Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:173587451..173589805-chr2:173592325..173594244,2	MCF-7	breast:
2	chr2:173587928..173589745-chr2:173599191..173601006,2	MCF-7	breast:
3	chr2:173575339..173578126-chr2:173587981..173590920,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-5	chr2:173587914-173592161	ENSG00000228016
2	lnc-DLX2-5	chr2:173587918-173592161	NR_026995

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction
ENSG00000228016	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10188540	0.85[ASN][1000 genomes]
rs10198425	0.85[ASN][1000 genomes]
rs10198426	0.85[ASN][1000 genomes]
rs10198546	0.85[ASN][1000 genomes]
rs11897396	0.85[ASN][1000 genomes]
rs11902043	0.85[ASN][1000 genomes]
rs12328591	0.85[ASN][1000 genomes]
rs12328781	0.85[ASN][1000 genomes]
rs12329241	0.85[ASN][1000 genomes]
rs13385676	0.85[ASN][1000 genomes]
rs13400719	0.85[ASN][1000 genomes]
rs13408965	0.85[ASN][1000 genomes]
rs13411408	0.85[ASN][1000 genomes]
rs13417913	0.85[ASN][1000 genomes]
rs13423248	0.85[ASN][1000 genomes]
rs2167374	0.85[ASN][1000 genomes]
rs28541707	0.85[ASN][1000 genomes]
rs28690076	0.85[ASN][1000 genomes]
rs62168072	0.85[ASN][1000 genomes]
rs6724116	0.85[ASN][1000 genomes]
rs72893026	0.84[ASN][1000 genomes]
rs9989778	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173582600-173590800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:173587000-173591000	Weak transcription	HSMM	muscle
3	chr2:173587600-173590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:173588000-173589800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173588400-173590800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:173588600-173590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:173588800-173600200	Weak transcription	Aorta	Aorta
8	chr2:173589200-173589400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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