Variant report

Variant	rs72909212
Chromosome Location	chr18:44701678-44701679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
2	chr18:44675406..44678402-chr18:44700257..44702641,2	K562	blood:
3	chr18:44693298..44695901-chr18:44700902..44702609,2	K562	blood:
4	chr18:44676902..44678518-chr18:44699803..44701757,2	K562	blood:
5	chr18:44675848..44678361-chr18:44699497..44704011,6	MCF-7	breast:
6	chr18:44495357..44497403-chr18:44700842..44702618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55682632	1.00[AFR][1000 genomes]
rs55687418	1.00[ASN][1000 genomes]
rs55698938	1.00[ASN][1000 genomes]
rs55813572	1.00[ASN][1000 genomes]
rs55825078	1.00[ASN][1000 genomes]
rs55840418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55892143	1.00[ASN][1000 genomes]
rs55916944	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56077098	1.00[ASN][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109704	1.00[ASN][1000 genomes]
rs56132373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56272937	1.00[AFR][1000 genomes]
rs56287570	1.00[ASN][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58684150	1.00[ASN][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66485937	1.00[ASN][1000 genomes]
rs66914705	1.00[ASN][1000 genomes]
rs67119810	1.00[ASN][1000 genomes]
rs67123015	1.00[ASN][1000 genomes]
rs67514853	1.00[ASN][1000 genomes]
rs67822267	1.00[ASN][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903245	1.00[AMR][1000 genomes]
rs72903247	1.00[AMR][1000 genomes]
rs72903249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72907240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908572	1.00[ASN][1000 genomes]
rs72908575	1.00[ASN][1000 genomes]
rs72908588	1.00[ASN][1000 genomes]
rs72909204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72910504	1.00[ASN][1000 genomes]
rs72910505	1.00[ASN][1000 genomes]
rs72910507	1.00[ASN][1000 genomes]
rs72910512	1.00[ASN][1000 genomes]
rs72910513	1.00[ASN][1000 genomes]
rs72910516	1.00[ASN][1000 genomes]
rs72910538	1.00[ASN][1000 genomes]
rs72910544	1.00[ASN][1000 genomes]
rs72910547	1.00[ASN][1000 genomes]
rs72910552	1.00[ASN][1000 genomes]
rs72910554	1.00[ASN][1000 genomes]
rs72911203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72911205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72911207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72912419	1.00[ASN][1000 genomes]
rs72912427	1.00[ASN][1000 genomes]
rs72912445	1.00[ASN][1000 genomes]
rs72912456	1.00[ASN][1000 genomes]
rs72913164	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72913166	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72913186	1.00[AFR][1000 genomes]
rs72913187	1.00[AFR][1000 genomes]
rs72914811	1.00[AFR][1000 genomes]
rs72914843	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919289	1.00[AMR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
2	chr18:44688200-44702200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:44693800-44701800	Weak transcription	Gastric	stomach
4	chr18:44700000-44701800	Enhancers	Primary B cells from peripheral blood	blood
5	chr18:44700400-44702000	Enhancers	Spleen	Spleen
6	chr18:44700600-44701800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:44700800-44703000	Active TSS	Colonic Mucosa	Colon
8	chr18:44701000-44701800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr18:44701000-44701800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:44701000-44701800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:44701000-44701800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr18:44701000-44701800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr18:44701000-44701800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:44701000-44701800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr18:44701000-44701800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr18:44701000-44701800	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr18:44701000-44701800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr18:44701000-44701800	Flanking Active TSS	Fetal Lung	lung
19	chr18:44701000-44701800	Flanking Active TSS	Fetal Stomach	stomach
20	chr18:44701000-44701800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr18:44701000-44701800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr18:44701000-44701800	Flanking Active TSS	Dnd41	blood
23	chr18:44701000-44701800	Flanking Active TSS	Hela-S3	cervix
24	chr18:44701000-44701800	Flanking Active TSS	HMEC	breast
25	chr18:44701000-44701800	Flanking Active TSS	NHEK	skin
26	chr18:44701000-44701800	Flanking Active TSS	Osteobl	bone
27	chr18:44701000-44702000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:44701000-44702000	Flanking Active TSS	Liver	Liver
29	chr18:44701000-44702000	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr18:44701000-44702000	Flanking Active TSS	Fetal Brain Male	brain
31	chr18:44701000-44702000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr18:44701000-44702000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr18:44701000-44702000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr18:44701000-44702200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr18:44701000-44702800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:44701000-44703000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:44701200-44701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:44701200-44701800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:44701200-44701800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:44701200-44701800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr18:44701200-44701800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr18:44701200-44701800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:44701200-44701800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr18:44701200-44701800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:44701200-44701800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr18:44701200-44701800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr18:44701200-44701800	Flanking Active TSS	K562	blood
48	chr18:44701200-44702000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr18:44701200-44702000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr18:44701200-44702000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links