Variant report

Variant	rs12622080
Chromosome Location	chr2:168193242-168193243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10497319	1.00[EUR][1000 genomes]
rs12612401	1.00[EUR][1000 genomes]
rs12619545	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12620446	1.00[EUR][1000 genomes]
rs12621191	1.00[EUR][1000 genomes]
rs16853054	1.00[EUR][1000 genomes]
rs16853083	1.00[EUR][1000 genomes]
rs28562247	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59955159	1.00[EUR][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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168187600-168194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168189000-168194800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:168189200-168194000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:168189200-168194400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:168189200-168194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:168190200-168193400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:168190400-168193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:168191200-168194400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:168192000-168193600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:168192000-168194000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:168192000-168194200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:168192000-168194400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:168192200-168193600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:168192200-168194400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:168192400-168193600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:168192600-168194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:168192800-168193800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:168192800-168194600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:168193200-168193400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:168193200-168194200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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