Variant report

Variant	rs6839292
Chromosome Location	chr4:128794371-128794372
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128789778..128795043-chr4:128800029..128804593,11	K562	blood:
2	chr4:128792835..128795719-chr4:128797420..128799055,2	K562	blood:

Variant related genes	Relation type
ENSG00000142731	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10857126	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11098936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11098940	0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11725843	0.88[EUR][1000 genomes]
rs11735635	0.83[CEU][hapmap]
rs12503257	0.84[EUR][1000 genomes]
rs12504266	0.88[CEU][hapmap]
rs12504825	0.83[CEU][hapmap]
rs12511932	0.92[CEU][hapmap]
rs12645068	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12645636	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13127610	0.83[CEU][hapmap]
rs1380156	0.83[CEU][hapmap]
rs1459048	0.83[CEU][hapmap]
rs1459050	0.83[CEU][hapmap]
rs1585311	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1585312	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17012739	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs1870422	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1903104	0.83[CEU][hapmap]
rs1975878	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs1975879	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs2087446	0.87[EUR][1000 genomes]
rs2305957	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs2305958	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34625382	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775982	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3811740	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs3816588	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4435753	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4833391	0.83[CEU][hapmap]
rs4834217	0.83[CEU][hapmap]
rs4834223	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs4834224	0.87[CEU][hapmap]
rs4834225	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs4834226	0.83[CEU][hapmap]
rs55798529	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62335590	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6534647	0.88[EUR][1000 genomes]
rs6534648	0.83[CEU][hapmap]
rs6534655	0.86[EUR][1000 genomes]
rs6534659	0.83[CEU][hapmap]
rs7376138	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748630	0.87[CEU][hapmap]
rs7654638	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7671590	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7684368	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692740	0.88[CEU][hapmap]
rs769293	0.83[CEU][hapmap]
rs959822	0.87[CEU][hapmap]
rs9968459	0.83[CEU][hapmap]
rs9995738	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
9	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128791000-128801200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:128791800-128801000	Weak transcription	A549	lung
3	chr4:128792200-128796400	Weak transcription	Dnd41	blood
4	chr4:128792200-128801000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:128792200-128801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:128792400-128799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:128792400-128799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:128792400-128800400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:128792400-128801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:128792400-128801000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:128792400-128801200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:128792400-128801200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:128792400-128801400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:128792400-128802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:128792600-128797600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:128792600-128797600	Weak transcription	K562	blood
17	chr4:128792600-128801000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:128792600-128801000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:128792600-128801200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:128792600-128801200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:128792600-128801200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:128792600-128801200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:128792600-128801200	Weak transcription	Fetal Intestine Small	intestine
24	chr4:128792600-128801200	Weak transcription	Left Ventricle	heart
25	chr4:128792800-128797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:128792800-128800400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:128792800-128801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:128792800-128801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:128792800-128801000	Weak transcription	NHEK	skin
30	chr4:128792800-128801200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:128792800-128801800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:128793000-128800200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:128793000-128800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:128793800-128797000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:128794000-128795200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:128794200-128794400	ZNF genes & repeats	Fetal Muscle Leg	muscle

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