Variant report

Variant	rs13333447
Chromosome Location	chr16:70775301-70775302
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70716873..70722425-chr16:70770832..70776787,8	MCF-7	breast:
2	chr16:70713079..70721608-chr16:70767367..70776352,14	MCF-7	breast:
3	chr16:70773737..70776366-chr16:70784353..70786152,2	K562	blood:
4	chr16:70769869..70777910-chr16:70778144..70784375,13	MCF-7	breast:
5	chr16:70772901..70775899-chr16:70833943..70836522,3	K562	blood:
6	chr16:70714806..70720740-chr16:70769240..70775659,10	K562	blood:
7	chr16:70765832..70768076-chr16:70774273..70775782,2	MCF-7	breast:
8	chr16:70774377..70777622-chr16:70778697..70781514,4	K562	blood:
9	chr16:70773280..70776037-chr16:70815030..70816770,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13339302	0.83[AMR][1000 genomes]
rs16970464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194527	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8059656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	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
8	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
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
3	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:70761200-70777600	Weak transcription	K562	blood
5	chr16:70762200-70778200	Weak transcription	Ovary	ovary
6	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
7	chr16:70768600-70776200	Enhancers	NHDF-Ad	bronchial
8	chr16:70768800-70776400	Genic enhancers	Fetal Stomach	stomach
9	chr16:70769200-70776000	Enhancers	Fetal Heart	heart
10	chr16:70769800-70775600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:70770200-70776600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:70770400-70775600	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:70770600-70777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:70771000-70776600	Enhancers	Liver	Liver
15	chr16:70771200-70782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:70771400-70775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:70771400-70783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:70771800-70776400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:70772000-70776600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:70772000-70776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:70772200-70775600	Enhancers	NHLF	lung
22	chr16:70772200-70776000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:70772200-70776600	Genic enhancers	Spleen	Spleen
24	chr16:70772200-70777800	Weak transcription	Psoas Muscle	Psoas
25	chr16:70772200-70778000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:70772400-70777200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:70772400-70777400	Weak transcription	Primary B cells from cord blood	blood
28	chr16:70772400-70778200	Strong transcription	Fetal Intestine Large	intestine
29	chr16:70772400-70778800	Weak transcription	Stomach Mucosa	stomach
30	chr16:70772400-70783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:70772600-70777400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:70772600-70777400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:70772600-70779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:70772800-70778400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:70773000-70775600	Strong transcription	Fetal Brain Female	brain
37	chr16:70773000-70776600	Weak transcription	Brain Anterior Caudate	brain
38	chr16:70773000-70776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:70773000-70777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:70773000-70777600	Weak transcription	Left Ventricle	heart
41	chr16:70773000-70777600	Weak transcription	Small Intestine	intestine
42	chr16:70773000-70779400	Weak transcription	Brain Angular Gyrus	brain
43	chr16:70773000-70779600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:70773200-70775400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:70773200-70776000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:70773200-70776400	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:70773200-70777400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:70773200-70779600	Weak transcription	Colon Smooth Muscle	Colon

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