Variant report

Variant	rs58088270
Chromosome Location	chr1:225772746-225772747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225766683..225770492-chr1:225772609..225774921,3	MCF-7	breast:
2	chr1:225762925..225765208-chr1:225770606..225772891,3	K562	blood:
3	chr1:225772554..225774967-chr1:225778509..225781013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12564648	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12564687	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12564945	0.85[ASN][1000 genomes]
rs12565399	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12566165	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12567909	0.93[ASN][1000 genomes]
rs12568642	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845030	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16845040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500644	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1771316	0.97[ASN][1000 genomes]
rs1841655	0.92[EUR][1000 genomes]
rs2657568	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840960	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55689260	0.80[ASN][1000 genomes]
rs55899644	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56250189	0.92[EUR][1000 genomes]
rs6665838	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544335	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7548206	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
2	chr1:225745000-225772800	Weak transcription	Fetal Brain Female	brain
3	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:225766400-225780000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:225766400-225783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:225766600-225779600	Weak transcription	NH-A	brain
10	chr1:225767000-225773600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:225768400-225781200	Weak transcription	Right Ventricle	heart
12	chr1:225768600-225787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:225768800-225781000	Weak transcription	HSMM	muscle
14	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
15	chr1:225769000-225774400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:225769000-225783000	Weak transcription	HSMMtube	muscle
17	chr1:225769200-225773600	Weak transcription	Fetal Stomach	stomach
18	chr1:225769200-225773800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:225769200-225775000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:225769200-225779800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:225769200-225783200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:225769400-225779600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:225770000-225773600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:225770000-225773600	Weak transcription	Lung	lung
25	chr1:225770000-225780000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:225770000-225782000	Weak transcription	Right Atrium	heart
27	chr1:225770000-225783200	Weak transcription	Psoas Muscle	Psoas
28	chr1:225770000-225785200	Weak transcription	Left Ventricle	heart
29	chr1:225770000-225787600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:225770200-225779600	Weak transcription	Fetal Lung	lung
31	chr1:225770400-225773800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:225770400-225778200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:225770400-225780000	Weak transcription	Ovary	ovary
34	chr1:225770600-225774000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:225770600-225774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:225770600-225775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:225770600-225776200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:225770600-225776600	Weak transcription	A549	lung
39	chr1:225770600-225777800	Weak transcription	Fetal Heart	heart
40	chr1:225770600-225778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:225770600-225779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:225770600-225779800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:225770800-225775800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:225770800-225776000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:225770800-225781800	Weak transcription	Osteobl	bone
46	chr1:225771000-225779600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:225771000-225784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:225772200-225772800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:225772600-225775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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