Variant report

Variant	rs71996314
Chromosome Location	chr1:221967594-221967595
allele	-/AC/CA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221959363..221962341-chr1:221966236..221967931,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv947161	chr1:221967491-221977571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221960400-221970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:221964600-221969200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:221966400-221967800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:221966400-221968200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:221966600-221967600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:221966600-221967600	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:221966600-221967800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221966600-221967800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:221966600-221967800	Enhancers	NH-A	brain
10	chr1:221966600-221967800	Enhancers	Osteobl	bone
11	chr1:221966600-221968200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:221966800-221967600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:221966800-221967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:221966800-221968200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:221967000-221968600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:221967200-221967600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:221967200-221967800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:221967200-221968000	Enhancers	HMEC	breast
19	chr1:221967200-221968200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:221967200-221968400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:221967200-221968600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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