Variant report

Variant	rs3768545
Chromosome Location	chr1:212866770-212866771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212866207..212868017-chr1:212869648..212871238,2	K562	blood:
2	chr1:212862725..212865648-chr1:212866510..212870807,5	K562	blood:
3	chr1:212781063..212783377-chr1:212866766..212869086,2	K562	blood:
4	chr1:212781063..212784148-chr1:212866766..212870183,3	K562	blood:
5	chr1:212865556..212867815-chr1:212870063..212872235,2	MCF-7	breast:
6	chr1:212857319..212860671-chr1:212865664..212868851,3	K562	blood:

Variant related genes	Relation type
ENSG00000123685	Chromatin interaction
ENSG00000207491	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12062708	0.92[ASN][1000 genomes]
rs73079814	0.84[ASN][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:212857200-212871600	Weak transcription	Dnd41	blood
4	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:212858600-212872200	Weak transcription	Gastric	stomach
6	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
7	chr1:212862600-212871600	Weak transcription	NHLF	lung
8	chr1:212863400-212868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
10	chr1:212863800-212867600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:212863800-212869600	Weak transcription	Placenta	Placenta
12	chr1:212864000-212867600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:212865200-212866800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:212865600-212871000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:212866000-212867000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:212866200-212866800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:212866200-212866800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:212866200-212866800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:212866200-212866800	Enhancers	HSMM	muscle
20	chr1:212866200-212866800	Enhancers	Osteobl	bone
21	chr1:212866200-212867000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:212866200-212867000	Enhancers	NHDF-Ad	bronchial
23	chr1:212866200-212867000	Enhancers	NHEK	skin
24	chr1:212866200-212869600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:212866400-212866800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:212866400-212866800	Enhancers	NH-A	brain
27	chr1:212866600-212866800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:212866600-212867000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:212866600-212870000	Weak transcription	GM12878-XiMat	blood

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