Variant report

Variant	rs58926604
Chromosome Location	chr2:86183592-86183593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86112745..86122516-chr2:86175080..86185190,27	MCF-7	breast:
2	chr2:86170585..86172715-chr2:86181758..86183932,2	MCF-7	breast:
3	chr2:86181209..86184209-chr2:86184954..86187247,3	K562	blood:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11894806	1.00[AMR][1000 genomes]
rs34853189	1.00[AMR][1000 genomes]
rs56861544	0.83[ASN][1000 genomes]
rs57318396	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57963460	0.83[ASN][1000 genomes]
rs58429119	0.98[ASN][1000 genomes]
rs58468324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59598725	1.00[AMR][1000 genomes]
rs60336356	0.82[ASN][1000 genomes]
rs60471596	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60497765	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61094144	0.82[ASN][1000 genomes]
rs61199255	0.83[ASN][1000 genomes]
rs61371265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547652	1.00[AMR][1000 genomes]
rs6759624	1.00[AMR][1000 genomes]
rs6760097	1.00[AMR][1000 genomes]
rs6760112	1.00[AMR][1000 genomes];0.98[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86175000-86183600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:86178800-86188200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86179200-86183600	Enhancers	Pancreas	Pancrea
4	chr2:86179200-86183800	Enhancers	Stomach Mucosa	stomach
5	chr2:86180200-86187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86180600-86184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:86180800-86184000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:86180800-86184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:86180800-86188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:86181000-86183600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:86181000-86183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:86181000-86186600	Weak transcription	K562	blood
13	chr2:86181800-86184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:86181800-86186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:86182400-86184400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:86182600-86187600	Weak transcription	Esophagus	oesophagus
17	chr2:86183000-86184200	Enhancers	HMEC	breast
18	chr2:86183000-86184400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:86183000-86184600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:86183000-86184600	Enhancers	HSMM	muscle
21	chr2:86183000-86184800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:86183200-86184400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:86183200-86184600	Enhancers	HSMMtube	muscle
24	chr2:86183400-86183600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:86183400-86184000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:86183400-86184000	Flanking Active TSS	NHEK	skin
27	chr2:86183400-86184200	Enhancers	Psoas Muscle	Psoas
28	chr2:86183400-86184600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:86183400-86184600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:86183400-86184800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:86183400-86185000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:86183400-86185200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:86183400-86185800	Weak transcription	A549	lung

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