Variant report

Variant	rs6854295
Chromosome Location	chr4:122716782-122716783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:
2	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1051881	1.00[CEU][hapmap];0.91[ASN][1000 genomes]
rs1803183	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217767	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749475	1.00[CEU][hapmap]
rs4077754	1.00[ASN][1000 genomes]
rs55685419	1.00[ASN][1000 genomes]
rs55803709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030020	1.00[ASN][1000 genomes]
rs56221685	1.00[ASN][1000 genomes]
rs56300111	1.00[ASN][1000 genomes]
rs57779372	1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs59268194	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60240575	1.00[ASN][1000 genomes]
rs61180375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61434837	0.91[ASN][1000 genomes]
rs61665948	1.00[ASN][1000 genomes]
rs6823340	1.00[ASN][1000 genomes]
rs6825926	1.00[ASN][1000 genomes]
rs6830453	1.00[CEU][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836544	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6858061	1.00[ASN][1000 genomes]
rs72913991	1.00[EUR][1000 genomes]
rs72919964	1.00[EUR][1000 genomes]
rs73844293	1.00[ASN][1000 genomes]
rs73844294	1.00[ASN][1000 genomes]
rs73844297	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844298	1.00[ASN][1000 genomes]
rs73847203	1.00[ASN][1000 genomes]
rs73847204	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847205	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73847206	1.00[ASN][1000 genomes]
rs7684547	0.83[ASN][1000 genomes]
rs769243	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs769245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7694815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
2	chr4:122711800-122721800	Weak transcription	HMEC	breast
3	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:122712200-122721600	Weak transcription	A549	lung
5	chr4:122712400-122717000	Weak transcription	HUVEC	blood vessel
6	chr4:122713000-122717000	Weak transcription	NHLF	lung
7	chr4:122713200-122716800	Weak transcription	NHDF-Ad	bronchial
8	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
9	chr4:122714600-122716800	Weak transcription	NHEK	skin
10	chr4:122714600-122717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:122715600-122717600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:122715600-122717600	Enhancers	Thymus	Thymus
14	chr4:122715600-122717600	Enhancers	HSMM	muscle
15	chr4:122715600-122717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:122715600-122717800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:122715600-122718200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:122715600-122721800	Enhancers	Fetal Thymus	thymus
19	chr4:122715800-122716800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:122715800-122717000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:122715800-122717200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:122715800-122717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:122715800-122717800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:122715800-122718200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:122716000-122717600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:122716000-122717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:122716000-122718200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:122716200-122716800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:122716200-122717200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:122716200-122720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:122716200-122721000	Weak transcription	Fetal Heart	heart
32	chr4:122716200-122721800	Weak transcription	Osteobl	bone
33	chr4:122716400-122716800	Enhancers	HepG2	liver
34	chr4:122716400-122717200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:122716400-122717400	Enhancers	K562	blood
36	chr4:122716600-122717000	Active TSS	GM12878-XiMat	blood
37	chr4:122716600-122717600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:122716600-122717600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:122716600-122717600	Flanking Active TSS	Dnd41	blood
40	chr4:122716600-122717800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:122716600-122717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:122716600-122718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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