Variant report

Variant	rs865641
Chromosome Location	chr2:173590951-173590952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173585042..173587496-chr2:173590945..173592847,2	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12693011	0.87[AMR][1000 genomes]
rs1559627	0.87[AMR][1000 genomes]
rs2357806	0.87[AMR][1000 genomes]
rs2357807	0.87[AMR][1000 genomes]
rs6728765	0.87[AMR][1000 genomes]
rs836645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864472	0.89[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173587000-173591000	Weak transcription	HSMM	muscle
2	chr2:173588800-173600200	Weak transcription	Aorta	Aorta
3	chr2:173589800-173591000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:173589800-173592400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:173590400-173591400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:173590400-173592000	Enhancers	Fetal Intestine Small	intestine
7	chr2:173590400-173592200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:173590400-173592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:173590400-173592200	Enhancers	Fetal Intestine Large	intestine
10	chr2:173590600-173591200	Enhancers	Adipose Nuclei	Adipose
11	chr2:173590600-173591400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:173590600-173592000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:173590600-173592000	Enhancers	Liver	Liver
14	chr2:173590800-173591000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:173590800-173591000	Enhancers	A549	lung
16	chr2:173590800-173591400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:173590800-173591600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:173590800-173591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:173590800-173591600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173590800-173591600	Flanking Active TSS	HepG2	liver
21	chr2:173590800-173591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:173590800-173591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:173590800-173592000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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