Variant report

Variant	rs2187673
Chromosome Location	chr3:46428417-46428418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46130909..46132770-chr3:46427115..46429449,2	K562	blood:
2	chr3:46427138..46428924-chr3:46441384..46443422,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575815	0.86[ASN][1000 genomes]
rs11575816	0.86[ASN][1000 genomes]
rs1799987	0.85[ASN][1000 genomes]
rs1799988	0.90[ASN][1000 genomes]
rs3087252	0.86[ASN][1000 genomes]
rs3181039	0.86[ASN][1000 genomes]
rs34682274	0.86[ASN][1000 genomes]
rs35060576	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683220	0.86[ASN][1000 genomes]
rs4683222	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746492	0.94[ASN][1000 genomes]
rs916091	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46422200-46435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
3	chr3:46422600-46435200	Weak transcription	Right Atrium	heart
4	chr3:46422800-46429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:46424400-46428800	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:46425200-46435600	Weak transcription	Lung	lung
7	chr3:46425400-46428800	Weak transcription	Placenta	Placenta
8	chr3:46425400-46441800	Weak transcription	Stomach Mucosa	stomach
9	chr3:46425800-46429400	Enhancers	Dnd41	blood
10	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:46426600-46435200	Weak transcription	Spleen	Spleen
12	chr3:46426600-46435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:46427000-46428800	Enhancers	HMEC	breast
14	chr3:46427400-46428800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:46427400-46429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:46427600-46429000	Enhancers	Hela-S3	cervix
17	chr3:46428000-46434400	Weak transcription	Adipose Nuclei	Adipose
18	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
19	chr3:46428200-46428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:46428200-46428800	Enhancers	NHEK	skin
21	chr3:46428200-46429800	Weak transcription	Esophagus	oesophagus
22	chr3:46428200-46431400	Weak transcription	Fetal Intestine Large	intestine
23	chr3:46428400-46428800	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links