Variant report

Variant	rs952006
Chromosome Location	chr16:31889059-31889060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31888939..31890909-chr16:31894661..31896622,2	MCF-7	breast:
2	chr16:31468495..31471325-chr16:31888091..31891819,4	K562	blood:

Variant related genes	Relation type
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56984047	1.00[AFR][1000 genomes]
rs57664662	0.93[AFR][1000 genomes]
rs58487380	1.00[AFR][1000 genomes]
rs58641712	0.93[AFR][1000 genomes]
rs59378014	0.93[AFR][1000 genomes]
rs61394714	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1066522	chr16:31831196-31959992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1057300	chr16:31862900-31959992	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31884600-31890200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr16:31885200-31892400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr16:31885800-31889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:31886000-31889600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:31886200-31889400	Enhancers	Gastric	stomach
6	chr16:31886200-31889400	Enhancers	Pancreas	Pancrea
7	chr16:31886200-31891600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:31886200-31891600	Weak transcription	Ovary	ovary
9	chr16:31886400-31889200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr16:31886400-31889400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr16:31886600-31889200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:31886600-31889600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:31886600-31889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:31886600-31891600	Weak transcription	Fetal Heart	heart
15	chr16:31886600-31893800	Weak transcription	Fetal Kidney	kidney
16	chr16:31886800-31889400	Weak transcription	Placenta	Placenta
17	chr16:31886800-31889400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr16:31886800-31889600	Weak transcription	Liver	Liver
19	chr16:31886800-31891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:31886800-31891800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:31886800-31894400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:31886800-31897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:31886800-31898200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:31886800-31901000	Weak transcription	Fetal Brain Male	brain
25	chr16:31887000-31889200	Enhancers	Adipose Nuclei	Adipose
26	chr16:31887000-31889200	Weak transcription	Right Ventricle	heart
27	chr16:31887000-31889400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:31887000-31889400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr16:31887000-31889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:31887000-31889400	Weak transcription	Aorta	Aorta
31	chr16:31887000-31889600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:31887000-31889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:31887000-31889600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:31887000-31889600	Enhancers	Small Intestine	intestine
35	chr16:31887000-31889600	Enhancers	Stomach Smooth Muscle	stomach
36	chr16:31887000-31889800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:31887000-31890000	Enhancers	Brain Anterior Caudate	brain
38	chr16:31887000-31890200	Enhancers	Stomach Mucosa	stomach
39	chr16:31887000-31891200	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:31887000-31891800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:31887000-31894000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr16:31887000-31895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:31887000-31901600	Weak transcription	Fetal Brain Female	brain
44	chr16:31887000-31902200	ZNF genes & repeats	A549	lung
45	chr16:31887200-31889200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:31887200-31889400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:31887200-31889400	Enhancers	Hela-S3	cervix
48	chr16:31887200-31889600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr16:31887200-31890000	Genic enhancers	Dnd41	blood
50	chr16:31887200-31890800	Enhancers	HMEC	breast

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