Variant report

Variant	rs60600243
Chromosome Location	chr8:59492731-59492732
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59488700..59491214-chr8:59491356..59492898,2	K562	blood:
2	chr8:59492385..59492924-chr8:59613980..59614521,2	K562	blood:
3	chr8:59465818..59467351-chr8:59492193..59494904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16923547	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16923573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57119091	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57137362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58276148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58586560	0.97[ASN][1000 genomes]
rs59644857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60163136	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7833413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv397168	chr8:59488993-59497876	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59493200	Weak transcription	Fetal Heart	heart
4	chr8:59473000-59493400	Weak transcription	Esophagus	oesophagus
5	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
6	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:59473200-59493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:59476800-59495400	Weak transcription	Pancreas	Pancrea
13	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
17	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:59477600-59493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:59477600-59496800	Strong transcription	Placenta	Placenta
20	chr8:59477600-59500600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:59477600-59503600	Strong transcription	Osteobl	bone
22	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:59478000-59497000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:59478000-59500400	Strong transcription	NH-A	brain
26	chr8:59478000-59500800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:59478000-59502800	Strong transcription	Fetal Thymus	thymus
28	chr8:59478000-59503000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr8:59478000-59503200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
34	chr8:59479000-59503800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:59479200-59499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:59479600-59500600	Strong transcription	HUVEC	blood vessel
38	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:59480400-59503000	Strong transcription	Adipose Nuclei	Adipose
40	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:59481200-59498000	Weak transcription	Brain Substantia Nigra	brain
42	chr8:59481400-59502000	Weak transcription	Fetal Brain Male	brain
43	chr8:59482000-59493400	Weak transcription	Right Ventricle	heart
44	chr8:59483000-59504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:59483400-59501000	Strong transcription	Primary B cells from cord blood	blood
47	chr8:59483800-59500600	Strong transcription	Liver	Liver
48	chr8:59483800-59500600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:59483800-59504400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr8:59483800-59528000	Strong transcription	Dnd41	blood

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