Variant report

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr1:212863012-212863486	GM12878	blood:	n/a	n/a
2	NFATC1	chr1:212862882-212863597	GM12878	blood:	n/a	n/a
3	BCL3	chr1:212862993-212863401	GM12878	blood:	n/a	n/a
4	BCL3	chr1:212862842-212863557	GM12878	blood:	n/a	n/a
5	NFATC1	chr1:212862946-212863530	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212858272..212860534-chr1:212861988..212863747,2	K562	blood:
2	chr1:212860743..212863058-chr1:212869735..212872128,3	K562	blood:
3	chr1:212786724..212788498-chr1:212861263..212863141,2	K562	blood:
4	chr1:212856855..212858947-chr1:212862526..212864877,2	MCF-7	breast:
5	chr1:212785776..212788498-chr1:212861263..212863203,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1107215	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2492779	0.94[CHB][hapmap]
rs2501854	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2501860	0.83[ASN][1000 genomes]
rs3003487	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:212857200-212871600	Weak transcription	Dnd41	blood
4	chr1:212857600-212863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:212857800-212866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:212858600-212872200	Weak transcription	Gastric	stomach
8	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
9	chr1:212859200-212864400	Weak transcription	GM12878-XiMat	blood
10	chr1:212860200-212863600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:212860400-212863200	Weak transcription	Spleen	Spleen
12	chr1:212861600-212863600	Enhancers	Fetal Lung	lung
13	chr1:212861600-212863800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr1:212861600-212863800	Enhancers	Placenta	Placenta
15	chr1:212862600-212871600	Weak transcription	NHLF	lung
16	chr1:212862800-212863400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:212862800-212863800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:212862800-212864800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:212863000-212863400	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr1:212863000-212863800	Enhancers	HUES6 Cell Line	embryonic stem cell

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