Variant report

Variant	rs1523356
Chromosome Location	chr2:50343749-50343750
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	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17039814	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2123387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3959924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718720	1.00[AMR][1000 genomes]
rs6731398	1.00[AMR][1000 genomes]
rs6743892	1.00[AMR][1000 genomes]
rs6752213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932944	1.00[AMR][1000 genomes]
rs73932946	1.00[AMR][1000 genomes]
rs73932947	1.00[AMR][1000 genomes]
rs7572070	1.00[AMR][1000 genomes]
rs7584380	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2755683	chr2:50307245-50345280	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50330400-50345600	Weak transcription	Fetal Brain Male	brain
2	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50339400-50343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:50342600-50346000	Enhancers	Fetal Intestine Small	intestine
5	chr2:50342800-50345800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:50343200-50346000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:50343200-50346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:50343200-50347200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:50343400-50343800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:50343400-50344000	Enhancers	Stomach Mucosa	stomach
11	chr2:50343400-50344200	Enhancers	Small Intestine	intestine
12	chr2:50343600-50343800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:50343600-50343800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:50343600-50343800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:50343600-50344000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:50343600-50344200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:50343600-50344200	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:50343600-50344400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:50343600-50344600	Enhancers	Fetal Intestine Large	intestine
20	chr2:50343600-50344600	Weak transcription	Fetal Kidney	kidney
21	chr2:50343600-50346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:50343600-50346800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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