Variant report

Variant	rs8042439
Chromosome Location	chr15:99817442-99817443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10152456	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10152794	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591132	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12593449	0.96[CEU][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1567417	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1567418	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2084900	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2902154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55909409	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56315393	0.90[EUR][1000 genomes]
rs56341787	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56364603	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62023767	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62025697	0.89[ASN][1000 genomes]
rs7170360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175165	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7178124	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8025136	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8028374	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8029886	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8043311	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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 miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
15	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv977760	chr15:99817087-99826056	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99846400	Weak transcription	Lung	lung
2	chr15:99792600-99832200	Weak transcription	Aorta	Aorta
3	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
4	chr15:99793000-99823800	Weak transcription	Fetal Brain Male	brain
5	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:99793000-99866600	Weak transcription	Gastric	stomach
8	chr15:99793200-99822400	Weak transcription	Adipose Nuclei	Adipose
9	chr15:99794000-99830800	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:99794000-99840000	Weak transcription	Brain Anterior Caudate	brain
11	chr15:99794000-99846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:99794200-99834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:99794200-99847000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:99794400-99819000	Weak transcription	Primary B cells from cord blood	blood
15	chr15:99794400-99845200	Weak transcription	HSMMtube	muscle
16	chr15:99798000-99838200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:99798200-99819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:99798400-99831200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:99798400-99834600	Weak transcription	HSMM	muscle
20	chr15:99798600-99819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:99799200-99819800	Weak transcription	Primary T cells from cord blood	blood
22	chr15:99799400-99838200	Weak transcription	Fetal Lung	lung
23	chr15:99799600-99824800	Weak transcription	Left Ventricle	heart
24	chr15:99800000-99834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:99803200-99832200	Weak transcription	Fetal Stomach	stomach
26	chr15:99805000-99822000	Weak transcription	NHEK	skin
27	chr15:99805400-99819200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:99805600-99819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:99808800-99845200	Weak transcription	Fetal Kidney	kidney
30	chr15:99809000-99828000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:99809000-99830800	Weak transcription	Fetal Intestine Large	intestine
32	chr15:99809000-99846400	Weak transcription	Pancreas	Pancrea
33	chr15:99809000-99846400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:99813400-99819200	Weak transcription	Liver	Liver
35	chr15:99813800-99822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:99814000-99819000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:99814200-99838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:99814400-99819600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:99814400-99823800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:99814600-99824000	Weak transcription	Osteobl	bone
41	chr15:99816200-99818000	Flanking Active TSS	Dnd41	blood
42	chr15:99816200-99824000	Weak transcription	Fetal Heart	heart
43	chr15:99816200-99828800	Weak transcription	Fetal Intestine Small	intestine
44	chr15:99816200-99832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:99816400-99838800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:99816600-99817800	Active TSS	Fetal Thymus	thymus
47	chr15:99816600-99819000	Weak transcription	Thymus	Thymus
48	chr15:99816800-99846400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:99817000-99845000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:99817200-99818000	Enhancers	GM12878-XiMat	blood

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