Variant report

Variant	rs2328507
Chromosome Location	chr6:143959271-143959272
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	chr6:143959010..143961710-chr6:144384199..144386723,2	K562	blood:
2	chr6:143958411..143960649-chr6:143968320..143970149,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12192270	0.89[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12193892	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12197559	0.82[CHB][hapmap]
rs12197980	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12199447	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12524707	0.94[CHD][hapmap]
rs12524982	0.90[CHB][hapmap]
rs12525974	0.90[CHB][hapmap]
rs12527275	0.90[CHB][hapmap]
rs12530178	0.90[CHB][hapmap]
rs13191026	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs13192672	0.90[CHB][hapmap]
rs13194278	0.90[CHB][hapmap]
rs13195900	0.90[EUR][1000 genomes]
rs13199178	0.82[EUR][1000 genomes]
rs13214196	0.80[CHB][hapmap]
rs1338535	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs1539333	0.95[EUR][1000 genomes]
rs17291151	0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs1884172	0.90[CHB][hapmap]
rs2328506	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34196129	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34775537	0.82[EUR][1000 genomes]
rs35286147	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296418	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4424099	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56392216	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67470559	0.92[EUR][1000 genomes]
rs6911970	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6932482	0.80[CHB][hapmap]
rs7744358	0.90[CHB][hapmap]
rs7745970	0.90[EUR][1000 genomes]
rs7757372	0.89[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7760627	0.90[CHB][hapmap]
rs9484792	0.90[CHB][hapmap]
rs9496699	0.89[CEU][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv517253	chr6:143953672-143975157	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv7973	chr6:143956245-143960024	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv33992	chr6:143957777-143966636	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2328507	LTV1	cis	Heart Left Ventricle	GTEx
rs2328507	AIG1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:143955800-143967200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:143956000-143963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:143956000-143965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:143956000-143967600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:143956000-143973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:143956600-143960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:143958800-143960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:143959000-143965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:143959000-143968800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:143959000-143978400	Weak transcription	Left Ventricle	heart
13	chr6:143959200-143964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:143959200-143973800	Weak transcription	Right Atrium	heart

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