Variant report

Variant	rs58131305
Chromosome Location	chr7:66777809-66777810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66777734-66778599	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:66777763-66778425	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:66777751-66778051	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66772821..66775024-chr7:66777630..66779401,2	K562	blood:

Variant related genes	Relation type
ENSG00000228019	TF binding region
ENSG00000228019	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12537527	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12537772	0.81[AMR][1000 genomes]
rs17140742	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2277021	0.81[AMR][1000 genomes]
rs41533347	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58757717	0.81[AMR][1000 genomes]
rs59852655	0.91[ASN][1000 genomes]
rs62466389	0.84[ASN][1000 genomes]
rs62466392	0.95[ASN][1000 genomes]
rs62466393	0.95[ASN][1000 genomes]
rs62466395	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62466398	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62466401	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62466404	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62466433	0.82[EUR][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58131305	FLJ13195	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66767800-66780800	Weak transcription	Fetal Brain Male	brain
2	chr7:66768600-66782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:66768800-66783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:66768800-66783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66769000-66781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:66769000-66785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:66769400-66782800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:66769400-66783400	Strong transcription	Primary T cells from cord blood	blood
9	chr7:66769400-66785000	Strong transcription	Fetal Stomach	stomach
10	chr7:66769400-66785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:66770000-66782800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:66770000-66783000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr7:66770000-66783400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:66770000-66785400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr7:66770200-66780600	Strong transcription	Brain Hippocampus Middle	brain
16	chr7:66770200-66783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:66770200-66785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:66770400-66783400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:66770400-66783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:66770400-66783600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:66770400-66786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66770400-66786800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:66770600-66780400	Strong transcription	Fetal Thymus	thymus
24	chr7:66770600-66782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:66770600-66785200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:66770600-66785400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:66770600-66786400	Weak transcription	Fetal Heart	heart
28	chr7:66770800-66778400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:66770800-66780200	Strong transcription	HepG2	liver
30	chr7:66770800-66780400	Strong transcription	A549	lung
31	chr7:66770800-66783400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:66770800-66786800	Strong transcription	Liver	Liver
33	chr7:66771000-66785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:66771200-66781800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:66771200-66785000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:66771200-66785000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:66771400-66778200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:66771400-66778600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr7:66771400-66779000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr7:66771400-66781600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:66771400-66781600	Strong transcription	Placenta	Placenta
42	chr7:66771400-66783000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:66771400-66785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:66771600-66778000	Strong transcription	Hela-S3	cervix
45	chr7:66771600-66780400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:66771600-66780400	Strong transcription	GM12878-XiMat	blood
47	chr7:66771600-66783000	Strong transcription	Left Ventricle	heart
48	chr7:66771800-66783400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:66771800-66786000	Strong transcription	Fetal Intestine Large	intestine
50	chr7:66771800-66786200	Strong transcription	Rectal Mucosa Donor 29	rectum

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