Variant report

Variant	rs9502123
Chromosome Location	chr6:4137179-4137180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4017451..4019157-chr6:4136336..4137878,2	MCF-7	breast:
3	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

Variant related genes	Relation type
ENSG00000112739	Chromatin interaction
ENSG00000230648	Chromatin interaction
ENSG00000272248	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13437287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6908189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6910161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6910963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7750697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7761323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7770168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9502119	1.00[AMR][1000 genomes]
rs9502121	1.00[AMR][1000 genomes]
rs9502124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503920	1.00[AMR][1000 genomes]
rs9503928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription 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	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv3413228	chr6:4134778-4137526	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3369872	chr6:4134903-4137401	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4136400-4137200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr6:4136400-4137200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr6:4136400-4137200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:4136400-4137200	Flanking Active TSS	K562	blood
5	chr6:4136600-4137200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:4136600-4137200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:4136600-4137200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:4136600-4137200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr6:4136600-4137200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:4136600-4137200	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr6:4136600-4137200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:4136600-4137200	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr6:4136600-4137200	Flanking Active TSS	Hela-S3	cervix
14	chr6:4136600-4138200	Enhancers	Small Intestine	intestine
15	chr6:4136800-4137200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:4136800-4137200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:4136800-4137200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:4136800-4137200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr6:4136800-4137200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:4136800-4137200	Enhancers	Fetal Heart	heart
21	chr6:4136800-4137200	Enhancers	Placenta	Placenta
22	chr6:4136800-4137200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:4136800-4139400	Enhancers	Fetal Thymus	thymus
24	chr6:4136800-4148400	Weak transcription	Pancreas	Pancrea
25	chr6:4137000-4137200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:4137000-4137200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:4137000-4137200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:4137000-4137200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:4137000-4137200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:4137000-4137200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:4137000-4137200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr6:4137000-4137200	Enhancers	Primary B cells from cord blood	blood
33	chr6:4137000-4137200	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:4137000-4137200	Enhancers	Primary T cells from cord blood	blood
35	chr6:4137000-4137200	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:4137000-4137200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:4137000-4137200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:4137000-4137200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:4137000-4137200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:4137000-4137200	Enhancers	Adipose Nuclei	Adipose
41	chr6:4137000-4137200	Enhancers	Brain Angular Gyrus	brain
42	chr6:4137000-4137200	Enhancers	Brain Anterior Caudate	brain
43	chr6:4137000-4137200	Enhancers	Fetal Brain Male	brain
44	chr6:4137000-4137200	Enhancers	Fetal Lung	lung
45	chr6:4137000-4137200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr6:4137000-4137200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:4137000-4137200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:4137000-4137200	Enhancers	Stomach Mucosa	stomach
49	chr6:4137000-4137200	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:4137000-4137200	Enhancers	Dnd41	blood

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