Variant report

Variant	rs73329265
Chromosome Location	chr12:67198603-67198604
allele	A/G
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	KAP1	chr12:67198364-67198913	U2OS	brain:	n/a	n/a
2	KAP1	chr12:67198378-67198886	HEK293	kidney:	n/a	n/a
3	POLR2A	chr12:67198267-67198882	H1-neurons	neurons:	n/a	n/a
4	MAX	chr12:67198417-67198704	H1-hESC	embryonic stem cell:	n/a	chr12:67198526-67198536

Variant related genes	Relation type
GRIP1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11835055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58486886	1.00[AMR][1000 genomes]
rs73329255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1047085	chr12:67052384-67199621	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1042117	chr12:67171949-67257435	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038689	chr12:67174430-67257435	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1044061	chr12:67178298-67257941	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67196200-67198800	Active TSS	Fetal Brain Female	brain
2	chr12:67196600-67198800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:67197400-67198800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:67197400-67198800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:67197400-67198800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:67197600-67198800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:67197600-67198800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:67197800-67198800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:67198000-67198800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:67198000-67198800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr12:67198000-67199000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:67198200-67198800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:67198200-67198800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:67198200-67199000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:67198200-67199000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:67198400-67198800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:67198400-67198800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:67198400-67198800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:67198400-67198800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
20	chr12:67198400-67199000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:67198600-67198800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:67198600-67198800	Enhancers	Brain Anterior Caudate	brain
23	chr12:67198600-67198800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr12:67198600-67198800	Enhancers	Fetal Brain Male	brain
25	chr12:67198600-67198800	Enhancers	Pancreas	Pancrea
26	chr12:67198600-67199000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:67198600-67199000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:67198600-67199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:67198600-67207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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