Variant report

Variant	rs73929027
Chromosome Location	chr2:38752022-38752023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38751112..38753312-chr2:38768692..38771301,2	K562	blood:
2	chr2:38747817..38750045-chr2:38750359..38752178,2	K562	blood:
3	chr2:38751052..38753238-chr2:38767165..38769647,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56218469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732384	0.83[AMR][1000 genomes]
rs73929025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929059	0.83[AMR][1000 genomes]
rs73931076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931077	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73931078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931606	0.83[AMR][1000 genomes]
rs7579589	0.83[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:38749800-38752200	Enhancers	Psoas Muscle	Psoas
3	chr2:38750000-38752200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:38750200-38752200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:38750200-38752400	Bivalent Enhancer	HepG2	liver
6	chr2:38750600-38753400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:38750800-38752200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:38750800-38752400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:38750800-38752400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:38751000-38752200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:38751000-38753000	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:38751400-38752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:38751600-38752200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:38751600-38752200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:38751600-38752200	Enhancers	Primary B cells from cord blood	blood
23	chr2:38751600-38752400	Enhancers	Ovary	ovary
24	chr2:38751600-38753200	Enhancers	Adipose Nuclei	Adipose
25	chr2:38751800-38752200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr2:38751800-38752200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:38751800-38752400	Enhancers	Fetal Intestine Small	intestine
28	chr2:38751800-38754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
30	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:38752000-38752200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:38752000-38752200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:38752000-38752200	Enhancers	Fetal Muscle Trunk	muscle

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