Variant report

Variant	rs747880
Chromosome Location	chr5:93982573-93982574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
2	chr5:93954423..93956135-chr5:93981636..93983140,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10037940	0.96[EUR][1000 genomes]
rs10039102	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10039797	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10052066	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10062402	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10072894	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10074178	0.81[AMR][1000 genomes]
rs10078522	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1031389	0.81[AMR][1000 genomes]
rs10476614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1124667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11948061	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12189060	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1451734	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549179	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112448	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2112449	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112450	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636	0.86[EUR][1000 genomes]
rs2638	0.86[EUR][1000 genomes]
rs306574	0.86[EUR][1000 genomes]
rs306578	0.88[EUR][1000 genomes]
rs395097	0.80[ASN][1000 genomes]
rs421521	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6556849	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755899	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755901	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7709494	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735924	0.87[EUR][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	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv882386	chr5:93973177-94008969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv435825	chr5:93978177-93984514	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs747880	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs747880	MCTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:93955800-94027600	Weak transcription	NH-A	brain
5	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
14	chr5:93968000-93995200	Weak transcription	HSMM	muscle
15	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:93971400-93995400	Weak transcription	Spleen	Spleen
17	chr5:93973200-93988400	Weak transcription	Fetal Brain Male	brain
18	chr5:93973400-93989800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:93973800-93995200	Weak transcription	Lung	lung
20	chr5:93973800-94004200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:93974200-93995400	Weak transcription	Ovary	ovary
22	chr5:93974400-93995200	Weak transcription	Thymus	Thymus
23	chr5:93974600-93993400	Strong transcription	Hela-S3	cervix
24	chr5:93975200-93988400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:93975600-93988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:93975600-93990600	Weak transcription	Fetal Heart	heart
27	chr5:93975600-93990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:93975600-93995200	Weak transcription	Esophagus	oesophagus
29	chr5:93975600-93995200	Weak transcription	Fetal Stomach	stomach
30	chr5:93975600-94012000	Weak transcription	Aorta	Aorta
31	chr5:93975800-93987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:93975800-93988400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:93975800-93989600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:93975800-93991000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:93975800-93993400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:93975800-93994000	Weak transcription	Small Intestine	intestine
37	chr5:93976000-93989400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:93976200-93988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:93976600-93990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:93976600-93990200	Weak transcription	Liver	Liver
41	chr5:93976600-93990600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:93976600-93990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:93976800-93984200	Weak transcription	Brain Germinal Matrix	brain
44	chr5:93976800-93985200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:93976800-93990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:93976800-93990800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:93976800-94025000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:93977000-93990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:93977000-93993600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:93977200-93982600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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