Variant report

Variant	rs12112419
Chromosome Location	chr7:50340021-50340022
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	SPI1	chr7:50339835-50340071	GM12891	blood:	n/a	chr7:50339920-50339929

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50339445..50341109-chr7:50341696..50344534,3	K562	blood:

Variant related genes	Relation type
IKZF1	TF binding region
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10081365	1.00[AMR][1000 genomes]
rs10248631	1.00[AMR][1000 genomes]
rs73698006	1.00[AMR][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers 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
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50325800-50343000	Weak transcription	K562	blood
2	chr7:50339000-50342600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:50339000-50343000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr7:50339200-50340800	Enhancers	Dnd41	blood
5	chr7:50339200-50342400	Enhancers	Primary T cells from cord blood	blood
6	chr7:50339200-50342600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:50339200-50342800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:50339200-50343000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:50339200-50343000	Enhancers	Fetal Thymus	thymus
10	chr7:50339400-50340400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:50339400-50342600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:50339600-50342800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:50339800-50340200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:50339800-50340600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:50339800-50340800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:50339800-50341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:50339800-50341400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:50340000-50340200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:50340000-50340200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:50340000-50340200	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:50340000-50340200	Enhancers	Lung	lung
22	chr7:50340000-50340400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:50340000-50340400	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:50340000-50340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:50340000-50340400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:50340000-50340800	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:50340000-50340800	Enhancers	Thymus	Thymus
28	chr7:50340000-50341200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:50340000-50341400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:50340000-50341400	Enhancers	GM12878-XiMat	blood

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