Variant report

Variant	rs7705816
Chromosome Location	chr5:80191800-80191801
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	chr5:80187844..80190265-chr5:80191742..80193498,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11950254	0.82[ASN][1000 genomes]
rs12515222	0.86[ASN][1000 genomes]
rs12515548	0.80[ASN][1000 genomes]
rs12518711	0.80[ASN][1000 genomes]
rs12521191	0.84[ASN][1000 genomes]
rs12521371	0.85[ASN][1000 genomes]
rs12521539	0.80[ASN][1000 genomes]
rs12522132	0.80[ASN][1000 genomes]
rs12522866	0.84[ASN][1000 genomes]
rs13165877	0.92[ASN][1000 genomes]
rs13168327	0.85[ASN][1000 genomes]
rs13178429	0.87[ASN][1000 genomes]
rs13186354	0.80[ASN][1000 genomes]
rs1679115	0.84[EUR][1000 genomes]
rs168653	0.84[EUR][1000 genomes]
rs2112415	0.93[ASN][1000 genomes]
rs245340	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs245341	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs245348	0.84[EUR][1000 genomes]
rs245355	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs245356	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs245357	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs245360	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs245372	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs245373	0.84[EUR][1000 genomes]
rs245374	0.84[EUR][1000 genomes]
rs245379	0.82[EUR][1000 genomes]
rs245380	0.83[EUR][1000 genomes]
rs245385	0.84[EUR][1000 genomes]
rs245386	0.82[EUR][1000 genomes]
rs245389	0.81[EUR][1000 genomes]
rs26278	0.86[EUR][1000 genomes]
rs26279	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27366	0.84[EUR][1000 genomes]
rs27494	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27887	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2897298	0.80[ASN][1000 genomes]
rs32963	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32964	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32967	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32968	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32988	0.84[EUR][1000 genomes]
rs32989	0.84[EUR][1000 genomes]
rs32999	0.81[EUR][1000 genomes]
rs34205517	0.80[ASN][1000 genomes]
rs34274010	0.80[ASN][1000 genomes]
rs34799825	0.80[ASN][1000 genomes]
rs34816304	0.82[ASN][1000 genomes]
rs34829384	0.85[ASN][1000 genomes]
rs34976588	0.80[ASN][1000 genomes]
rs35109637	0.87[ASN][1000 genomes]
rs35856198	0.80[ASN][1000 genomes]
rs35889396	0.92[ASN][1000 genomes]
rs36160284	0.80[ASN][1000 genomes]
rs39626	0.84[EUR][1000 genomes]
rs40591	0.84[EUR][1000 genomes]
rs55661202	0.85[ASN][1000 genomes]
rs58825743	0.86[ASN][1000 genomes]
rs59360125	0.87[ASN][1000 genomes]
rs59568430	0.87[ASN][1000 genomes]
rs6151919	0.85[ASN][1000 genomes]
rs6151923	0.85[ASN][1000 genomes]
rs67240890	0.84[ASN][1000 genomes]
rs6874051	0.85[ASN][1000 genomes]
rs6877065	0.80[ASN][1000 genomes]
rs6891635	0.84[ASN][1000 genomes]
rs71636248	0.93[ASN][1000 genomes]
rs72767323	0.87[ASN][1000 genomes]
rs72767330	0.85[ASN][1000 genomes]
rs7717404	0.85[ASN][1000 genomes]
rs7737445	0.85[ASN][1000 genomes]
rs9293824	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1799323	chr5:80179312-80219650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7705816	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
2	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:80174000-80197000	Weak transcription	Left Ventricle	heart
4	chr5:80174200-80192000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:80180400-80215000	Weak transcription	Fetal Kidney	kidney
6	chr5:80181600-80193200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:80184200-80191800	Weak transcription	Gastric	stomach
8	chr5:80187000-80197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:80187200-80192000	Weak transcription	Fetal Stomach	stomach
10	chr5:80187200-80193400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:80187200-80194000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:80187200-80196400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:80187200-80197000	Weak transcription	Liver	Liver
14	chr5:80187200-80197200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:80187400-80196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:80187400-80197000	Weak transcription	Aorta	Aorta
17	chr5:80187400-80197000	Weak transcription	Thymus	Thymus
18	chr5:80187400-80197200	Weak transcription	Pancreas	Pancrea
19	chr5:80190000-80197000	Weak transcription	Primary T cells from cord blood	blood

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