Variant report

Variant	rs60028272
Chromosome Location	chr1:212806168-212806169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212803388..212806406-chr1:212807371..212811389,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BATF3-2	chr1:212805714-212810008	XLOC_001195

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11571524	1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs58475088	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088535	1.00[AMR][1000 genomes]
rs73088538	1.00[AMR][1000 genomes]
rs73088542	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212793600-212810600	Weak transcription	Esophagus	oesophagus
2	chr1:212794400-212812200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
4	chr1:212803200-212808200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:212803400-212807600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:212803400-212807800	Weak transcription	Osteobl	bone
7	chr1:212803600-212807800	Weak transcription	Fetal Intestine Large	intestine
8	chr1:212803600-212808200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:212803800-212808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:212803800-212808800	Weak transcription	Left Ventricle	heart
11	chr1:212803800-212808800	Weak transcription	Right Atrium	heart
12	chr1:212803800-212808800	Weak transcription	Right Ventricle	heart
13	chr1:212804000-212807800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:212804000-212808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:212804200-212806600	Weak transcription	GM12878-XiMat	blood
16	chr1:212804200-212808600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:212804400-212808200	Weak transcription	Thymus	Thymus
18	chr1:212804400-212808200	Weak transcription	Spleen	Spleen
19	chr1:212804600-212808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:212804800-212807800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:212804800-212807800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:212805000-212806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:212805000-212807800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:212805000-212810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:212805600-212806400	Weak transcription	Primary hematopoietic stem cells	blood

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