Variant report

Variant	rs57716132
Chromosome Location	chr18:9114067-9114068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9113709-9114116	K562	blood:	n/a	n/a
2	POLR2A	chr18:9113610-9114183	GM12892	blood:	n/a	n/a
3	WRNIP1	chr18:9113893-9114144	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:9113725-9114144	K562	blood:	n/a	n/a
5	POLR2A	chr18:9113871-9114191	K562	blood:	n/a	n/a
6	POLR2A	chr18:9113726-9114190	K562	blood:	n/a	n/a
7	POLR2A	chr18:9113850-9114147	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:9113808-9114968	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
2	chr18:9109653..9114484-chr18:9134215..9138699,5	K562	blood:
3	chr18:9090749..9092578-chr18:9112344..9115016,2	MCF-7	breast:
4	chr18:9112428..9114978-chr18:9116573..9118985,2	MCF-7	breast:
5	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:

No data

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000266053	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17413344	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17497377	0.86[EUR][1000 genomes]
rs2377962	0.86[EUR][1000 genomes]
rs59983698	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72935229	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72935233	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935236	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935248	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935249	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935251	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935253	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72935258	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72935260	0.89[EUR][1000 genomes]
rs72935263	0.89[EUR][1000 genomes]
rs72935265	0.89[EUR][1000 genomes]
rs72935266	0.89[EUR][1000 genomes]
rs72935267	0.89[EUR][1000 genomes]
rs9675513	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
3	chr18:9104400-9117000	Weak transcription	Lung	lung
4	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:9106200-9116800	Weak transcription	Placenta	Placenta
6	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
7	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9107400-9116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9107600-9116400	Weak transcription	HMEC	breast
12	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
13	chr18:9107800-9114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr18:9107800-9116800	Enhancers	Primary B cells from peripheral blood	blood
15	chr18:9107800-9116800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
17	chr18:9108000-9114800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr18:9108000-9116600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr18:9108000-9117400	Weak transcription	Fetal Kidney	kidney
20	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
22	chr18:9109200-9116800	Weak transcription	Gastric	stomach
23	chr18:9109600-9117000	Weak transcription	Brain Germinal Matrix	brain
24	chr18:9109600-9117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:9109800-9115000	Weak transcription	HUVEC	blood vessel
27	chr18:9110000-9116600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr18:9110200-9116000	Weak transcription	NH-A	brain
29	chr18:9110200-9117400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:9110400-9115400	Weak transcription	Osteobl	bone
31	chr18:9110600-9116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:9110600-9118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:9110800-9116800	Weak transcription	Aorta	Aorta
34	chr18:9111200-9115800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9111200-9115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:9111200-9117400	Weak transcription	Fetal Intestine Large	intestine
37	chr18:9111200-9117600	Weak transcription	Fetal Lung	lung
38	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:9111600-9116800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:9111600-9116800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
42	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
43	chr18:9112000-9115400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:9112000-9115400	Weak transcription	A549	lung
45	chr18:9112000-9117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:9112400-9114800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr18:9112400-9116600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:9112400-9118400	Enhancers	Liver	Liver
49	chr18:9112600-9116800	Weak transcription	Fetal Thymus	thymus
50	chr18:9112800-9116600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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