Variant report

Variant	rs548901396
Chromosome Location	chr12:7761385-7761386
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	POLR2A	chr12:7761038-7761518	A549	lung:	n/a	n/a
2	CTCF	chr12:7761327-7761398	Fibrobl	skin:	n/a	n/a

Variant related genes	Relation type
NIFKP3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv557270	chr12:7727544-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv468990	chr12:7729433-7801532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv557271	chr12:7729433-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv826213	chr12:7730932-7830644	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv468991	chr12:7756706-7821692	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468992	chr12:7756706-7821692	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv557272	chr12:7756706-7821692	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv521149	chr12:7756706-7836988	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898643	chr12:7760124-7794736	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv826214	chr12:7760127-7803262	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7758600-7762200	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:7759200-7762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:7759400-7763000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:7759400-7763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:7760000-7761800	Enhancers	HMEC	breast
6	chr12:7760200-7761800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:7760400-7762400	Enhancers	NHEK	skin
8	chr12:7760600-7762200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:7760800-7761600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:7760800-7761800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:7760800-7762600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:7760800-7763000	Enhancers	Thymus	Thymus
13	chr12:7761000-7761400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:7761000-7761400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:7761000-7761400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:7761000-7761400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:7761000-7761600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:7761000-7761600	Enhancers	Esophagus	oesophagus
19	chr12:7761000-7761600	Enhancers	Fetal Thymus	thymus
20	chr12:7761000-7761600	ZNF genes & repeats	Lung	lung

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