Variant report

Variant	rs153230
Chromosome Location	chr5:80415132-80415133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs153229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153231	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153232	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153233	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs153234	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs153235	0.92[ASN][1000 genomes]
rs153236	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs153237	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs153238	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs153239	0.94[ASN][1000 genomes]
rs153240	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153241	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153242	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153243	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153244	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168718	0.82[ASN][1000 genomes]
rs17213885	0.81[ASN][1000 genomes]
rs173596	0.90[ASN][1000 genomes]
rs190339	0.88[ASN][1000 genomes]
rs193786	0.85[ASN][1000 genomes]
rs2454870	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248980	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248981	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248982	0.90[ASN][1000 genomes]
rs248983	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248984	0.90[ASN][1000 genomes]
rs248985	0.90[ASN][1000 genomes]
rs248986	0.90[ASN][1000 genomes]
rs248987	0.82[ASN][1000 genomes]
rs248988	0.85[ASN][1000 genomes]
rs248989	0.85[ASN][1000 genomes]
rs26889	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26890	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26891	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26892	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26893	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26894	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26895	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26896	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26898	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27558	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27781	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28820	0.81[ASN][1000 genomes]
rs34115	0.85[ASN][1000 genomes]
rs34117	0.82[ASN][1000 genomes]
rs34120	0.85[ASN][1000 genomes]
rs34121	0.85[ASN][1000 genomes]
rs34122	0.84[ASN][1000 genomes]
rs382926	0.90[ASN][1000 genomes]
rs40046	0.85[ASN][1000 genomes]
rs457365	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs466044	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs58200570	0.83[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:80394000-80417000	Weak transcription	NHLF	lung
4	chr5:80401000-80417600	Weak transcription	Brain Angular Gyrus	brain
5	chr5:80401600-80421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:80401800-80420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80401800-80420600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:80404400-80417600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:80404800-80428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:80406200-80417400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:80406400-80415600	Weak transcription	Spleen	Spleen
12	chr5:80406600-80417800	Strong transcription	Primary T cells from cord blood	blood
13	chr5:80406800-80417400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:80407000-80428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:80408400-80415600	Strong transcription	HepG2	liver
16	chr5:80408400-80418400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:80408800-80426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:80409800-80422600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:80410200-80417800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:80410600-80416800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:80410600-80419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:80410600-80421600	Weak transcription	Brain Substantia Nigra	brain
23	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:80410800-80416000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:80411200-80427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:80411800-80421800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:80412600-80415200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:80413400-80424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:80413600-80415600	Strong transcription	Ovary	ovary
31	chr5:80413600-80416400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:80414000-80416600	Weak transcription	Fetal Brain Female	brain
33	chr5:80414000-80421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:80414200-80417200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:80414400-80415400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:80414400-80416800	Weak transcription	Fetal Brain Male	brain
38	chr5:80414400-80417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:80414600-80415400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:80414600-80417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:80414600-80417800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:80414800-80415600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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