Variant report

Variant	rs7730993
Chromosome Location	chr5:93109159-93109160
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10050364	0.87[YRI][hapmap]
rs10062291	1.00[ASN][1000 genomes]
rs10066088	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066323	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070314	1.00[ASN][1000 genomes]
rs10076457	1.00[ASN][1000 genomes]
rs1026280	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026281	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031422	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476520	0.87[YRI][hapmap]
rs10476595	1.00[ASN][1000 genomes]
rs10514378	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866759	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135399	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372037	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453002	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083315	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083337	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083377	0.83[YRI][hapmap]
rs1869277	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1982439	0.83[YRI][hapmap]
rs2119449	0.86[ASW][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344918	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924374	0.83[YRI][hapmap]
rs2924375	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924377	0.84[ASW][hapmap];1.00[CEU][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147150	1.00[EUR][1000 genomes]
rs4242233	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380636	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607342	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869203	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869204	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869205	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869208	1.00[ASN][1000 genomes]
rs57046989	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57881693	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556834	0.87[YRI][hapmap]
rs6556835	0.82[EUR][1000 genomes]
rs6868462	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868481	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6873825	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874223	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879620	0.87[YRI][hapmap]
rs6881815	0.87[YRI][hapmap]
rs6893023	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898507	0.87[YRI][hapmap]
rs73137117	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137123	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137126	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137133	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137142	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702649	0.87[YRI][hapmap]
rs7710880	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715555	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314089	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314090	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314091	1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv830405	chr5:93086825-93258518	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:93077200-93130400	Weak transcription	Spleen	Spleen
2	chr5:93077400-93111000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:93087800-93124000	Weak transcription	Pancreas	Pancrea
4	chr5:93092400-93112000	Weak transcription	Psoas Muscle	Psoas
5	chr5:93094800-93111000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:93096400-93113600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:93100600-93136200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:93101200-93164200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:93101400-93112000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:93101800-93136600	Weak transcription	HSMMtube	muscle
11	chr5:93102000-93109600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:93102600-93113200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:93103800-93113200	Weak transcription	Brain Germinal Matrix	brain
14	chr5:93104600-93109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:93106600-93114200	Weak transcription	Fetal Brain Female	brain
16	chr5:93106800-93113000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:93106800-93125400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:93106800-93132400	Weak transcription	Placenta	Placenta
19	chr5:93107000-93109400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:93107000-93124800	Weak transcription	HSMM	muscle
21	chr5:93107200-93113400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:93107400-93120600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:93108000-93110800	Weak transcription	Fetal Kidney	kidney
24	chr5:93108000-93113400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:93108200-93109200	Strong transcription	Thymus	Thymus
26	chr5:93108200-93109400	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr5:93108200-93109400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr5:93108200-93109600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:93108200-93110000	Strong transcription	Dnd41	blood
30	chr5:93108200-93111000	Strong transcription	Left Ventricle	heart
31	chr5:93108200-93111400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr5:93108200-93111800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:93108200-93111800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:93108200-93112000	Strong transcription	Primary B cells from cord blood	blood
35	chr5:93108200-93118200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:93108200-93118800	Weak transcription	Osteobl	bone
37	chr5:93108400-93109200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr5:93108400-93109200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:93108400-93109200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:93108400-93109400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:93108400-93109400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:93108400-93109400	Strong transcription	Brain Hippocampus Middle	brain
43	chr5:93108400-93109400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr5:93108400-93110000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:93108400-93111200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:93108400-93111400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:93108400-93111400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:93108400-93111400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:93108400-93111600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:93108400-93111600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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