Variant report

Variant	rs2016554
Chromosome Location	chr16:31055356-31055357
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31043970..31045853-chr16:31053165..31057721,4	K562	blood:
2	chr16:31054702..31056297-chr16:31084024..31085557,2	K562	blood:
3	chr16:31008264..31010102-chr16:31053957..31055799,2	MCF-7	breast:
4	chr16:30967392..30969268-chr16:31053446..31056130,2	MCF-7	breast:
5	chr16:31053220..31057176-chr16:31073803..31076480,4	MCF-7	breast:
6	chr16:31048921..31052492-chr16:31052504..31056345,6	MCF-7	breast:
7	chr16:31054525..31057827-chr16:31082936..31085986,4	MCF-7	breast:
8	chr16:31052766..31056260-chr16:31190387..31193096,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150603	1.00[AMR][1000 genomes]
rs4889529	0.82[AFR][1000 genomes]
rs4889613	0.82[AFR][1000 genomes]
rs6565215	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
7	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
8	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
11	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31045600-31055800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31046000-31071000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
4	chr16:31046200-31058200	Weak transcription	HUVEC	blood vessel
5	chr16:31046200-31063000	Weak transcription	Hela-S3	cervix
6	chr16:31046200-31063200	Weak transcription	HMEC	breast
7	chr16:31046800-31055800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:31048200-31063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:31048200-31063400	Weak transcription	K562	blood
10	chr16:31048200-31071400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:31048400-31061600	Weak transcription	NHDF-Ad	bronchial
12	chr16:31049000-31056200	Strong transcription	Left Ventricle	heart
13	chr16:31049600-31057600	Weak transcription	Stomach Mucosa	stomach
14	chr16:31049600-31075600	Weak transcription	Psoas Muscle	Psoas
15	chr16:31051000-31063200	Weak transcription	NH-A	brain
16	chr16:31051200-31071000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:31051400-31055400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
19	chr16:31052000-31071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
21	chr16:31052400-31074400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:31052600-31063600	Weak transcription	Small Intestine	intestine
23	chr16:31053600-31056200	Strong transcription	NHEK	skin
24	chr16:31053800-31072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:31054000-31056200	Weak transcription	Pancreas	Pancrea
26	chr16:31054000-31063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:31054000-31069200	Weak transcription	Fetal Brain Female	brain
28	chr16:31054000-31072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
30	chr16:31054200-31055600	Strong transcription	Placenta	Placenta
31	chr16:31054200-31055800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:31054200-31057800	Enhancers	HepG2	liver
33	chr16:31054200-31071000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:31054200-31076200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:31054400-31055400	Strong transcription	Brain Angular Gyrus	brain
36	chr16:31054400-31060800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:31054400-31071800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:31054400-31072000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:31054600-31055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:31054600-31060800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:31054600-31061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:31054600-31063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:31054600-31063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:31054600-31071600	Weak transcription	Dnd41	blood
45	chr16:31054600-31071800	Weak transcription	GM12878-XiMat	blood
46	chr16:31054600-31072000	Weak transcription	Esophagus	oesophagus
47	chr16:31054600-31072200	Weak transcription	Colonic Mucosa	Colon
48	chr16:31054800-31057200	Weak transcription	A549	lung
49	chr16:31054800-31059800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:31054800-31060600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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