Variant report

Variant	rs3821719
Chromosome Location	chr3:154863088-154863089
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	chr3:154861149..154864650-chr3:154867267..154870197,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10513470	0.86[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1436635	0.86[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs16824574	0.81[YRI][hapmap]
rs16824591	0.81[YRI][hapmap]
rs17384425	0.83[EUR][1000 genomes]
rs3773884	0.87[EUR][1000 genomes]
rs3773886	0.87[EUR][1000 genomes]
rs3773889	0.85[EUR][1000 genomes]
rs6799300	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv877677	chr3:154832222-154901205	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1000753	chr3:154848433-155207022	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv536773	chr3:154848433-155207022	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv877678	chr3:154860908-154894805	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3821719	RSRC1	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154824200-154884400	Weak transcription	Psoas Muscle	Psoas
2	chr3:154828200-154867400	Weak transcription	Fetal Lung	lung
3	chr3:154833800-154869800	Weak transcription	Thymus	Thymus
4	chr3:154837200-154903200	Weak transcription	NHLF	lung
5	chr3:154843400-154899800	Strong transcription	Dnd41	blood
6	chr3:154849600-154867400	Weak transcription	HSMMtube	muscle
7	chr3:154849800-154890200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:154850000-154866600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:154850000-154871000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:154850600-154876000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:154853600-154901600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:154854200-154881600	Strong transcription	NHDF-Ad	bronchial
13	chr3:154854600-154890000	Weak transcription	Fetal Thymus	thymus
14	chr3:154855200-154868000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:154855200-154873200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:154856000-154867400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:154856400-154870400	Strong transcription	HSMM	muscle
18	chr3:154857200-154867200	Weak transcription	Fetal Kidney	kidney
19	chr3:154858400-154872000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:154859000-154872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:154859200-154905800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:154859800-154863400	Strong transcription	Adipose Nuclei	Adipose
23	chr3:154859800-154863800	Strong transcription	Liver	Liver
24	chr3:154860000-154891200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:154861200-154870800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:154861600-154864400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:154861600-154865400	Weak transcription	Left Ventricle	heart
28	chr3:154861800-154867200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:154862400-154863200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:154862400-154863200	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:154862600-154863400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:154862600-154864000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:154862600-154864000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:154862600-154866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:154862800-154863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:154862800-154863400	Genic enhancers	Fetal Intestine Large	intestine
37	chr3:154862800-154863600	Genic enhancers	Fetal Intestine Small	intestine
38	chr3:154862800-154863800	Enhancers	Small Intestine	intestine
39	chr3:154863000-154863200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:154863000-154863800	Strong transcription	Primary B cells from cord blood	blood
41	chr3:154863000-154865200	Weak transcription	Placenta	Placenta

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