Variant report

Variant	rs2650416
Chromosome Location	chr16:75522979-75522980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75521011..75523844-chr16:75524605..75527828,4	MCF-7	breast:
2	chr16:75521916..75524475-chr16:75547369..75550310,2	K562	blood:
3	chr16:75507460..75509082-chr16:75520993..75523733,2	MCF-7	breast:
4	chr16:75496250..75498914-chr16:75519937..75523724,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2550320	0.83[EUR][1000 genomes]
rs2550323	1.00[ASN][1000 genomes]
rs2650413	0.89[EUR][1000 genomes]
rs2650415	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75507000-75525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr16:75512600-75525600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:75513600-75523400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:75514000-75523400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:75514000-75524800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:75514000-75525400	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:75514000-75528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:75514000-75528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:75514200-75525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:75517200-75526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:75520200-75525600	Weak transcription	Hela-S3	cervix
12	chr16:75520200-75525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:75520400-75525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:75520400-75528200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:75521000-75525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:75521000-75527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:75521200-75525600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:75521200-75525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:75521200-75525600	Weak transcription	HMEC	breast
20	chr16:75521200-75525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:75521200-75526000	Weak transcription	NHEK	skin
22	chr16:75521200-75527000	Enhancers	GM12878-XiMat	blood
23	chr16:75521200-75528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:75521400-75525800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr16:75521400-75525800	Weak transcription	Placenta	Placenta
26	chr16:75521800-75524000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:75522000-75527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:75522200-75525800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:75522400-75523600	Enhancers	HepG2	liver
30	chr16:75522400-75528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:75522800-75523000	Enhancers	Brain Anterior Caudate	brain
32	chr16:75522800-75523200	Enhancers	Brain Substantia Nigra	brain
33	chr16:75522800-75523800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links