Variant report

Variant	rs4415069
Chromosome Location	chr5:112866908-112866909
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10071966	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035408	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1132528	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11957650	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12523145	0.82[JPT][hapmap]
rs12659978	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1517210	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs164251	0.96[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs171181	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182987	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1845290	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs190453	0.81[EUR][1000 genomes]
rs2303717	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2431548	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2434664	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434665	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs255856	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs26985	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs26991	0.82[JPT][hapmap]
rs27566	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs27700	0.81[EUR][1000 genomes]
rs2910018	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2914153	0.80[AFR][1000 genomes]
rs348927	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs348933	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs348949	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs348950	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs348953	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3763139	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3857435	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs3857437	0.85[CHB][hapmap]
rs3936062	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs406288	0.81[EUR][1000 genomes]
rs423089	0.96[CEU][hapmap];0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4235796	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4438867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444963	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs459428	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs461034	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs463216	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs4639215	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs465898	0.96[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs466564	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs4705830	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705831	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57617774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373764	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6594711	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs6594735	0.82[JPT][hapmap]
rs6594736	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66534827	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs675353	0.96[CEU][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6869097	0.88[JPT][hapmap]
rs6881976	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6886199	0.82[JPT][hapmap]
rs6886338	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7702120	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs7702405	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7703233	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713378	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9326895	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9552	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9885084	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv969205	chr5:112860167-112867961	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112867000	Weak transcription	Pancreas	Pancrea
2	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:112850400-112879200	Weak transcription	Gastric	stomach
4	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
5	chr5:112850600-112867600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:112850600-112868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
10	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
12	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
16	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:112856600-112867800	Weak transcription	HMEC	breast
18	chr5:112857000-112877600	Weak transcription	HepG2	liver
19	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
21	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:112861000-112869800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:112861400-112868600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:112861800-112869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:112862000-112867200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
30	chr5:112864400-112869600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112864800-112868000	ZNF genes & repeats	Dnd41	blood
32	chr5:112865200-112867000	Weak transcription	Hela-S3	cervix
33	chr5:112865200-112868800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:112865400-112867200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:112865400-112867400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr5:112865600-112867200	Strong transcription	Fetal Kidney	kidney
37	chr5:112865600-112867200	Strong transcription	K562	blood
38	chr5:112865600-112867600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:112865600-112867800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:112865600-112868000	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr5:112865600-112868800	ZNF genes & repeats	GM12878-XiMat	blood
42	chr5:112865600-112869000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:112865800-112867400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr5:112865800-112867400	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr5:112866000-112867000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112866000-112868200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:112866200-112867000	ZNF genes & repeats	Osteobl	bone
49	chr5:112866200-112867400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:112866200-112868000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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