Variant report

Variant	rs4838415
Chromosome Location	chr10:49713965-49713966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49707073..49711100-chr10:49713490..49716250,3	K562	blood:
2	chr10:49713932..49717816-chr10:49742746..49746059,3	K562	blood:
3	chr10:49707527..49709358-chr10:49712606..49714171,2	K562	blood:
4	chr10:49712691..49716238-chr10:49728195..49733174,5	K562	blood:
5	chr10:49512115..49516800-chr10:49713626..49715542,4	K562	blood:
6	chr10:49713826..49717579-chr10:49717710..49719906,5	K562	blood:
7	chr10:49517657..49518610-chr10:49713350..49714126,2	MCF-7	breast:
8	chr10:49652128..49653347-chr10:49713187..49714230,4	MCF-7	breast:
9	chr10:49571219..49572252-chr10:49713441..49714210,3	MCF-7	breast:
10	chr10:49571896..49573651-chr10:49713045..49714727,3	K562	blood:
11	chr10:49513508..49515174-chr10:49713887..49715575,2	K562	blood:
12	chr10:49713648..49715470-chr10:49724741..49727947,3	K562	blood:
13	chr10:49658339..49659956-chr10:49712653..49715066,2	MCF-7	breast:
14	chr10:49571458..49572711-chr10:49713545..49714151,3	MCF-7	breast:
15	chr10:49652826..49653738-chr10:49713419..49714145,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000248682	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11101344	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101345	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101348	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101349	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101350	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101351	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101352	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101353	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12220948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12763969	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12768718	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12777004	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278676	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4838413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838608	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838610	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537563	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537564	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537565	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7093185	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7098760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7895625	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7898936	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7910327	0.90[ASN][1000 genomes]
rs935273	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
3	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:49706000-49716600	Weak transcription	HMEC	breast
7	chr10:49706000-49723400	Weak transcription	NH-A	brain
8	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49707400-49716600	Weak transcription	Fetal Stomach	stomach
10	chr10:49707600-49716600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49709200-49720600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:49709600-49716800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:49710000-49718600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:49710600-49718600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:49710600-49719200	Weak transcription	Pancreas	Pancrea
16	chr10:49710800-49716400	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:49711400-49714600	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:49711400-49715200	Strong transcription	NHLF	lung
19	chr10:49711600-49714000	Weak transcription	Osteobl	bone
20	chr10:49711800-49716400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:49711800-49718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:49712000-49714200	Enhancers	K562	blood
23	chr10:49712400-49716400	Weak transcription	Spleen	Spleen
24	chr10:49712600-49717800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:49712800-49715200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:49712800-49716200	Weak transcription	NHDF-Ad	bronchial
27	chr10:49712800-49716400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:49712800-49718000	Weak transcription	Fetal Thymus	thymus
29	chr10:49713000-49714200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:49713000-49715000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:49713000-49716400	Weak transcription	Ovary	ovary
32	chr10:49713000-49716800	Weak transcription	Fetal Heart	heart
33	chr10:49713000-49719200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:49713200-49716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:49713400-49714000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:49713400-49714000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:49713400-49714600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr10:49713400-49714800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:49713600-49714000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:49713600-49714000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:49713800-49714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr10:49713800-49714000	Enhancers	Adipose Nuclei	Adipose
43	chr10:49713800-49715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:49713800-49715400	Strong transcription	HSMM	muscle

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