Variant report

Variant	rs7044574
Chromosome Location	chr9:107968330-107968331
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13288985	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13299435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1562251	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41339744	1.00[CHB][hapmap]
rs55984349	0.82[EUR][1000 genomes]
rs56148246	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61151016	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7037369	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742547	0.82[EUR][1000 genomes]
rs7866760	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046935	chr9:107414720-108028061	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv893684	chr9:107893629-108001107	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1045079	chr9:107938039-107975595	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1043466	chr9:107950174-108001988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7044574	SLC44A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:107966400-107968600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:107966400-107968800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr9:107966600-107968600	Enhancers	NHDF-Ad	bronchial
4	chr9:107966600-107969800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:107966600-107969800	Enhancers	Osteobl	bone
6	chr9:107966600-107970000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:107966800-107968400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:107966800-107969800	Enhancers	NHLF	lung
9	chr9:107967000-107969800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:107967200-107970200	Enhancers	Fetal Lung	lung
11	chr9:107967200-107970400	Enhancers	Liver	Liver
12	chr9:107967400-107969800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:107967600-107968800	Enhancers	Psoas Muscle	Psoas
14	chr9:107967600-107969800	Enhancers	Fetal Brain Male	brain
15	chr9:107967800-107968400	Enhancers	Stomach Smooth Muscle	stomach
16	chr9:107967800-107969800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:107967800-107969800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:107967800-107970000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:107967800-107970000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:107968000-107968800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:107968000-107969000	Enhancers	Fetal Stomach	stomach
22	chr9:107968000-107969400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:107968000-107970000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr9:107968200-107968400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:107968200-107968800	Enhancers	NH-A	brain
26	chr9:107968200-107969000	Enhancers	Fetal Muscle Leg	muscle
27	chr9:107968200-107969400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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