blood

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