Variant report

Variant	rs62027229
Chromosome Location	chr15:75958979-75958980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75957411..75961529-chr15:75962208..75964451,4	K562	blood:
2	chr15:75927186..75935349-chr15:75957229..75967736,17	MCF-7	breast:
3	chr15:75952724..75954958-chr15:75955903..75959191,3	K562	blood:
4	chr15:75957948..75959821-chr15:76078082..76079787,2	K562	blood:
5	chr15:75958758..75959465-chr3:136470447..136471369,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000118007	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000260206	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11632887	0.86[EUR][1000 genomes]
rs11638663	0.84[EUR][1000 genomes]
rs11856001	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62027227	0.80[EUR][1000 genomes]
rs62027230	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62027233	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	nsv904395	chr15:75957928-75984095	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75950400-75964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:75950600-75959200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75953000-75969600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:75953200-75962200	Enhancers	Stomach Mucosa	stomach
5	chr15:75953200-75964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:75953200-75964800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:75953400-75959000	Weak transcription	Small Intestine	intestine
8	chr15:75953400-75959600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:75953400-75964800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:75953600-75959600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:75954000-75959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:75954000-75961200	Enhancers	NHEK	skin
13	chr15:75954200-75959000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:75954200-75965000	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:75954400-75959000	Weak transcription	Aorta	Aorta
16	chr15:75954400-75959000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:75954400-75959000	Weak transcription	Right Atrium	heart
18	chr15:75954400-75959800	Strong transcription	Fetal Stomach	stomach
19	chr15:75954400-75964200	Weak transcription	Ovary	ovary
20	chr15:75954400-75964800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:75954400-75964800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:75954600-75964000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:75955200-75960200	Genic enhancers	Fetal Intestine Small	intestine
24	chr15:75955400-75960200	Enhancers	Fetal Intestine Large	intestine
25	chr15:75955400-75960400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr15:75955600-75960400	Enhancers	Placenta	Placenta
27	chr15:75955600-75965400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:75956200-75966400	Enhancers	HMEC	breast
29	chr15:75956600-75964600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:75956600-75967000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:75956800-75964000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:75957000-75959400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:75957000-75961800	Weak transcription	K562	blood
34	chr15:75957000-75963200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr15:75957200-75959000	Weak transcription	Gastric	stomach
36	chr15:75957200-75959000	Weak transcription	Pancreas	Pancrea
37	chr15:75957200-75959600	Enhancers	NHDF-Ad	bronchial
38	chr15:75957200-75959800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:75957200-75959800	Enhancers	HepG2	liver
40	chr15:75957200-75962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:75957400-75959400	Weak transcription	Esophagus	oesophagus
42	chr15:75957400-75962000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:75957600-75959400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:75957800-75959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:75957800-75959000	Enhancers	Adipose Nuclei	Adipose
46	chr15:75957800-75959600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr15:75957800-75960400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:75957800-75967200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr15:75958000-75959400	Enhancers	Liver	Liver
50	chr15:75958000-75959400	Enhancers	NHLF	lung

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