Variant report

Variant	rs2033965
Chromosome Location	chr2:182618853-182618854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182616188..182619083-chr2:182775536..182777144,2	MCF-7	breast:
2	chr2:182617097..182619392-chr2:182762645..182765176,2	MCF-7	breast:
3	chr2:182617147..182619189-chr2:182727764..182729918,2	MCF-7	breast:
4	chr2:182618261..182620386-chr2:182720885..182723855,2	MCF-7	breast:
5	chr2:182618753..182621318-chr2:182622765..182624957,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13428784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1441161	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61655655	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7572564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182612800-182619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182615600-182620200	Enhancers	Hela-S3	cervix
3	chr2:182616600-182619400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:182616600-182619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:182616800-182619200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:182616800-182619200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:182616800-182619400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:182616800-182619400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:182616800-182631000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:182617600-182619200	Enhancers	Placenta	Placenta
11	chr2:182617600-182625000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:182618400-182619200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:182618400-182619200	Enhancers	Brain Substantia Nigra	brain
14	chr2:182618400-182619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:182618600-182619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:182618600-182619000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:182618600-182619000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:182618600-182619000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:182618600-182619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:182618600-182619000	Weak transcription	Stomach Mucosa	stomach
21	chr2:182618800-182619200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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