Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:98307590-98308935	MCF-7	breast:	n/a	n/a
2	CTBP2	chr2:98307565-98308295	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98262433..98263983-chr2:98307567..98310262,2	MCF-7	breast:
2	chr2:98307215..98309904-chr2:98310640..98314213,3	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17028435	0.84[AFR][1000 genomes]
rs17028568	0.84[AFR][1000 genomes]
rs17028640	0.84[AFR][1000 genomes]
rs17028771	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17028924	0.84[AFR][1000 genomes]
rs17029878	0.84[AFR][1000 genomes]
rs17695937	0.81[ASN][1000 genomes]
rs2071038	0.86[ASN][1000 genomes]
rs2290123	0.86[ASN][1000 genomes]
rs2290126	0.91[ASN][1000 genomes]
rs2290127	0.86[ASN][1000 genomes]
rs34459720	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35321033	0.86[ASN][1000 genomes]
rs35530168	0.86[ASN][1000 genomes]
rs55757705	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55766309	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55933640	0.86[ASN][1000 genomes]
rs56035334	0.86[ASN][1000 genomes]
rs56233535	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56717024	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57183691	0.86[AFR][1000 genomes]
rs57875000	0.96[AFR][1000 genomes]
rs58321192	0.91[ASN][1000 genomes]
rs59021370	0.91[ASN][1000 genomes]
rs59060391	0.91[ASN][1000 genomes]
rs59168350	0.86[ASN][1000 genomes]
rs62157581	0.86[ASN][1000 genomes]
rs6542982	0.86[ASN][1000 genomes]
rs6753752	0.86[ASN][1000 genomes]
rs72951131	0.91[ASN][1000 genomes]
rs73959772	0.84[AFR][1000 genomes]
rs7425883	0.86[ASN][1000 genomes]
rs9678135	0.84[AFR][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98305600-98313600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:98306000-98322400	Weak transcription	Fetal Stomach	stomach
5	chr2:98307000-98313400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:98307400-98308400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:98307600-98308400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:98307600-98308600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:98307800-98308400	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:98307800-98310800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:98308000-98308400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:98308000-98308600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:98308000-98308600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:98308200-98312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:98308200-98313400	Weak transcription	Brain Substantia Nigra	brain
16	chr2:98308200-98316400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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