Variant report

Variant	rs56412520
Chromosome Location	chr1:212808004-212808005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212806678..212809616-chr1:212824409..212825963,2	MCF-7	breast:
2	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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12059590	1.00[EUR][1000 genomes]
rs12069714	1.00[EUR][1000 genomes]
rs12075398	1.00[EUR][1000 genomes]
rs12075971	1.00[EUR][1000 genomes]
rs17019510	1.00[EUR][1000 genomes]
rs59478106	1.00[EUR][1000 genomes]
rs60292092	1.00[EUR][1000 genomes]
rs73077780	1.00[EUR][1000 genomes]
rs73077781	1.00[EUR][1000 genomes]
rs73077794	1.00[EUR][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:39 , 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	chr1:212803600-212808200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:212803800-212808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:212803800-212808800	Weak transcription	Left Ventricle	heart
8	chr1:212803800-212808800	Weak transcription	Right Atrium	heart
9	chr1:212803800-212808800	Weak transcription	Right Ventricle	heart
10	chr1:212804000-212808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:212804200-212808600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:212804400-212808200	Weak transcription	Thymus	Thymus
13	chr1:212804400-212808200	Weak transcription	Spleen	Spleen
14	chr1:212804600-212808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:212805000-212810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:212806400-212808400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:212806400-212808600	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:212806600-212808600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:212806800-212808200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:212807200-212808400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:212807200-212809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:212807600-212808200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:212807600-212808200	ZNF genes & repeats	GM12878-XiMat	blood
24	chr1:212807800-212808200	Weak transcription	Adipose Nuclei	Adipose
25	chr1:212807800-212808200	Bivalent Enhancer	K562	blood
26	chr1:212807800-212808200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:212807800-212808800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:212807800-212808800	Enhancers	HUVEC	blood vessel
29	chr1:212807800-212808800	ZNF genes & repeats	Osteobl	bone
30	chr1:212807800-212811000	Enhancers	Fetal Intestine Large	intestine
31	chr1:212807800-212811400	Enhancers	Fetal Muscle Leg	muscle
32	chr1:212807800-212812600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:212807800-212812800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:212808000-212808400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr1:212808000-212808600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr1:212808000-212809400	Enhancers	NHDF-Ad	bronchial
37	chr1:212808000-212809600	Enhancers	Fetal Lung	lung
38	chr1:212808000-212810000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:212808000-212812600	Enhancers	Cortex derived primary cultured neurospheres	brain

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