Variant report

Variant	rs73105361
Chromosome Location	chr5:60599110-60599111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60586340..60593423-chr5:60595007..60600646,11	MCF-7	breast:
2	chr5:60596613..60601643-chr5:60625817..60629986,6	MCF-7	breast:
3	chr5:60456737..60461436-chr5:60596585..60603587,8	MCF-7	breast:
4	chr5:60595162..60604481-chr5:60621758..60631019,20	MCF-7	breast:
5	chr5:60457408..60460091-chr5:60596786..60599332,3	MCF-7	breast:
6	chr5:60595107..60599156-chr5:60625279..60628331,4	K562	blood:
7	chr5:60596572..60599250-chr5:60605731..60609279,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044518	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10044575	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12188621	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188882	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28685817	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256302	1.00[ASN][1000 genomes]
rs4382119	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452517	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59628996	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105363	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60594000-60602400	Enhancers	NHDF-Ad	bronchial
2	chr5:60594000-60602800	Enhancers	HMEC	breast
3	chr5:60594400-60599200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:60595000-60599600	Weak transcription	Fetal Thymus	thymus
5	chr5:60596800-60601800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60597000-60599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:60597000-60599600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60597000-60605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:60597200-60599200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:60597200-60599200	Enhancers	Colon Smooth Muscle	Colon
11	chr5:60597200-60599200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:60597200-60599800	Enhancers	Adipose Nuclei	Adipose
13	chr5:60597200-60599800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:60597600-60599600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:60597600-60599800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:60597800-60600400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:60598000-60599200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:60598000-60599800	Flanking Active TSS	A549	lung
19	chr5:60598000-60599800	Flanking Active TSS	Osteobl	bone
20	chr5:60598000-60600000	Flanking Active TSS	NHLF	lung
21	chr5:60598000-60600400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:60598000-60600400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:60598000-60600600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:60598000-60600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:60598000-60601200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:60598200-60599200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:60598200-60599600	Weak transcription	Left Ventricle	heart
28	chr5:60598200-60600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:60598200-60600200	Weak transcription	Right Atrium	heart
30	chr5:60598200-60600400	Weak transcription	Pancreas	Pancrea
31	chr5:60598200-60600400	Weak transcription	Right Ventricle	heart
32	chr5:60598200-60600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:60598200-60601000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:60598200-60606600	Weak transcription	Lung	lung
35	chr5:60598400-60599400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:60598400-60599600	Enhancers	NHEK	skin
37	chr5:60598400-60600200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:60598400-60600200	Enhancers	Hela-S3	cervix
39	chr5:60598400-60600400	Weak transcription	Colonic Mucosa	Colon
40	chr5:60598400-60600400	Weak transcription	HUVEC	blood vessel
41	chr5:60598600-60600400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:60598600-60600400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:60598600-60600600	Weak transcription	Brain Substantia Nigra	brain
44	chr5:60598600-60601400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:60598600-60601600	Enhancers	HepG2	liver
46	chr5:60598600-60602200	Weak transcription	Esophagus	oesophagus
47	chr5:60598800-60599200	Enhancers	Fetal Lung	lung
48	chr5:60598800-60599200	Enhancers	Ovary	ovary
49	chr5:60598800-60599800	Weak transcription	Fetal Intestine Small	intestine
50	chr5:60598800-60600000	Weak transcription	Stomach Mucosa	stomach

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