Variant report

Variant	rs72789430
Chromosome Location	chr16:75520252-75520253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75497139..75499689-chr16:75518408..75520806,2	K562	blood:
2	chr16:75495821..75498564-chr16:75519066..75522748,3	MCF-7	breast:
3	chr16:75520122..75522617-chr16:75545167..75547600,2	MCF-7	breast:
4	chr16:75514359..75521343-chr16:75549270..75552665,7	MCF-7	breast:
5	chr16:75496250..75498914-chr16:75519937..75523724,3	MCF-7	breast:
6	chr16:75518580..75520700-chr16:75535226..75539428,3	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:6)

rs_ID	r²[population]
rs247453	0.90[EUR][1000 genomes]
rs37591	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72787185	0.95[AFR][1000 genomes]
rs72787193	0.95[AFR][1000 genomes]
rs72787197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8062024	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75506800-75520400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr16:75507000-75525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:75512600-75525600	Weak transcription	Brain Angular Gyrus	brain
4	chr16:75513600-75523400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:75514000-75520800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:75514000-75522800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:75514000-75523400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:75514000-75524800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:75514000-75525400	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:75514000-75528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:75514000-75528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:75514200-75520600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:75514200-75522800	Weak transcription	Brain Substantia Nigra	brain
14	chr16:75514200-75525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:75515200-75520600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:75515800-75520400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:75515800-75520600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:75516000-75521000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:75516200-75521200	Enhancers	NHEK	skin
20	chr16:75516400-75521200	Enhancers	HMEC	breast
21	chr16:75516600-75521200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:75517200-75526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:75517400-75520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:75517400-75522800	Weak transcription	Brain Anterior Caudate	brain
25	chr16:75517600-75520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:75517600-75521200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:75518200-75520800	Enhancers	Dnd41	blood
28	chr16:75519200-75520800	Enhancers	Esophagus	oesophagus
29	chr16:75519200-75521400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:75519400-75521200	Flanking Active TSS	GM12878-XiMat	blood
31	chr16:75519400-75521400	Enhancers	HSMMtube	muscle
32	chr16:75519600-75520800	Enhancers	Placenta	Placenta
33	chr16:75519600-75521400	Enhancers	Fetal Intestine Small	intestine
34	chr16:75519600-75521600	Enhancers	Fetal Intestine Large	intestine
35	chr16:75519800-75520400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr16:75519800-75520800	Flanking Active TSS	HepG2	liver
37	chr16:75519800-75520800	Enhancers	HSMM	muscle
38	chr16:75519800-75521400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr16:75519800-75521600	Enhancers	Colonic Mucosa	Colon
40	chr16:75520000-75520400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr16:75520000-75520800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:75520200-75520600	Active TSS	Rectal Smooth Muscle	rectum
43	chr16:75520200-75521000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr16:75520200-75521200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr16:75520200-75521400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr16:75520200-75525600	Weak transcription	Hela-S3	cervix
47	chr16:75520200-75525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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