Variant report

Variant	rs2619356
Chromosome Location	chr4:90750844-90750845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10005233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10008964	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10028246	0.84[ASN][1000 genomes]
rs1348224	0.85[ASN][1000 genomes]
rs1372517	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1372518	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372519	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372520	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372521	0.84[ASN][1000 genomes]
rs1372522	0.80[ASN][1000 genomes]
rs1442144	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1442148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1471484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1811442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1811443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1822217	0.84[ASN][1000 genomes]
rs1837891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs184810	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2197120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2245801	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2301134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2301135	0.90[ASN][1000 genomes]
rs2572318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572320	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2583962	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2583964	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2583968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2583972	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2583975	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2583978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619341	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2619347	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2619349	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2619355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2619368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736994	0.80[AMR][1000 genomes]
rs2737002	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2737010	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2737011	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2737021	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2737025	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2737028	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2737030	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28415623	0.82[ASN][1000 genomes]
rs28507349	0.84[ASN][1000 genomes]
rs3113355	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs356162	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs356186	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs356188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs356191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs356196	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs356197	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs356198	0.93[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3756059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3756063	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3806789	0.83[ASN][1000 genomes]
rs4293762	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58864428	0.84[ASN][1000 genomes]
rs6532191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6532192	0.85[ASN][1000 genomes]
rs6532193	0.85[ASN][1000 genomes]
rs6816736	0.84[ASN][1000 genomes]
rs6817001	0.84[ASN][1000 genomes]
rs6828271	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6843084	0.84[ASN][1000 genomes]
rs748849	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680557	0.85[ASN][1000 genomes]
rs7680761	0.85[ASN][1000 genomes]
rs7681154	0.83[ASN][1000 genomes]
rs7681440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7687945	0.85[ASN][1000 genomes]
rs894280	0.85[ASN][1000 genomes]
rs920624	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs972880	0.93[CEU][hapmap]
rs990085	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90722200-90751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:90730200-90757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:90730800-90757000	Weak transcription	Fetal Stomach	stomach
4	chr4:90735800-90755600	Weak transcription	Fetal Brain Male	brain
5	chr4:90738000-90755800	Weak transcription	Fetal Brain Female	brain
6	chr4:90738400-90756600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:90742800-90752200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:90743400-90753400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:90743400-90756600	Weak transcription	NHEK	skin
10	chr4:90743400-90757400	Weak transcription	Gastric	stomach
11	chr4:90743600-90754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:90743800-90756600	Weak transcription	Ovary	ovary
13	chr4:90748800-90751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:90748800-90755600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:90750000-90751000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:90750000-90751200	Enhancers	Primary T cells from cord blood	blood
17	chr4:90750000-90751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:90750200-90751200	Enhancers	Primary B cells from cord blood	blood
19	chr4:90750200-90752000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:90750400-90751000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:90750400-90751000	Active TSS	Brain Substantia Nigra	brain
22	chr4:90750400-90751200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:90750400-90751200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr4:90750400-90751200	Active TSS	Brain Angular Gyrus	brain
25	chr4:90750400-90751400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:90750400-90751400	Flanking Active TSS	Dnd41	blood
27	chr4:90750400-90751400	Genic enhancers	HMEC	breast
28	chr4:90750400-90751400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:90750400-90751600	Genic enhancers	HUVEC	blood vessel
30	chr4:90750600-90751000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:90750600-90751000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:90750600-90751000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:90750600-90751000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:90750600-90751000	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:90750600-90751000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr4:90750600-90751000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:90750600-90751000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr4:90750600-90751000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:90750600-90751000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:90750600-90751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:90750600-90751000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:90750600-90751000	Active TSS	Brain Anterior Caudate	brain
43	chr4:90750600-90751000	Active TSS	Brain Cingulate Gyrus	brain
44	chr4:90750600-90751000	Enhancers	Fetal Thymus	thymus
45	chr4:90750600-90751200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:90750600-90751200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:90750600-90751200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr4:90750600-90751200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:90750600-90751200	Enhancers	GM12878-XiMat	blood
50	chr4:90750600-90751400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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