Variant report

Variant	rs4681616
Chromosome Location	chr3:150119088-150119089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150114227..150116746-chr3:150117310..150120155,2	MCF-7	breast:
2	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
3	chr3:150106597..150108480-chr3:150117150..150119667,2	K562	blood:
4	chr3:150103838..150106691-chr3:150117880..150119518,2	MCF-7	breast:
5	chr3:150117469..150119974-chr3:150126644..150129138,2	K562	blood:
6	chr3:150108811..150111187-chr3:150116548..150119343,3	MCF-7	breast:
7	chr3:150088730..150091158-chr3:150119055..150121644,3	MCF-7	breast:
8	chr3:150111999..150114822-chr3:150116151..150119153,3	K562	blood:
9	chr19:13263561..13266336-chr3:150119005..150120983,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction
ENSG00000267598	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10513373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513374	0.84[ASN][1000 genomes]
rs10935800	0.84[ASN][1000 genomes]
rs11711035	0.82[ASN][1000 genomes]
rs11719977	0.81[ASN][1000 genomes]
rs12638309	0.84[ASN][1000 genomes]
rs12639090	0.83[ASN][1000 genomes]
rs13081231	0.84[ASN][1000 genomes]
rs13099758	0.80[ASN][1000 genomes]
rs13321876	0.84[ASN][1000 genomes]
rs16862627	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862644	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16862676	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4488863	0.84[ASN][1000 genomes]
rs4681203	0.84[ASN][1000 genomes]
rs4681204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681205	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681206	0.82[ASN][1000 genomes]
rs4681207	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681617	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4681618	0.83[ASN][1000 genomes]
rs58628422	0.84[ASN][1000 genomes]
rs59793956	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61483057	0.83[ASN][1000 genomes]
rs67319423	0.84[ASN][1000 genomes]
rs6784048	0.84[ASN][1000 genomes]
rs6792734	0.82[ASN][1000 genomes]
rs6795124	0.82[ASN][1000 genomes]
rs73163692	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73165707	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784335	0.82[ASN][1000 genomes]
rs9826729	0.84[ASN][1000 genomes]
rs9865031	0.85[ASN][1000 genomes]
rs9882777	0.81[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150109600-150121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:150117200-150120600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:150117400-150121400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:150117400-150121600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:150118600-150119600	Enhancers	Fetal Intestine Large	intestine
13	chr3:150118800-150119600	Enhancers	Fetal Intestine Small	intestine
14	chr3:150119000-150119400	Enhancers	Stomach Mucosa	stomach

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