Variant report

Variant	rs4703823
Chromosome Location	chr5:80413704-80413705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13170314	1.00[ASN][1000 genomes]
rs13187343	1.00[ASN][1000 genomes]
rs17210066	1.00[ASN][1000 genomes]
rs17211275	1.00[ASN][1000 genomes]
rs34207428	0.80[AMR][1000 genomes]
rs36084289	1.00[ASN][1000 genomes]
rs4704698	1.00[ASN][1000 genomes]
rs4704701	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6869328	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv882232	chr5:80393949-80436584	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80383400-80414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:80394000-80417000	Weak transcription	NHLF	lung
5	chr5:80401000-80417600	Weak transcription	Brain Angular Gyrus	brain
6	chr5:80401600-80421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:80401800-80420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:80401800-80420600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:80404400-80417600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:80404800-80428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:80406200-80417400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:80406400-80415600	Weak transcription	Spleen	Spleen
13	chr5:80406600-80417800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:80406800-80417400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:80407000-80428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:80408400-80415600	Strong transcription	HepG2	liver
17	chr5:80408400-80418400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:80408800-80426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:80409800-80422600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:80410200-80413800	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:80410200-80417800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:80410600-80414600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:80410600-80416800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:80410600-80419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:80410600-80421600	Weak transcription	Brain Substantia Nigra	brain
26	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:80410800-80416000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:80411200-80427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:80411800-80413800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:80411800-80421800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:80412400-80414400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:80412600-80415200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:80413000-80414600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:80413400-80414600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:80413400-80424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:80413600-80414400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:80413600-80415600	Strong transcription	Ovary	ovary
39	chr5:80413600-80416400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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