Variant report

Variant	rs4242349
Chromosome Location	chr8:124932905-124932906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124835624..124840070-chr8:124931025..124937507,8	MCF-7	breast:
2	chr8:124929623..124931147-chr8:124932693..124935660,2	K562	blood:
3	chr8:124779448..124782514-chr8:124930705..124935453,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11987138	0.81[CHB][hapmap]
rs13250190	0.81[CEU][hapmap]
rs13268486	0.81[CEU][hapmap]
rs13268977	0.81[CEU][hapmap]
rs4242351	0.80[CEU][hapmap]
rs4299983	0.81[CEU][hapmap]
rs4492357	0.80[CEU][hapmap]
rs4870877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871428	0.80[CEU][hapmap]
rs4871430	0.81[CEU][hapmap]
rs4871431	0.81[CEU][hapmap]
rs4871434	0.81[CEU][hapmap]
rs4871439	0.88[CEU][hapmap]
rs6981056	0.85[CEU][hapmap]
rs6981229	0.92[CEU][hapmap]
rs6984557	0.87[CEU][hapmap]
rs7464664	0.81[CEU][hapmap]
rs7838473	0.81[CEU][hapmap]
rs7839327	0.81[CEU][hapmap]
rs7842762	0.88[CEU][hapmap]

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	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124927600-124934000	Weak transcription	HSMMtube	muscle
2	chr8:124927600-124934000	Weak transcription	K562	blood
3	chr8:124928800-124934000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:124929200-124933600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:124931000-124934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:124931400-124936000	Enhancers	Fetal Intestine Large	intestine
7	chr8:124932200-124933800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:124932200-124934000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:124932400-124934400	Enhancers	Fetal Intestine Small	intestine
10	chr8:124932600-124933400	Enhancers	GM12878-XiMat	blood
11	chr8:124932600-124934000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:124932600-124934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:124932600-124934200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:124932600-124935800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:124932800-124933800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:124932800-124933800	Weak transcription	Pancreas	Pancrea
17	chr8:124932800-124933800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:124932800-124934000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:124932800-124934600	Enhancers	Stomach Mucosa	stomach
20	chr8:124932800-124935000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links