Variant report

Variant	rs60176972
Chromosome Location	chr3:42740860-42740861
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:42740860-42741010	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42727541..42729253-chr3:42740076..42742004,2	K562	blood:
2	chr3:42731871..42735577-chr3:42735978..42742052,8	K562	blood:

Variant related genes	Relation type
HHATL	TF binding region
HHATL-AS1	TF binding region
ENSG00000010282	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10461012	0.92[EUR][1000 genomes]
rs10865920	0.88[EUR][1000 genomes]
rs10865921	0.88[EUR][1000 genomes]
rs10865923	0.83[EUR][1000 genomes]
rs11129969	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11129970	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11709054	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11709500	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713172	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11915803	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17074778	0.88[EUR][1000 genomes]
rs17238314	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17238798	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240861	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34110933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884426	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55904344	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59478814	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59713146	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60049195	0.88[EUR][1000 genomes]
rs62246603	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62246606	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250113	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62250114	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442057	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72865716	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9836162	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9837412	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9838388	0.87[EUR][1000 genomes]

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42728000-42742800	Weak transcription	Gastric	stomach
2	chr3:42738400-42741200	Weak transcription	Brain Anterior Caudate	brain
3	chr3:42738800-42743600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr3:42739200-42751800	Weak transcription	Pancreas	Pancrea
5	chr3:42739400-42741200	Weak transcription	Fetal Heart	heart
6	chr3:42739800-42741200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:42739800-42741200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:42740000-42741800	Enhancers	Lung	lung
9	chr3:42740200-42741000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr3:42740200-42741000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr3:42740200-42741200	Enhancers	Right Atrium	heart
12	chr3:42740400-42741200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:42740400-42742000	Genic enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:42740400-42742000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
15	chr3:42740400-42742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:42740600-42741000	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:42740600-42741400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:42740600-42742800	Weak transcription	Spleen	Spleen
19	chr3:42740800-42741000	Flanking Active TSS	Right Ventricle	heart
20	chr3:42740800-42741200	Enhancers	Brain Substantia Nigra	brain
21	chr3:42740800-42741600	Enhancers	Brain Angular Gyrus	brain
22	chr3:42740800-42742400	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:42740800-42742800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:42740800-42744200	Active TSS	Left Ventricle	heart

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