Variant report

Variant	rs11682717
Chromosome Location	chr2:178499240-178499241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:178497999..178500939-chr2:178626259..178628565,2	K562	blood:
2	chr2:178499231..178501761-chr2:178503904..178506555,2	K562	blood:
3	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
4	chr2:178494059..178496707-chr2:178497248..178499887,2	K562	blood:
5	chr2:178485267..178487759-chr2:178497863..178500182,2	K562	blood:
6	chr2:178482484..178484569-chr2:178497443..178499895,2	K562	blood:
7	chr2:178490562..178493751-chr2:178498705..178503907,5	K562	blood:
8	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10167783	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678875	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11682753	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11890088	0.83[ASN][1000 genomes]
rs12467363	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469884	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471621	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12475108	0.87[ASN][1000 genomes]
rs12611503	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616259	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616288	0.84[AFR][1000 genomes]
rs12990878	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12990917	0.83[AMR][1000 genomes]
rs12994392	0.84[ASN][1000 genomes]
rs12997716	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13008833	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13008857	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13009207	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027895	0.85[AMR][1000 genomes]
rs13034781	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1358328	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1405714	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1405717	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1405718	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1527401	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1527406	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1527407	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1544002	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2222711	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770005	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770007	0.82[ASN][1000 genomes]
rs3770009	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770010	0.84[ASN][1000 genomes]
rs3770011	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770012	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821006	0.84[ASN][1000 genomes]
rs4144275	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144276	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4337505	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4470372	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4893838	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55792594	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6433684	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6734528	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7578325	0.82[ASN][1000 genomes]
rs7605493	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7605609	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7605757	0.82[ASN][1000 genomes]
rs880897	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs880898	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178497200-178499400	Enhancers	Dnd41	blood
2	chr2:178498600-178499600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:178498600-178500000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:178498800-178499400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:178498800-178499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:178498800-178499400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:178498800-178499400	Active TSS	Right Ventricle	heart
8	chr2:178498800-178499400	Active TSS	Thymus	Thymus
9	chr2:178498800-178499400	Active TSS	NHLF	lung
10	chr2:178498800-178499400	Active TSS	Osteobl	bone
11	chr2:178498800-178499600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:178498800-178499600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:178498800-178499600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:178498800-178499600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:178498800-178499600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:178498800-178499600	Active TSS	Brain Angular Gyrus	brain
17	chr2:178498800-178499600	Active TSS	Fetal Kidney	kidney
18	chr2:178498800-178499600	Active TSS	Ovary	ovary
19	chr2:178498800-178499600	Active TSS	Psoas Muscle	Psoas
20	chr2:178498800-178499600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:178498800-178499600	Active TSS	Right Atrium	heart
22	chr2:178498800-178499600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:178498800-178499600	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr2:178498800-178499600	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:178498800-178499600	Active TSS	HSMM	muscle
26	chr2:178498800-178499600	Active TSS	HUVEC	blood vessel
27	chr2:178498800-178499600	Active TSS	NHDF-Ad	bronchial
28	chr2:178498800-178499800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:178498800-178499800	Active TSS	Duodenum Mucosa	Duodenum
30	chr2:178499000-178499400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr2:178499000-178499400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:178499000-178499400	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:178499000-178499400	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:178499000-178499400	Active TSS	Fetal Brain Female	brain
35	chr2:178499000-178499400	Active TSS	GM12878-XiMat	blood
36	chr2:178499000-178499400	Active TSS	K562	blood
37	chr2:178499000-178499600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:178499000-178499600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:178499000-178499600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:178499000-178499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:178499000-178499600	Active TSS	Primary B cells from peripheral blood	blood
42	chr2:178499000-178499600	Active TSS	Brain Hippocampus Middle	brain
43	chr2:178499000-178499600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:178499000-178499600	Active TSS	Fetal Muscle Trunk	muscle
45	chr2:178499000-178499600	Active TSS	Placenta	Placenta
46	chr2:178499000-178499600	Active TSS	HSMMtube	muscle
47	chr2:178499000-178499800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:178499000-178500000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:178499200-178499400	Active TSS	Adipose Nuclei	Adipose
50	chr2:178499200-178499600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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