Variant report

Variant	rs7595221
Chromosome Location	chr2:11896975-11896976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11885383..11891655-chr2:11894666..11900002,13	K562	blood:
2	chr2:11892034..11894418-chr2:11895630..11897983,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1006538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10169802	0.94[ASN][1000 genomes]
rs10192566	0.94[ASN][1000 genomes]
rs10205312	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10205400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10207506	0.93[ASN][1000 genomes]
rs10208679	0.93[ASN][1000 genomes]
rs10209969	0.97[ASN][1000 genomes]
rs11676086	0.93[ASN][1000 genomes]
rs11693809	0.94[ASN][1000 genomes]
rs11897144	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13407101	0.99[ASN][1000 genomes]
rs13409154	0.93[ASN][1000 genomes]
rs13412852	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1469952	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17603420	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2099597	0.81[ASN][1000 genomes]
rs2278513	0.88[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2358041	0.95[ASN][1000 genomes]
rs2358042	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2358126	0.82[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs4076055	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4129757	0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4315495	0.93[ASN][1000 genomes]
rs4669778	0.89[CHD][hapmap]
rs62113306	0.91[ASN][1000 genomes]
rs6717910	0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6731096	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6757892	0.82[ASN][1000 genomes]
rs72773994	0.97[ASN][1000 genomes]
rs7561070	0.82[ASN][1000 genomes]
rs7607755	0.82[ASN][1000 genomes]
rs873358	0.93[ASN][1000 genomes]
rs893342	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7595221	LPIN1	cis	parietal	SCAN
rs7595221	LPIN1	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
3	chr2:11890600-11898600	Weak transcription	HepG2	liver
4	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:11891400-11897400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:11891400-11903000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11893800-11906400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:11894200-11903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11894400-11898200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:11894400-11899000	Weak transcription	Placenta	Placenta
11	chr2:11894600-11898800	Weak transcription	Fetal Heart	heart
12	chr2:11894600-11899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:11894600-11899400	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:11894600-11899400	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:11894600-11904600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:11894800-11897600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:11894800-11897800	Enhancers	Primary B cells from cord blood	blood
18	chr2:11894800-11898200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:11894800-11899200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:11894800-11899200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:11894800-11899400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:11894800-11903000	Weak transcription	Aorta	Aorta
23	chr2:11894800-11903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:11895000-11897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:11895000-11897000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:11895000-11897000	Weak transcription	Primary T cells from cord blood	blood
27	chr2:11895000-11897000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:11895000-11897200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:11895000-11897200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:11895000-11897200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:11895000-11897200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:11895000-11897200	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:11895000-11897200	Weak transcription	NHEK	skin
34	chr2:11895000-11897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:11895000-11897400	Weak transcription	Thymus	Thymus
36	chr2:11895000-11897800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:11895000-11898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:11895000-11898000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:11895000-11898200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:11895000-11898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:11895000-11898800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:11895000-11898800	Weak transcription	Ovary	ovary
43	chr2:11895000-11899000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:11895000-11899200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:11895000-11899200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:11895000-11901000	Weak transcription	A549	lung
47	chr2:11895000-11901400	Weak transcription	Brain Anterior Caudate	brain
48	chr2:11895000-11902000	Weak transcription	Left Ventricle	heart
49	chr2:11895000-11902200	Weak transcription	NHLF	lung
50	chr2:11895000-11902600	Weak transcription	Right Ventricle	heart

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