Variant report

Variant	rs1389610
Chromosome Location	chr12:105181118-105181119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105180077..105182540-chr12:105221823..105224422,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1038968	0.88[EUR][1000 genomes]
rs1316594	0.83[EUR][1000 genomes]
rs1389611	0.90[EUR][1000 genomes]
rs1565815	0.82[EUR][1000 genomes]
rs2004806	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047124	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2088019	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2131806	0.84[EUR][1000 genomes]
rs2245927	0.83[EUR][1000 genomes]
rs2245929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245931	0.83[EUR][1000 genomes]
rs2453154	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2453155	0.89[EUR][1000 genomes]
rs2453156	0.81[EUR][1000 genomes]
rs2453158	0.81[EUR][1000 genomes]
rs2453167	0.83[EUR][1000 genomes]
rs2463016	0.83[EUR][1000 genomes]
rs2463017	0.83[EUR][1000 genomes]
rs2463019	0.80[EUR][1000 genomes]
rs2463020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2463025	0.83[EUR][1000 genomes]
rs2463431	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2463432	0.82[EUR][1000 genomes]
rs2463433	0.83[EUR][1000 genomes]
rs2463434	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2463435	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463437	0.81[EUR][1000 genomes]
rs2463438	0.80[EUR][1000 genomes]
rs2463442	0.80[EUR][1000 genomes]
rs2468082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468110	0.85[EUR][1000 genomes]
rs2468112	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2565167	0.83[EUR][1000 genomes]
rs2642109	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2642116	0.83[EUR][1000 genomes]
rs2730295	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2731030	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6539167	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs903247	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1389610	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105174600-105182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105178000-105186400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:105178800-105182400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:105178800-105182600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:105178800-105184000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:105178800-105184000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:105178800-105184000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:105178800-105184200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105178800-105186800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:105179000-105182400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:105179000-105184200	Weak transcription	Fetal Heart	heart
12	chr12:105179000-105186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:105179200-105182600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:105179600-105182400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:105179600-105186400	Weak transcription	Ovary	ovary
16	chr12:105179800-105182600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:105181000-105181200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:105181000-105182200	Weak transcription	K562	blood

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