Variant report

Variant	rs12598707
Chromosome Location	chr16:46922047-46922048
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	chr16:46917956..46920289-chr16:46920497..46924419,3	K562	blood:

Variant related genes	Relation type
ENSG00000166123	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	1.00[AMR][1000 genomes]
rs185213	1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	1.00[AMR][1000 genomes]
rs1992078	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	1.00[AMR][1000 genomes]
rs250421	1.00[AMR][1000 genomes]
rs252723	1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[AMR][1000 genomes]
rs252728	1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	1.00[AMR][1000 genomes]
rs36309	1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[AMR][1000 genomes]
rs36314	1.00[AMR][1000 genomes]
rs36317	1.00[AMR][1000 genomes]
rs36459	1.00[AMR][1000 genomes]
rs36461	1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966603	1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967594	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4967595	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AMR][1000 genomes]
rs698417	1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	1.00[AMR][1000 genomes]
rs700581	1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049238	1.00[YRI][hapmap]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[AMR][1000 genomes]
rs811196	1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[AMR][1000 genomes]
rs937659	1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9930036	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46919000-46945400	Weak transcription	Aorta	Aorta
2	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:46919200-46927600	Weak transcription	Ovary	ovary
4	chr16:46919200-46931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:46919200-46933200	Weak transcription	HUVEC	blood vessel
6	chr16:46919200-46934400	Weak transcription	Lung	lung
7	chr16:46919400-46927800	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:46919400-46931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:46919600-46923400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr16:46919600-46923800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:46919600-46929800	Weak transcription	Right Atrium	heart
12	chr16:46919600-46931400	Weak transcription	Spleen	Spleen
13	chr16:46919600-46934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:46919800-46923400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:46919800-46927600	Weak transcription	Right Ventricle	heart
16	chr16:46920000-46931800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:46920200-46927600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:46920200-46944800	Weak transcription	Hela-S3	cervix
19	chr16:46920400-46922200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:46920400-46922200	Enhancers	Brain Angular Gyrus	brain
21	chr16:46920400-46922200	Enhancers	Fetal Lung	lung
22	chr16:46920400-46922200	Enhancers	Psoas Muscle	Psoas
23	chr16:46920400-46928000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:46920400-46928000	Weak transcription	HSMMtube	muscle
25	chr16:46920400-46928800	Weak transcription	Osteobl	bone
26	chr16:46920600-46922200	Enhancers	Brain Substantia Nigra	brain
27	chr16:46920600-46922200	Enhancers	Stomach Mucosa	stomach
28	chr16:46920600-46929600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:46920600-46933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:46920800-46922200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:46920800-46922200	Transcr. at gene 5' and 3'	HepG2	liver
32	chr16:46920800-46923400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:46920800-46923400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:46920800-46924600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:46920800-46925400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:46920800-46927600	Weak transcription	Placenta	Placenta
37	chr16:46920800-46928000	Weak transcription	Fetal Kidney	kidney
38	chr16:46920800-46929000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:46920800-46929400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:46920800-46936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:46920800-46940600	Weak transcription	HMEC	breast
42	chr16:46920800-46949000	Weak transcription	A549	lung
43	chr16:46921000-46922200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:46921000-46922200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:46921000-46922600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:46921000-46923000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:46921000-46923000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr16:46921000-46923400	Weak transcription	GM12878-XiMat	blood
49	chr16:46921000-46924000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr16:46921000-46924200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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