Variant report

Variant	rs9292654
Chromosome Location	chr5:37427760-37427761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10056350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941328	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941342	1.00[AMR][1000 genomes]
rs125684	1.00[AMR][1000 genomes]
rs13176630	1.00[AMR][1000 genomes]
rs150619	1.00[AMR][1000 genomes]
rs150620	1.00[AMR][1000 genomes]
rs150622	1.00[AMR][1000 genomes]
rs1589115	1.00[AMR][1000 genomes]
rs177811	1.00[AMR][1000 genomes]
rs1829291	1.00[AMR][1000 genomes]
rs2056872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216375	1.00[AMR][1000 genomes]
rs216376	1.00[AMR][1000 genomes]
rs216378	1.00[AMR][1000 genomes]
rs216379	1.00[AMR][1000 genomes]
rs216382	1.00[AMR][1000 genomes]
rs216383	1.00[AMR][1000 genomes]
rs216384	1.00[AMR][1000 genomes]
rs216390	1.00[AMR][1000 genomes]
rs216391	1.00[AMR][1000 genomes]
rs216397	1.00[AMR][1000 genomes]
rs216399	1.00[AMR][1000 genomes]
rs216400	1.00[AMR][1000 genomes]
rs216401	1.00[AMR][1000 genomes]
rs2176477	1.00[AMR][1000 genomes]
rs217774	1.00[AMR][1000 genomes]
rs217775	1.00[AMR][1000 genomes]
rs217779	1.00[AMR][1000 genomes]
rs217782	1.00[AMR][1000 genomes]
rs217783	1.00[AMR][1000 genomes]
rs217784	1.00[AMR][1000 genomes]
rs217785	1.00[AMR][1000 genomes]
rs217786	1.00[AMR][1000 genomes]
rs217791	1.00[AMR][1000 genomes]
rs217792	1.00[AMR][1000 genomes]
rs217796	1.00[AMR][1000 genomes]
rs217798	1.00[AMR][1000 genomes]
rs217800	1.00[AMR][1000 genomes]
rs217801	1.00[AMR][1000 genomes]
rs217815	1.00[AMR][1000 genomes]
rs217824	1.00[AMR][1000 genomes]
rs217839	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217852	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217853	0.81[AFR][1000 genomes]
rs217854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2548041	1.00[AMR][1000 genomes]
rs2886592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4298274	1.00[AMR][1000 genomes]
rs485536	1.00[AMR][1000 genomes]
rs4869500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs490035	1.00[AMR][1000 genomes]
rs53429	1.00[AMR][1000 genomes]
rs55848769	1.00[AMR][1000 genomes]
rs56401	1.00[AMR][1000 genomes]
rs56402	1.00[AMR][1000 genomes]
rs573498	1.00[AMR][1000 genomes]
rs577128	1.00[AMR][1000 genomes]
rs594478	1.00[AMR][1000 genomes]
rs59948566	1.00[AMR][1000 genomes]
rs6451315	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs661097	1.00[AMR][1000 genomes]
rs681028	1.00[AMR][1000 genomes]
rs6872613	1.00[EUR][1000 genomes]
rs6889826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749012	1.00[AMR][1000 genomes]
rs73749051	1.00[AMR][1000 genomes]
rs73749064	1.00[AMR][1000 genomes]
rs73750958	1.00[AMR][1000 genomes]
rs73750959	1.00[AMR][1000 genomes]
rs7710108	1.00[AMR][1000 genomes]
rs7715310	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723593	0.87[AFR][1000 genomes]
rs7729149	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
13	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
31	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37379800-37434200	Weak transcription	Small Intestine	intestine
2	chr5:37379800-37444400	Weak transcription	Gastric	stomach
3	chr5:37380000-37427800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:37380000-37428200	Weak transcription	Stomach Mucosa	stomach
5	chr5:37380000-37443400	Weak transcription	Colonic Mucosa	Colon
6	chr5:37380200-37432600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:37380200-37435000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:37380200-37446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:37380200-37446800	Weak transcription	Fetal Brain Male	brain
10	chr5:37380200-37451200	Weak transcription	Right Ventricle	heart
11	chr5:37380400-37434800	Weak transcription	NHLF	lung
12	chr5:37390200-37428600	Weak transcription	HMEC	breast
13	chr5:37393200-37451400	Weak transcription	Pancreas	Pancrea
14	chr5:37394800-37431800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:37395000-37428800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:37395400-37447000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:37396200-37429000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:37396800-37454600	Weak transcription	A549	lung
19	chr5:37397200-37446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:37401000-37436200	Weak transcription	K562	blood
21	chr5:37401000-37454000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:37401200-37428400	Weak transcription	Psoas Muscle	Psoas
23	chr5:37401200-37452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:37401400-37436000	Weak transcription	GM12878-XiMat	blood
25	chr5:37406200-37451800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:37406400-37446800	Weak transcription	Brain Substantia Nigra	brain
27	chr5:37406600-37451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:37406800-37444600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:37406800-37451600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:37409600-37434800	Weak transcription	HepG2	liver
31	chr5:37410600-37471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:37410800-37431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:37410800-37435000	Weak transcription	NH-A	brain
34	chr5:37411400-37433200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:37411600-37431400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:37413000-37457400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:37417400-37428200	Weak transcription	NHEK	skin
38	chr5:37418000-37457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:37418200-37433600	Weak transcription	Primary B cells from cord blood	blood
40	chr5:37418200-37444000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:37418200-37444400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:37418200-37460000	Weak transcription	Brain Angular Gyrus	brain
43	chr5:37418600-37443200	Weak transcription	Dnd41	blood
44	chr5:37419200-37438000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:37419200-37444800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:37419400-37454000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:37419600-37428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:37420600-37434800	Weak transcription	Osteobl	bone
49	chr5:37420800-37434800	Weak transcription	Hela-S3	cervix
50	chr5:37420800-37480200	Weak transcription	Brain Hippocampus Middle	brain

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