Variant report

Variant	rs2053212
Chromosome Location	chr15:31594680-31594681
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	chr15:31592714..31596945-chr15:31609581..31612731,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12324628	0.87[EUR][1000 genomes]
rs34401787	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34518136	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71474655	1.00[AMR][1000 genomes];0.89[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	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
11	nsv456747	chr15:31537496-31637996	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv568772	chr15:31537496-31637996	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3375334	chr15:31594664-31595051	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31587200-31595000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr15:31588200-31597200	Enhancers	Brain Germinal Matrix	brain
3	chr15:31588600-31596600	Enhancers	Placenta	Placenta
4	chr15:31589000-31595200	Enhancers	Fetal Thymus	thymus
5	chr15:31589000-31598600	Enhancers	Thymus	Thymus
6	chr15:31589200-31597200	Enhancers	Brain Hippocampus Middle	brain
7	chr15:31589400-31595000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:31589400-31601800	Enhancers	Fetal Muscle Leg	muscle
9	chr15:31589600-31595200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:31589800-31595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:31589800-31595200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:31590000-31595000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:31590000-31595000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:31590400-31600600	Enhancers	Brain Cingulate Gyrus	brain
15	chr15:31590600-31599600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:31590800-31595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:31590800-31600600	Enhancers	Brain Substantia Nigra	brain
18	chr15:31591000-31595400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:31591200-31594800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:31591200-31595200	Weak transcription	Esophagus	oesophagus
21	chr15:31591400-31595400	Weak transcription	Fetal Intestine Small	intestine
22	chr15:31591400-31598400	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:31591400-31600600	Enhancers	Brain Anterior Caudate	brain
24	chr15:31591600-31600600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr15:31591800-31601400	Enhancers	Fetal Brain Male	brain
26	chr15:31592000-31595200	Weak transcription	K562	blood
27	chr15:31592000-31595400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:31592000-31598200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:31592000-31598800	Enhancers	Fetal Brain Female	brain
30	chr15:31592000-31599800	Enhancers	Brain Angular Gyrus	brain
31	chr15:31592400-31597000	Enhancers	Left Ventricle	heart
32	chr15:31592400-31601600	Enhancers	Spleen	Spleen
33	chr15:31592400-31602800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:31592600-31595400	Weak transcription	Fetal Intestine Large	intestine
35	chr15:31592600-31595400	Weak transcription	Hela-S3	cervix
36	chr15:31592600-31596000	Enhancers	Primary B cells from cord blood	blood
37	chr15:31592600-31596400	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:31592600-31596400	Enhancers	Colonic Mucosa	Colon
39	chr15:31592800-31595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:31592800-31595600	Enhancers	Fetal Stomach	stomach
41	chr15:31592800-31601800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr15:31593000-31595000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:31593000-31596200	Enhancers	Adipose Nuclei	Adipose
44	chr15:31593000-31596800	Enhancers	Right Atrium	heart
45	chr15:31593000-31596800	Enhancers	Right Ventricle	heart
46	chr15:31593000-31601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:31593200-31595200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:31593200-31596800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:31593200-31602800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:31593400-31596200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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