Variant report

Variant	rs13165869
Chromosome Location	chr5:43490467-43490468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43489381..43491618-chr5:43492508..43494116,4	K562	blood:
2	chr5:43489377..43492183-chr5:43502657..43505496,3	K562	blood:
3	chr5:43490222..43492249-chr5:43547823..43550065,2	K562	blood:
4	chr5:43488630..43490771-chr5:43496905..43499855,3	MCF-7	breast:
5	chr5:43224143..43226166-chr5:43489301..43491699,2	K562	blood:

Variant related genes	Relation type
ENSG00000249888	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10058080	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1025299	1.00[JPT][hapmap]
rs10461740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461741	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10461744	1.00[JPT][hapmap]
rs10462050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10462054	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10941642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12653472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653645	0.81[ASN][1000 genomes]
rs12656199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12658205	1.00[AMR][1000 genomes]
rs12659627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154319	1.00[CEU][hapmap]
rs13155888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158442	1.00[AMR][1000 genomes]
rs13160431	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13161149	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13161298	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13161668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161770	1.00[AMR][1000 genomes]
rs13166593	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13167838	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13168053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169908	1.00[CEU][hapmap]
rs13173517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175688	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13177107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13179680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180902	1.00[CEU][hapmap]
rs13183407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183746	0.93[ASN][1000 genomes]
rs13186439	1.00[CEU][hapmap]
rs13188640	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13188683	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13188884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356232	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16873319	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16873404	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs16873421	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16873433	1.00[JPT][hapmap]
rs16873438	0.82[JPT][hapmap]
rs16873454	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2042950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34096155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34141186	0.81[ASN][1000 genomes]
rs34179982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34350522	1.00[AMR][1000 genomes]
rs34455365	1.00[AMR][1000 genomes]
rs34512505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34617389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34788563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792822	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34868623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34973456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34980504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34991197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136550	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35171369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35478855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590922	1.00[AMR][1000 genomes]
rs35602154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707409	1.00[AMR][1000 genomes]
rs35713376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35733458	1.00[AMR][1000 genomes]
rs35923573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35966682	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36076336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36104847	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3733767	1.00[JPT][hapmap]
rs3756417	1.00[JPT][hapmap]
rs3764980	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3792917	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3792921	1.00[JPT][hapmap]
rs3805720	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3805721	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3805722	1.00[JPT][hapmap]
rs3806871	1.00[CEU][hapmap]
rs3822423	1.00[JPT][hapmap]
rs3828695	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4264950	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4438885	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4498257	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4533897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6451719	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6862487	1.00[JPT][hapmap]
rs6862588	1.00[JPT][hapmap]
rs6868763	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6889653	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6890108	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6892337	1.00[JPT][hapmap]
rs71629170	1.00[AMR][1000 genomes]
rs71629171	1.00[AMR][1000 genomes]
rs71629172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71629174	1.00[AMR][1000 genomes]
rs71629175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71629177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629178	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629180	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7716562	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7720858	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7737947	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9292877	1.00[JPT][hapmap]

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:43484800-43514600	Weak transcription	Ovary	ovary
10	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
11	chr5:43485000-43497800	Weak transcription	Placenta	Placenta
12	chr5:43485000-43501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:43485000-43501000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:43485000-43503000	Weak transcription	NHEK	skin
16	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
25	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
26	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
29	chr5:43485200-43513200	Weak transcription	NHLF	lung
30	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
32	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine
34	chr5:43485200-43513600	Weak transcription	HSMM	muscle
35	chr5:43485200-43513600	Weak transcription	NH-A	brain
36	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:43485400-43495800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:43485400-43501200	Weak transcription	A549	lung
39	chr5:43485400-43502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:43485400-43505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:43485400-43514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:43485800-43503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:43485800-43505200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:43485800-43505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:43485800-43514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:43486000-43497600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:43486000-43501200	Weak transcription	Osteobl	bone
48	chr5:43486000-43503000	Weak transcription	Thymus	Thymus
49	chr5:43486000-43509800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:43486000-43514200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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