Variant report

Variant	rs434130
Chromosome Location	chr5:80279422-80279423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80278839..80280543-chr5:80284483..80286829,2	K562	blood:
2	chr5:80267901..80270564-chr5:80277516..80279605,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHFR-6	chr5:80279307-80279569	l_2955_chr5:80279306-80283064_testes

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs371612	0.91[ASN][1000 genomes]
rs371813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs401758	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs444937	0.98[ASN][1000 genomes]
rs494039	0.80[ASN][1000 genomes]
rs500676	0.83[ASN][1000 genomes]
rs541624	0.84[ASN][1000 genomes]
rs546846	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564543	0.82[AMR][1000 genomes];0.91[EUR][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	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	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
4	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
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80268600-80281600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:80269400-80281400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:80269600-80281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:80269800-80285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:80270000-80284200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:80270200-80281400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:80271000-80282400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:80271200-80282400	Weak transcription	Brain Angular Gyrus	brain
9	chr5:80272800-80281400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:80272800-80281600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:80272800-80281600	Weak transcription	Right Atrium	heart
12	chr5:80273000-80281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80273200-80283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:80273600-80282600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:80274800-80281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:80275400-80283000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:80275800-80282000	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:80276800-80281400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:80277200-80281000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:80277400-80281400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:80277400-80281400	Weak transcription	HepG2	liver
22	chr5:80277400-80282000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:80277600-80287000	Weak transcription	Right Ventricle	heart
24	chr5:80277800-80281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:80277800-80282800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:80278000-80281200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:80278000-80293000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:80278200-80281400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:80278200-80281400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:80279000-80279600	Enhancers	Spleen	Spleen
31	chr5:80279400-80280200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:80279400-80281600	Weak transcription	Left Ventricle	heart

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