Variant report

Variant	rs61048190
Chromosome Location	chr2:38754868-38754869
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38740787..38742664-chr2:38753203..38755236,2	MCF-7	breast:
2	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
3	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
4	chr2:38602800..38605061-chr2:38754455..38756764,2	K562	blood:
5	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
6	chr2:38753350..38754887-chr2:38758237..38760009,2	K562	blood:
7	chr2:38754284..38759029-chr2:38759211..38765156,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271443	Chromatin interaction
ENSG00000119787	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11894300	1.00[AMR][1000 genomes]
rs12105066	1.00[AMR][1000 genomes]
rs17023010	1.00[AMR][1000 genomes]
rs57091543	1.00[AMR][1000 genomes]
rs58185217	0.96[AFR][1000 genomes]
rs59492432	1.00[AMR][1000 genomes]
rs73929028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929083	1.00[AMR][1000 genomes]
rs73929101	1.00[AMR][1000 genomes]
rs73931607	1.00[AMR][1000 genomes]
rs7591739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7605576	0.93[AFR][1000 genomes];1.00[AMR][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	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
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
9	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:38752200-38755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:38752200-38755000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:38752200-38755000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:38752200-38755000	Weak transcription	Psoas Muscle	Psoas
14	chr2:38752200-38755200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:38752200-38755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:38752400-38755000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:38752400-38755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:38753400-38755000	Weak transcription	NHDF-Ad	bronchial
21	chr2:38753600-38755000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:38753800-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:38753800-38755000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:38753800-38755000	Weak transcription	Osteobl	bone
25	chr2:38753800-38755200	Weak transcription	Liver	Liver
26	chr2:38753800-38755200	Weak transcription	Ovary	ovary
27	chr2:38754400-38755000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:38754400-38755000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:38754600-38755000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr2:38754600-38755000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:38754600-38755000	Enhancers	A549	lung
32	chr2:38754600-38755000	Bivalent Enhancer	HepG2	liver
33	chr2:38754600-38755200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:38754600-38755200	Enhancers	NHLF	lung
35	chr2:38754800-38755000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:38754800-38755000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:38754800-38755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:38754800-38755200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:38754800-38755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:38754800-38755200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:38754800-38755200	Enhancers	Hela-S3	cervix
42	chr2:38754800-38755200	Enhancers	HMEC	breast

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