Variant report

Variant	rs12737503
Chromosome Location	chr1:174999284-174999285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174999004..175000511-chr1:175003802..175005678,2	MCF-7	breast:
2	chr1:174998987..174999569-chr1:175099097..175100136,3	MCF-7	breast:
3	chr1:174998838..174999575-chr1:175094140..175095082,5	MCF-7	breast:
4	chr1:174998565..174999544-chr1:175288462..175289441,6	K562	blood:
5	chr1:174998932..175000552-chr1:175032819..175035419,2	MCF-7	breast:
6	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:
7	chr1:174991178..174995675-chr1:174996166..175000159,7	K562	blood:
8	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
9	chr1:174998638..174999503-chr1:175094151..175094986,4	K562	blood:
10	chr1:174967869..174969561-chr1:174997515..175001267,3	K562	blood:
11	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:
12	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:
13	chr1:174998349..175001108-chr1:175001505..175005015,4	K562	blood:
14	chr1:174738823..174739778-chr1:174998610..174999515,2	K562	blood:
15	chr1:174997750..174999766-chr1:175188869..175190673,2	MCF-7	breast:
16	chr1:174998367..175000199-chr1:175006049..175008885,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000206659	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10489330	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10489332	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11811190	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12140378	0.96[ASN][1000 genomes]
rs12735946	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16847730	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2861102	0.95[ASN][1000 genomes]
rs35035962	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35464086	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3737935	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3753562	0.80[AFR][1000 genomes]
rs41266060	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41266064	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41498747	0.80[AFR][1000 genomes]
rs57053120	0.80[AFR][1000 genomes]
rs58618779	0.88[ASN][1000 genomes]
rs58762254	0.84[AFR][1000 genomes]
rs60893569	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12737503	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
3	chr1:174998200-174999400	Enhancers	Pancreas	Pancrea
4	chr1:174998200-175001800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:174998400-174999400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:174998600-174999400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:174998600-174999400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:174998600-174999400	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:174998600-174999400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:174998600-174999400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:174998600-174999400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:174998600-174999400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:174998600-174999400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:174998600-174999400	Enhancers	Fetal Brain Male	brain
15	chr1:174998600-174999400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:174998600-174999400	Enhancers	Dnd41	blood
17	chr1:174998600-174999400	Enhancers	NHLF	lung
18	chr1:174998600-174999600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:174998800-174999400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:174998800-174999400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:174998800-174999400	Enhancers	Brain Substantia Nigra	brain
22	chr1:174998800-174999400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:174998800-174999400	Enhancers	Fetal Stomach	stomach
24	chr1:174998800-174999400	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:174998800-175003800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:174999000-174999400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:174999000-174999400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:174999000-175000000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:174999000-175004000	Weak transcription	HMEC	breast
30	chr1:174999000-175005000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:174999200-175000000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:174999200-175000400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:174999200-175000400	Weak transcription	Lung	lung
34	chr1:174999200-175001800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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