Variant report

Variant	rs10991630
Chromosome Location	chr9:108097281-108097282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10991619	1.00[CEU][hapmap]
rs10991625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991633	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991634	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991636	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10991640	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991641	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991643	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10991644	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991645	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11096	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12376222	1.00[CEU][hapmap]
rs12377753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12377755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12379026	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12379533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12380580	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs1360087	1.00[CEU][hapmap]
rs1410838	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1969981	0.86[EUR][1000 genomes]
rs2149591	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2417641	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2771032	0.86[EUR][1000 genomes]
rs2771034	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2771043	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2812296	1.00[CEU][hapmap]
rs2812313	0.86[EUR][1000 genomes]
rs2812317	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs327994	1.00[CEU][hapmap]

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	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
2	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
3	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10991630	SLC44A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
2	chr9:108062200-108098800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr9:108062400-108098800	Weak transcription	Spleen	Spleen
4	chr9:108062400-108104600	Weak transcription	Right Ventricle	heart
5	chr9:108062600-108098600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:108062600-108098800	Weak transcription	Left Ventricle	heart
7	chr9:108062600-108098800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:108062800-108098400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:108062800-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:108066200-108098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:108068800-108098600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:108069000-108104000	Weak transcription	Fetal Heart	heart
13	chr9:108071600-108099000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:108071800-108097800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:108072400-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:108078400-108101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:108079600-108098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:108080000-108098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:108080400-108097800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:108081000-108123000	Weak transcription	Primary B cells from cord blood	blood
21	chr9:108082000-108097600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:108082000-108098800	Weak transcription	Pancreas	Pancrea
23	chr9:108082200-108098600	Weak transcription	Primary T cells from cord blood	blood
24	chr9:108085000-108097800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr9:108087400-108098600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:108089600-108097600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:108090000-108097800	Enhancers	Brain Substantia Nigra	brain
28	chr9:108090000-108098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:108090800-108108600	Weak transcription	Brain Germinal Matrix	brain
30	chr9:108091000-108097800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:108091200-108098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:108091200-108098800	Weak transcription	Fetal Thymus	thymus
33	chr9:108091400-108098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:108091600-108098600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:108091600-108103800	Weak transcription	Thymus	Thymus
36	chr9:108091600-108150400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:108091800-108098800	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:108091800-108101400	Weak transcription	NHEK	skin
39	chr9:108092000-108101000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:108092000-108124000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:108092000-108148000	Weak transcription	Psoas Muscle	Psoas
42	chr9:108092200-108104200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:108092400-108097800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr9:108092600-108098400	Weak transcription	Aorta	Aorta
45	chr9:108092600-108098800	Weak transcription	Fetal Lung	lung
46	chr9:108092800-108098800	Weak transcription	Adipose Nuclei	Adipose
47	chr9:108093000-108098800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:108093200-108108400	Weak transcription	Fetal Brain Female	brain
49	chr9:108093200-108123200	Weak transcription	Colonic Mucosa	Colon
50	chr9:108093200-108149800	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links