Variant report

Variant	rs60504120
Chromosome Location	chr8:59553427-59553428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59553289..59555629-chr8:59558700..59560806,2	K562	blood:
2	chr8:59496245..59498176-chr8:59553071..59554648,2	K562	blood:
3	chr8:59464786..59466461-chr8:59553066..59555497,2	K562	blood:
4	chr8:59472892..59474558-chr8:59553037..59555731,2	K562	blood:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10086130	1.00[EUR][1000 genomes]
rs10093782	1.00[EUR][1000 genomes]
rs10098355	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10099231	0.93[ASN][1000 genomes]
rs16923631	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2228505	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2279459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28548238	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816847	1.00[EUR][1000 genomes]
rs4737505	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4738695	1.00[EUR][1000 genomes]
rs58627447	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58866790	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60289621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60780937	0.94[AMR][1000 genomes];1.00[EUR][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	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	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:119 , 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	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
6	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:59520600-59554600	Weak transcription	HMEC	breast
8	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:59524200-59554400	Weak transcription	NHEK	skin
10	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
13	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
14	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
16	chr8:59541400-59555200	Strong transcription	Dnd41	blood
17	chr8:59541600-59559400	Weak transcription	HepG2	liver
18	chr8:59542400-59555400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:59542600-59554200	Weak transcription	NHLF	lung
20	chr8:59542800-59554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
22	chr8:59543000-59555800	Weak transcription	Psoas Muscle	Psoas
23	chr8:59543200-59554200	Weak transcription	NH-A	brain
24	chr8:59543200-59555800	Weak transcription	Ovary	ovary
25	chr8:59543200-59555800	Weak transcription	Pancreas	Pancrea
26	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:59543200-59559600	Weak transcription	Lung	lung
28	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
31	chr8:59543400-59555400	Weak transcription	HSMMtube	muscle
32	chr8:59543400-59557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
36	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
37	chr8:59543600-59554000	Weak transcription	Hela-S3	cervix
38	chr8:59543600-59555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:59543600-59557800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:59545400-59556000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:59545600-59554400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:59545800-59555200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:59545800-59559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:59546000-59554200	Weak transcription	Brain Germinal Matrix	brain
46	chr8:59546000-59558000	Weak transcription	Spleen	Spleen
47	chr8:59546000-59559600	Weak transcription	Gastric	stomach
48	chr8:59546000-59560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:59546000-59561200	Weak transcription	Esophagus	oesophagus
50	chr8:59546200-59554200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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