Variant report

Variant	rs10076457
Chromosome Location	chr5:93372565-93372566
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	chr5:93367436..93369479-chr5:93371840..93374615,2	K562	blood:
2	chr5:93366072..93368936-chr5:93371840..93373381,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10062291	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066088	1.00[ASN][1000 genomes]
rs10066323	1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs10070314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026280	1.00[ASN][1000 genomes]
rs1026281	0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs1031422	1.00[ASN][1000 genomes]
rs10476595	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514378	1.00[ASN][1000 genomes]
rs10866759	1.00[ASN][1000 genomes]
rs11135399	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161203	1.00[EUR][1000 genomes]
rs1372037	1.00[ASN][1000 genomes]
rs1453002	0.92[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs17083337	1.00[ASN][1000 genomes]
rs2119449	1.00[ASN][1000 genomes]
rs2344918	1.00[ASN][1000 genomes]
rs2345363	1.00[EUR][1000 genomes]
rs2345364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924375	1.00[ASN][1000 genomes]
rs2924377	1.00[ASN][1000 genomes]
rs4242233	1.00[ASN][1000 genomes]
rs4380636	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4607342	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4869203	0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs4869204	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4869205	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57046989	1.00[ASN][1000 genomes]
rs6556841	1.00[ASN][1000 genomes]
rs6868462	1.00[ASN][1000 genomes]
rs6868481	1.00[ASN][1000 genomes]
rs6873825	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874223	1.00[ASN][1000 genomes]
rs6893023	0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs6894989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710880	0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs7715555	1.00[ASN][1000 genomes]
rs7730993	1.00[ASN][1000 genomes]
rs9314089	1.00[ASN][1000 genomes]
rs9314090	1.00[ASN][1000 genomes]
rs9314091	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
2	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93346600-93376400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:93347000-93380000	Weak transcription	Thymus	Thymus
5	chr5:93348400-93399000	Weak transcription	Esophagus	oesophagus
6	chr5:93348800-93394000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:93349200-93375000	Weak transcription	Placenta	Placenta
8	chr5:93349200-93386200	Weak transcription	Spleen	Spleen
9	chr5:93351000-93394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:93351800-93384200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:93353400-93394600	Weak transcription	Fetal Kidney	kidney
12	chr5:93354400-93384000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:93354800-93400200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:93354800-93400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:93355000-93378800	Weak transcription	Fetal Brain Female	brain
16	chr5:93355000-93398400	Weak transcription	Right Ventricle	heart
17	chr5:93357200-93374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:93357400-93393400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:93357600-93378600	Weak transcription	Fetal Lung	lung
20	chr5:93357600-93379800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:93357600-93380000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:93357600-93385800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:93357600-93393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:93357600-93394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:93357800-93380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:93357800-93399200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:93358000-93393000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:93358200-93376400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:93358200-93376400	Weak transcription	Fetal Stomach	stomach
30	chr5:93358200-93385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:93358400-93396800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:93359000-93380400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:93359000-93381600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:93362000-93379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:93362000-93389600	Weak transcription	Lung	lung
36	chr5:93362000-93398600	Weak transcription	Gastric	stomach
37	chr5:93362200-93384200	Weak transcription	Pancreas	Pancrea
38	chr5:93364200-93376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:93366000-93391400	Weak transcription	HSMM	muscle
40	chr5:93366200-93374400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:93366400-93394400	Weak transcription	Left Ventricle	heart
42	chr5:93367400-93379800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:93367400-93379800	Weak transcription	Liver	Liver
44	chr5:93367400-93384200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:93367600-93379800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:93367600-93384200	Weak transcription	Adipose Nuclei	Adipose
47	chr5:93367600-93390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:93368200-93379800	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:93368400-93376400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:93368400-93393400	Weak transcription	Psoas Muscle	Psoas

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