Variant report

Variant	rs12444172
Chromosome Location	chr16:70730573-70730574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr16:70730307-70731956	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:70730493-70731795	HL-60	blood:	n/a	n/a
3	ELF1	chr16:70730484-70731428	MCF-7	breast:	n/a	n/a
4	MAX	chr16:70730534-70731611	MCF-7	breast:	n/a	chr16:70730568-70730577

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
2	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
3	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
4	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
5	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
6	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
7	chr16:70729813..70732672-chr16:70787716..70789495,2	MCF-7	breast:

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000214353	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11075780	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11641091	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645862	0.83[ASN][1000 genomes]
rs11649476	0.81[AFR][1000 genomes]
rs4985562	0.81[AFR][1000 genomes]
rs55837830	0.81[AFR][1000 genomes]
rs7201952	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs936303	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
17	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv572948	chr16:70724432-70731870	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
3	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
4	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
5	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
6	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
9	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
10	chr16:70722800-70730800	Weak transcription	Pancreas	Pancrea
11	chr16:70723800-70732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:70724200-70732800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr16:70724600-70732000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:70725400-70732600	Enhancers	Colon Smooth Muscle	Colon
15	chr16:70726000-70731400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:70726200-70731400	Enhancers	Brain Germinal Matrix	brain
17	chr16:70726600-70733400	Enhancers	HMEC	breast
18	chr16:70726800-70732200	Enhancers	Esophagus	oesophagus
19	chr16:70726800-70733600	Enhancers	NHEK	skin
20	chr16:70727000-70730600	Enhancers	Hela-S3	cervix
21	chr16:70727000-70731000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
23	chr16:70727200-70732000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:70727200-70732000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:70727200-70732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:70727200-70733600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:70727400-70731800	Enhancers	Stomach Mucosa	stomach
28	chr16:70727400-70732600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:70727600-70731400	Enhancers	HUVEC	blood vessel
30	chr16:70727800-70731000	Enhancers	Colonic Mucosa	Colon
31	chr16:70728200-70730800	Weak transcription	Aorta	Aorta
32	chr16:70728200-70731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:70728200-70732000	Weak transcription	Dnd41	blood
34	chr16:70728200-70732600	Enhancers	Primary hematopoietic stem cells	blood
35	chr16:70728200-70735600	Weak transcription	Ovary	ovary
36	chr16:70728600-70731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:70728600-70732000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:70728800-70731200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:70728800-70732200	Enhancers	Fetal Lung	lung
40	chr16:70728800-70732800	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr16:70728800-70738600	Enhancers	Fetal Heart	heart
42	chr16:70729000-70730600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:70729000-70731000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:70729000-70731600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr16:70729000-70732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:70729000-70732000	Enhancers	Placenta	Placenta
47	chr16:70729000-70732400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:70729200-70731200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr16:70729200-70731800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr16:70729200-70731800	Enhancers	Duodenum Mucosa	Duodenum

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