Variant report

Variant	rs74015042
Chromosome Location	chr16:30762417-30762418
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	POLR2A	chr16:30762399-30762436	K562	blood:	n/a	n/a
2	POLR2A	chr16:30762116-30762558	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
2	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:

Variant related genes	Relation type
PHKG2	TF binding region
ENSG00000080603	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261840	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55764844	1.00[AMR][1000 genomes]
rs55794634	1.00[AMR][1000 genomes]
rs56371701	1.00[AMR][1000 genomes]
rs59674151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs74015052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	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
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	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
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30760000-30772400	Weak transcription	Stomach Mucosa	stomach
2	chr16:30760200-30763800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:30760200-30764600	Weak transcription	Aorta	Aorta
4	chr16:30760200-30772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:30760400-30762600	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:30760400-30762600	Weak transcription	HSMMtube	muscle
7	chr16:30760400-30764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:30760400-30772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:30760400-30772200	Weak transcription	Fetal Heart	heart
10	chr16:30760400-30772200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:30760400-30772200	Weak transcription	Small Intestine	intestine
12	chr16:30760600-30762600	Weak transcription	Fetal Intestine Large	intestine
13	chr16:30760600-30762600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:30760600-30772200	Weak transcription	Psoas Muscle	Psoas
15	chr16:30760600-30772600	Weak transcription	Right Atrium	heart
16	chr16:30760800-30764000	Weak transcription	Fetal Kidney	kidney
17	chr16:30760800-30771200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:30761000-30766000	Weak transcription	Fetal Brain Male	brain
19	chr16:30761000-30769200	Strong transcription	Primary T cells from cord blood	blood
20	chr16:30761000-30769400	Strong transcription	NHEK	skin
21	chr16:30761000-30769400	Strong transcription	Osteobl	bone
22	chr16:30761000-30772000	Strong transcription	Fetal Intestine Small	intestine
23	chr16:30761200-30762600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr16:30761200-30763200	Strong transcription	A549	lung
25	chr16:30761200-30763400	Strong transcription	HSMM	muscle
26	chr16:30761200-30766800	Strong transcription	NH-A	brain
27	chr16:30761200-30769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:30761200-30769400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:30761200-30771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:30761200-30771200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr16:30761200-30771400	Strong transcription	Fetal Stomach	stomach
32	chr16:30761200-30771600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:30761200-30771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:30761200-30771800	Strong transcription	NHLF	lung
35	chr16:30761200-30772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:30761200-30772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:30761400-30763000	Strong transcription	K562	blood
38	chr16:30761400-30768800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr16:30761400-30769000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:30761400-30769000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:30761400-30769000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr16:30761400-30770000	Strong transcription	Placenta	Placenta
43	chr16:30761400-30771200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:30761400-30771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:30761400-30771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:30761400-30772000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:30761600-30763200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:30761600-30765800	Strong transcription	Colonic Mucosa	Colon
49	chr16:30761600-30766200	Strong transcription	Fetal Lung	lung
50	chr16:30761600-30768600	Strong transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links