Variant report

Variant	rs73397881
Chromosome Location	chr18:11751325-11751326
allele	C/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	MAX	chr18:11751190-11752028	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461 chr18:11751854-11751864
2	MAX	chr18:11751178-11752023	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461 chr18:11751854-11751864
3	MAX	chr18:11751303-11751700	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461
4	POLR2A	chr18:11751236-11751342	Gliobla	brain:	n/a	n/a
5	CTCF	chr18:11751260-11751410	HCPEpiC	choroid plexus:	n/a	n/a
6	E2F6	chr18:11751158-11751816	H1-hESC	embryonic stem cell:	n/a	chr18:11751307-11751322
7	E2F6	chr18:11751164-11752869	H1-hESC	embryonic stem cell:	n/a	chr18:11752011-11752020 chr18:11751307-11751322

Variant related genes	Relation type
GNAL	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13380905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60769119	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60956367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237586	0.83[EUR][1000 genomes]
rs73397871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397890	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397900	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945241	0.83[EUR][1000 genomes]
rs9947140	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11750600-11751400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr18:11751000-11751400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:11751000-11751600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:11751000-11751800	Enhancers	Gastric	stomach
5	chr18:11751000-11753200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr18:11751200-11751400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr18:11751200-11751400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr18:11751200-11751400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:11751200-11751400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr18:11751200-11751400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr18:11751200-11751400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr18:11751200-11751400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:11751200-11751400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:11751200-11751400	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr18:11751200-11751400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr18:11751200-11751400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr18:11751200-11751600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:11751200-11751600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr18:11751200-11751600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr18:11751200-11751600	Enhancers	Esophagus	oesophagus
21	chr18:11751200-11751600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr18:11751200-11751600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr18:11751200-11751600	Enhancers	Right Ventricle	heart
24	chr18:11751200-11751600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr18:11751200-11751800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr18:11751200-11752000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr18:11751200-11752000	Enhancers	Pancreas	Pancrea
28	chr18:11751200-11752200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr18:11751200-11752200	Enhancers	Fetal Brain Male	brain
30	chr18:11751200-11752200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr18:11751200-11752200	Enhancers	Spleen	Spleen
32	chr18:11751200-11752400	Bivalent Enhancer	Lung	lung
33	chr18:11751200-11752800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr18:11751200-11752800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:11751200-11753000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr18:11751200-11753200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr18:11751200-11753200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr18:11751200-11753200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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