Variant report

Variant	rs4886727
Chromosome Location	chr15:75957375-75957376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75744039..75746293-chr15:75955937..75957648,2	K562	blood:
2	chr15:75953724..75957700-chr15:75974147..75976350,4	MCF-7	breast:
3	chr15:75927186..75935349-chr15:75957229..75967736,17	MCF-7	breast:
4	chr15:75952724..75954958-chr15:75955903..75959191,3	K562	blood:
5	chr15:75954503..75957935-chr15:75961367..75965113,3	K562	blood:
6	chr15:75956801..75958310-chr15:75964736..75966304,2	K562	blood:

Variant related genes	Relation type
ENSG00000177971	Chromatin interaction
ENSG00000260206	Chromatin interaction
ENSG00000169375	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11072554	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593327	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4243036	0.83[ASN][1000 genomes]
rs7164179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
7	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
9	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv984485	chr15:75932760-75965433	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75948800-75957400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:75950400-75964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75950600-75959200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:75950800-75957600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr15:75953000-75957400	Enhancers	Duodenum Mucosa	Duodenum
6	chr15:75953000-75969600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:75953200-75958400	Weak transcription	Right Ventricle	heart
8	chr15:75953200-75962200	Enhancers	Stomach Mucosa	stomach
9	chr15:75953200-75964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:75953200-75964800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:75953400-75957800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:75953400-75958800	Weak transcription	Brain Anterior Caudate	brain
13	chr15:75953400-75958800	Weak transcription	Fetal Heart	heart
14	chr15:75953400-75958800	Weak transcription	Psoas Muscle	Psoas
15	chr15:75953400-75959000	Weak transcription	Small Intestine	intestine
16	chr15:75953400-75959600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:75953400-75964800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:75953600-75959600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:75954000-75959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:75954000-75961200	Enhancers	NHEK	skin
21	chr15:75954200-75958000	Weak transcription	Left Ventricle	heart
22	chr15:75954200-75958800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:75954200-75958800	Weak transcription	Spleen	Spleen
24	chr15:75954200-75958800	Weak transcription	HUVEC	blood vessel
25	chr15:75954200-75959000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:75954200-75965000	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:75954400-75957800	Weak transcription	Adipose Nuclei	Adipose
28	chr15:75954400-75958400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:75954400-75958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:75954400-75958800	Weak transcription	Fetal Lung	lung
31	chr15:75954400-75959000	Weak transcription	Aorta	Aorta
32	chr15:75954400-75959000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:75954400-75959000	Weak transcription	Right Atrium	heart
34	chr15:75954400-75959800	Strong transcription	Fetal Stomach	stomach
35	chr15:75954400-75964200	Weak transcription	Ovary	ovary
36	chr15:75954400-75964800	Weak transcription	Brain Substantia Nigra	brain
37	chr15:75954400-75964800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:75954600-75957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:75954600-75958000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:75954600-75958000	Weak transcription	HSMM	muscle
41	chr15:75954600-75958000	Weak transcription	NH-A	brain
42	chr15:75954600-75958000	Weak transcription	Osteobl	bone
43	chr15:75954600-75958600	Weak transcription	HSMMtube	muscle
44	chr15:75954600-75958800	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:75954600-75964000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:75954800-75957400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:75955000-75957600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:75955000-75958200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:75955200-75958600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:75955200-75960200	Genic enhancers	Fetal Intestine Small	intestine

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