Variant report

Variant	rs9959437
Chromosome Location	chr18:12995471-12995472
allele	A/G
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	CBX3	chr18:12995377-12995892	K562	blood:	n/a	n/a
2	POLR2A	chr18:12995464-12995647	K562	blood:	n/a	n/a
3	ZNF143	chr18:12995469-12996497	GM12878	blood:	n/a	n/a
4	KAP1	chr18:12995428-12995812	K562	blood:	n/a	n/a
5	CBX3	chr18:12995357-12995871	K562	blood:	n/a	n/a
6	ZNF143	chr18:12995434-12995806	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12989490..12992525-chr18:12992706..12997077,5	MCF-7	breast:
2	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
3	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:

Variant related genes	Relation type
ENSG00000266969	TF binding region
ENSG00000266969	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11873391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11876347	0.89[AFR][1000 genomes]
rs11876742	0.89[AFR][1000 genomes]
rs28377612	0.89[AFR][1000 genomes]
rs28613155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622491	0.89[AFR][1000 genomes]
rs28735037	0.89[AFR][1000 genomes]
rs28794612	0.89[AFR][1000 genomes]
rs34337672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58586405	0.89[AFR][1000 genomes]
rs61466343	0.89[AFR][1000 genomes]
rs7227681	0.89[AFR][1000 genomes]
rs7241755	0.89[AFR][1000 genomes]
rs7244672	0.89[AFR][1000 genomes]
rs8085224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8095026	0.89[AFR][1000 genomes]
rs8099005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9959303	0.89[AFR][1000 genomes]
rs9963178	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9966473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992000-13000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:12992000-13004400	Weak transcription	Esophagus	oesophagus
3	chr18:12992200-13004800	Weak transcription	Aorta	Aorta
4	chr18:12992400-13000400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:12992400-13000600	Weak transcription	Placenta	Placenta
6	chr18:12992400-13004400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:12992600-13000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:12992800-12996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr18:12992800-12996400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:12992800-12997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:12992800-13004000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
14	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
16	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:12993000-12996400	Weak transcription	Brain Anterior Caudate	brain
18	chr18:12993000-12997000	Enhancers	HepG2	liver
19	chr18:12993000-13001400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:12993000-13006400	Weak transcription	Fetal Brain Female	brain
21	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr18:12993200-12995800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr18:12993200-12996400	Weak transcription	Brain Hippocampus Middle	brain
24	chr18:12993200-13000200	Weak transcription	HSMM	muscle
25	chr18:12993200-13000400	Weak transcription	Adipose Nuclei	Adipose
26	chr18:12993200-13001000	Weak transcription	Fetal Intestine Large	intestine
27	chr18:12993200-13001200	Weak transcription	A549	lung
28	chr18:12993200-13004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12993200-13004800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr18:12993200-13006800	Weak transcription	HSMMtube	muscle
31	chr18:12993200-13007000	Weak transcription	Brain Substantia Nigra	brain
32	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:12993200-13008400	Weak transcription	Osteobl	bone
34	chr18:12993200-13008800	Weak transcription	NHLF	lung
35	chr18:12993400-12995600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:12993400-12998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:12993400-12998400	Weak transcription	Fetal Lung	lung
38	chr18:12993400-12999400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr18:12993400-12999400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:12993400-12999600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:12993400-13000200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:12993400-13000200	Weak transcription	Liver	Liver
43	chr18:12993400-13000200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:12993400-13000200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:12993400-13000600	Weak transcription	Fetal Stomach	stomach
46	chr18:12993400-13000800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:12993400-13003000	Weak transcription	Fetal Muscle Leg	muscle
48	chr18:12993400-13003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:12993400-13006200	Weak transcription	NH-A	brain
50	chr18:12993400-13006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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