Variant report

Variant	rs10912871
Chromosome Location	chr1:174995659-174995660
allele	C/T
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	ZNF274	chr1:174995364-174996426	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174992317..174994032-chr1:174994070..174996061,2	K562	blood:
2	chr1:174965007..174966867-chr1:174993864..174995754,2	MCF-7	breast:
3	chr1:174994289..174996013-chr1:175298978..175301005,2	K562	blood:

Variant related genes	Relation type
ENSG00000206659	TF binding region
MRPS14	TF binding region
ENSG00000252552	Chromatin interaction
ENSG00000120333	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1034462	0.82[EUR][1000 genomes]
rs1058741	0.82[EUR][1000 genomes]
rs17302165	0.81[EUR][1000 genomes]
rs17302367	0.83[EUR][1000 genomes]
rs2157567	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34390425	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3766697	0.82[EUR][1000 genomes]
rs74128535	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7531032	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7554767	0.82[EUR][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	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
2	esv3395419	chr1:174994329-174997427	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3423951	chr1:174994554-174997102	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3409419	chr1:174994954-174998202	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3355252	chr1:174995179-174997077	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10912871	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs10912871	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs10912871	RP11-160H22.5	cis	Thyroid	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-174998200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:174993200-174998200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:174993200-174998200	Weak transcription	HMEC	breast
4	chr1:174993200-174998400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:174993200-174998400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:174993200-174998600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:174993200-174998600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:174993200-174998600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:174993200-174998600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:174993200-174998800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:174993200-174998800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
14	chr1:174993400-174998200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:174993400-174998200	Weak transcription	Pancreas	Pancrea
16	chr1:174993400-174998200	Weak transcription	HepG2	liver
17	chr1:174993400-174998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:174993400-174998600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:174993400-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:174993400-174998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:174993400-174998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:174993400-174998600	Weak transcription	Fetal Thymus	thymus
23	chr1:174993400-174998600	Weak transcription	K562	blood
24	chr1:174993400-174998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:174993600-174998600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:174993600-174998600	Weak transcription	Dnd41	blood

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