Variant report

Variant	rs7197933
Chromosome Location	chr16:46721294-46721295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:46721026-46721328	K562	blood:	n/a	chr16:46721173-46721189 chr16:46721174-46721185 chr16:46721174-46721185 chr16:46721173-46721188 chr16:46721172-46721186
2	MAFF	chr16:46721026-46721348	HepG2	liver:	n/a	chr16:46721171-46721189
3	MAFK	chr16:46721010-46721360	HepG2	liver:	n/a	chr16:46721173-46721189 chr16:46721174-46721185 chr16:46721174-46721185 chr16:46721173-46721188 chr16:46721172-46721186
4	CTCF	chr16:46721260-46721410	MCF-7	breast:	n/a	n/a
5	CTCF	chr16:46721280-46721430	NHEK	skin:	n/a	n/a
6	MAFK	chr16:46721014-46721345	IMR90	lung:	n/a	chr16:46721173-46721189 chr16:46721174-46721185 chr16:46721174-46721185 chr16:46721173-46721188 chr16:46721172-46721186
7	MXI1	chr16:46721259-46725435	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr16:46721260-46721410	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr16:46721240-46721390	HEK293	kidney:	n/a	n/a
10	MAFK	chr16:46721036-46721351	HepG2	liver:	n/a	chr16:46721173-46721189 chr16:46721174-46721185 chr16:46721174-46721185 chr16:46721173-46721188 chr16:46721172-46721186

No.	Distal block	Cell Line	Cell type
1	chr16:46713745..46716784-chr16:46720254..46722290,3	K562	blood:
2	chr16:46720929..46723857-chr16:46796007..46798416,2	MCF-7	breast:
3	chr16:46707772..46709754-chr16:46720793..46723011,2	MCF-7	breast:
4	chr16:46721087..46725989-chr16:46862740..46865236,7	K562	blood:
5	chr16:46713745..46716784-chr16:46720254..46722290,4	K562	blood:

Variant related genes	Relation type
ORC6	TF binding region
VPS35	TF binding region
ENSG00000069329	Chromatin interaction
ENSG00000140795	Chromatin interaction
ENSG00000155330	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11865169	1.00[AMR][1000 genomes]
rs11865477	1.00[AMR][1000 genomes]
rs8047174	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049905	1.00[AMR][1000 genomes]
rs8051686	1.00[AMR][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	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv1799771	chr16:46705343-46731413	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr16:46702600-46722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46705000-46721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:46705600-46721400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:46705800-46721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:46705800-46721400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:46705800-46722200	Weak transcription	Aorta	Aorta
7	chr16:46710000-46721400	Weak transcription	Gastric	stomach
8	chr16:46713400-46721400	Weak transcription	Lung	lung
9	chr16:46713600-46721400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:46713600-46721400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr16:46713600-46721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:46713600-46721400	Weak transcription	Esophagus	oesophagus
13	chr16:46713600-46721400	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:46713600-46721400	Weak transcription	Fetal Thymus	thymus
15	chr16:46713600-46721400	Weak transcription	Spleen	Spleen
16	chr16:46713600-46721600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:46714600-46721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:46714600-46721400	Weak transcription	Placenta	Placenta
19	chr16:46716400-46721400	Enhancers	Stomach Mucosa	stomach
20	chr16:46716600-46721400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:46716800-46721400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:46717800-46722000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:46718000-46721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:46718000-46721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:46718000-46721400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:46718200-46721400	Weak transcription	Left Ventricle	heart
27	chr16:46718200-46721400	Weak transcription	Pancreas	Pancrea
28	chr16:46718200-46721600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr16:46718200-46722200	Weak transcription	Small Intestine	intestine
30	chr16:46718800-46721400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr16:46719400-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:46719400-46722000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:46720000-46724200	Active TSS	Fetal Intestine Large	intestine
34	chr16:46720200-46721400	Enhancers	Hela-S3	cervix
35	chr16:46720400-46721400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr16:46720400-46721400	Enhancers	Primary B cells from cord blood	blood
37	chr16:46720400-46721400	Enhancers	Brain Hippocampus Middle	brain
38	chr16:46720400-46721400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:46720400-46721600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr16:46720400-46721600	Enhancers	Colon Smooth Muscle	Colon
41	chr16:46720400-46721600	Flanking Active TSS	HMEC	breast
42	chr16:46720400-46722200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:46720400-46722200	Flanking Active TSS	Dnd41	blood
44	chr16:46720600-46721400	Enhancers	Primary hematopoietic stem cells	blood
45	chr16:46720600-46721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:46720600-46721400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:46720600-46721400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:46720600-46721400	Enhancers	Brain Substantia Nigra	brain
49	chr16:46720600-46721400	Enhancers	HSMM	muscle
50	chr16:46720600-46721400	Enhancers	NH-A	brain

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