Variant report

Variant	rs7193107
Chromosome Location	chr16:81476874-81476875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:81476581-81476894	GM12878	blood:	n/a	n/a
2	CREB1	chr16:81476420-81476951	HepG2	liver:	n/a	n/a
3	ZNF263	chr16:81476180-81477673	HEK293-T-REx	kidney:	n/a	n/a
4	EP300	chr16:81476457-81476921	GM12878	blood:	n/a	n/a
5	CEBPZ	chr16:81476866-81477001	HepG2	liver:	n/a	n/a
6	CREB1	chr16:81476433-81476968	HepG2	liver:	n/a	n/a
7	NR3C1	chr16:81476399-81476912	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:
2	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
3	chr16:81475472..81478406-chr16:81671837..81673759,2	MCF-7	breast:
4	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
5	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:

No data

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2317238	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs310007	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs310008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs310010	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60193157	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043925	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62043926	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9923364	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81471800-81477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr16:81472400-81477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:81473000-81477000	Weak transcription	Dnd41	blood
4	chr16:81474000-81477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:81474000-81477400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:81474400-81477600	Weak transcription	Right Atrium	heart
7	chr16:81474800-81477600	Weak transcription	Fetal Lung	lung
8	chr16:81474800-81477600	Weak transcription	Spleen	Spleen
9	chr16:81475000-81477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81475200-81477200	Weak transcription	NHEK	skin
11	chr16:81475200-81477400	Weak transcription	Ovary	ovary
12	chr16:81475200-81477600	Weak transcription	Esophagus	oesophagus
13	chr16:81475400-81477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:81475600-81477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:81475600-81477000	Bivalent Enhancer	HepG2	liver
16	chr16:81475600-81477400	Enhancers	HSMMtube	muscle
17	chr16:81475800-81477400	Weak transcription	Fetal Brain Female	brain
18	chr16:81475800-81477600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:81476000-81477600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:81476000-81477800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
23	chr16:81476200-81477600	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:81476200-81477600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr16:81476200-81477600	Enhancers	Brain Substantia Nigra	brain
26	chr16:81476200-81477600	Enhancers	Duodenum Mucosa	Duodenum
27	chr16:81476400-81477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81476400-81477000	Active TSS	Stomach Smooth Muscle	stomach
29	chr16:81476400-81477200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81476400-81477200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:81476400-81477400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:81476400-81477600	Enhancers	Primary B cells from peripheral blood	blood
33	chr16:81476400-81477600	Enhancers	Colonic Mucosa	Colon
34	chr16:81476400-81477600	Enhancers	Fetal Intestine Large	intestine
35	chr16:81476400-81477800	Flanking Active TSS	A549	lung
36	chr16:81476600-81477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:81476600-81477600	Enhancers	Fetal Thymus	thymus
38	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr16:81476800-81477000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr16:81476800-81477200	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:81476800-81477600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:81476800-81477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:81476800-81477600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:81476800-81477600	Enhancers	Fetal Intestine Small	intestine
45	chr16:81476800-81477600	Enhancers	Placenta	Placenta
46	chr16:81476800-81477600	Weak transcription	Thymus	Thymus
47	chr16:81476800-81477600	Enhancers	GM12878-XiMat	blood
48	chr16:81476800-81477800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links