Variant report

Variant	rs2289044
Chromosome Location	chr4:96077383-96077384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96076258..96078033-chr4:96079736..96082501,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10155123	0.82[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs10155222	0.82[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10212627	0.83[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs10516958	0.83[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11097457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097458	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs12506402	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12640643	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12644188	0.80[EUR][1000 genomes]
rs12650281	0.80[EUR][1000 genomes]
rs1365691	0.85[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369085	0.86[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434535	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434536	0.82[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434538	0.83[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1434539	0.82[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1434544	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540403	0.85[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17348139	0.81[EUR][1000 genomes]
rs1813074	0.90[JPT][hapmap]
rs1836261	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863654	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1865379	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966548	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1970801	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114533	0.86[EUR][1000 genomes]
rs2162450	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241743	0.92[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2241744	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs2865397	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3755876	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs3775042	0.89[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796437	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs3796439	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796443	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs3821964	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3857227	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857228	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4583767	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58399580	0.80[EUR][1000 genomes]
rs6815969	0.87[EUR][1000 genomes]
rs7664562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694531	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs965823	0.82[JPT][hapmap]
rs975608	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs989383	0.83[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96034200-96079200	Weak transcription	Fetal Kidney	kidney
2	chr4:96054200-96084000	Weak transcription	A549	lung
3	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:96061000-96079800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:96061200-96079000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:96061200-96079200	Weak transcription	Fetal Stomach	stomach
7	chr4:96061200-96079800	Weak transcription	Pancreas	Pancrea
8	chr4:96061200-96088800	Weak transcription	Aorta	Aorta
9	chr4:96061200-96088800	Weak transcription	Ovary	ovary
10	chr4:96061800-96079000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:96063800-96077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:96064800-96078800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:96075000-96079400	Enhancers	Primary T cells from cord blood	blood
14	chr4:96075800-96077800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:96076000-96082000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:96076200-96077800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:96076200-96077800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:96076200-96077800	Enhancers	Thymus	Thymus
19	chr4:96076200-96078000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:96076400-96077400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:96076400-96077800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:96076400-96077800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:96076400-96078000	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:96076600-96077800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:96076600-96081400	Genic enhancers	Dnd41	blood
26	chr4:96076600-96084000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:96076800-96077400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:96076800-96077400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:96076800-96077600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:96076800-96077600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:96076800-96077800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:96077000-96077800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:96077200-96077400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:96077200-96077800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:96077200-96077800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:96077200-96077800	Enhancers	NH-A	brain
37	chr4:96077200-96077800	Enhancers	Osteobl	bone
38	chr4:96077200-96078200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:96077200-96079800	Weak transcription	Fetal Thymus	thymus
40	chr4:96077200-96088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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