Variant report

Variant	rs62139705
Chromosome Location	chr2:47619640-47619641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10173799	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10179950	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1126497	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11686285	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12999725	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1863333	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2162122	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303426	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3815865	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3923559	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4073491	0.81[AMR][1000 genomes]
rs4952885	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6544987	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757310	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71399026	0.82[AMR][1000 genomes]
rs7587478	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7587654	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47597200-47619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47597400-47629400	Weak transcription	NHEK	skin
3	chr2:47601200-47629400	Weak transcription	Stomach Mucosa	stomach
4	chr2:47604800-47628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:47605200-47629000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:47607800-47624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:47608000-47629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:47609800-47629200	Weak transcription	Fetal Stomach	stomach
9	chr2:47612000-47629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:47613800-47620800	Weak transcription	Fetal Kidney	kidney
11	chr2:47614000-47620400	Strong transcription	Fetal Intestine Small	intestine
12	chr2:47614000-47620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:47614200-47628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:47615600-47629400	Weak transcription	Colonic Mucosa	Colon
15	chr2:47616200-47623400	Weak transcription	HepG2	liver
16	chr2:47616800-47629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:47617000-47629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:47617200-47628800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:47617200-47629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:47617400-47629600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:47619000-47620000	Enhancers	K562	blood
22	chr2:47619200-47629400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:47619400-47628800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:47619400-47629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:47619400-47629400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:47619400-47629400	Weak transcription	Pancreas	Pancrea
27	chr2:47619400-47629400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:47619600-47629000	Weak transcription	Fetal Intestine Large	intestine

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