Variant report

Variant	rs2072642
Chromosome Location	chr6:167189069-167189070
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167188440..167189341-chr6:167411317..167412076,2	MCF-7	breast:
2	chr6:167188128..167189127-chr6:167402681..167403785,5	MCF-7	breast:
3	chr6:167187491..167189760-chr6:167193508..167196442,3	K562	blood:
4	chr6:167187491..167191588-chr6:167191761..167196442,4	K562	blood:
5	chr6:167187421..167189873-chr6:167410909..167412648,3	MCF-7	breast:
6	chr6:167188755..167189454-chr6:167555413..167556221,2	MCF-7	breast:
7	chr6:167173631..167176313-chr6:167188907..167191189,2	K562	blood:
8	chr6:167188403..167189352-chr6:167555280..167555897,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265828	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10484520	0.96[AMR][1000 genomes]
rs11965853	1.00[AFR][1000 genomes]
rs12660931	0.96[AMR][1000 genomes]
rs16899426	1.00[AFR][1000 genomes]
rs16899454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16899459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16899466	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16899513	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16899540	0.83[AMR][1000 genomes]
rs2072643	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2072645	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2072646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2182853	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2242574	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4709137	0.82[EUR][1000 genomes]
rs4710098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4710099	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4710101	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4710103	0.84[AMR][1000 genomes]
rs4710105	0.96[AMR][1000 genomes]
rs4710114	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55872852	1.00[AFR][1000 genomes]
rs56248817	1.00[AFR][1000 genomes]
rs61194672	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic 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	10 gene(s)	inside rSNPs	diseases
8	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv605326	chr6:167182277-167196032	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167182200-167218600	Weak transcription	Right Atrium	heart
2	chr6:167188400-167189200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr6:167188400-167189600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:167188600-167189200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr6:167188800-167189200	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:167188800-167189600	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr6:167188800-167190800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:167189000-167189200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:167189000-167189200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr6:167189000-167189400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:167189000-167189400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:167189000-167189400	Enhancers	Brain Anterior Caudate	brain
13	chr6:167189000-167189400	Enhancers	Fetal Brain Male	brain
14	chr6:167189000-167189400	Bivalent Enhancer	K562	blood
15	chr6:167189000-167189600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:167189000-167189600	Enhancers	Fetal Thymus	thymus

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