Variant report

Variant	rs216390
Chromosome Location	chr5:37291452-37291453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:37290696-37291463	K562	blood:	n/a	n/a
2	POLR2A	chr5:37291273-37291453	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:37289260-37291474	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270558	TF binding region
ENSG00000197603	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10056350	1.00[AMR][1000 genomes]
rs10941328	1.00[AMR][1000 genomes]
rs10941335	1.00[AMR][1000 genomes]
rs125684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13176630	1.00[AMR][1000 genomes]
rs150619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1589115	1.00[AMR][1000 genomes]
rs177811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1829291	1.00[AMR][1000 genomes]
rs2056872	1.00[AMR][1000 genomes]
rs216372	0.92[AFR][1000 genomes]
rs216373	0.91[AFR][1000 genomes]
rs216374	0.88[AFR][1000 genomes]
rs216375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216381	1.00[AFR][1000 genomes]
rs216382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216384	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217773	0.92[AFR][1000 genomes]
rs217774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217783	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217816	0.96[AFR][1000 genomes]
rs217824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217852	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217853	0.91[AFR][1000 genomes]
rs217854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366173	1.00[AMR][1000 genomes]
rs2548041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886592	1.00[AMR][1000 genomes]
rs4298274	1.00[AMR][1000 genomes]
rs4869500	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869502	1.00[AMR][1000 genomes]
rs4869510	1.00[AMR][1000 genomes]
rs53429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55848769	1.00[AMR][1000 genomes]
rs56401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59948566	1.00[AMR][1000 genomes]
rs61739227	0.85[AFR][1000 genomes]
rs6451315	1.00[AMR][1000 genomes]
rs6889826	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890019	1.00[AMR][1000 genomes]
rs73749012	1.00[AMR][1000 genomes]
rs73749051	1.00[AMR][1000 genomes]
rs73750958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750959	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7706007	0.85[AFR][1000 genomes]
rs7715310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723593	0.81[AFR][1000 genomes]
rs7729149	1.00[AMR][1000 genomes]
rs9292654	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
15	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
16	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	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
22	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv328371	chr5:37288871-37294107	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37285400-37297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:37285600-37298000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:37287000-37296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:37287000-37298800	Weak transcription	Fetal Brain Male	brain
5	chr5:37287200-37296800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:37287200-37297400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:37287400-37296400	Weak transcription	Brain Germinal Matrix	brain
8	chr5:37287800-37297600	Weak transcription	Aorta	Aorta
9	chr5:37287800-37304600	Weak transcription	Fetal Heart	heart
10	chr5:37288000-37298800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:37288200-37295400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:37288200-37320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:37288400-37294800	Strong transcription	Dnd41	blood
14	chr5:37288600-37292800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:37288800-37291800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:37288800-37297000	Weak transcription	Lung	lung
17	chr5:37288800-37301200	Weak transcription	Colonic Mucosa	Colon
18	chr5:37289000-37291600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:37289000-37291800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:37289000-37293200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:37289000-37295000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:37289000-37300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:37289200-37292200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:37289200-37292200	Strong transcription	Thymus	Thymus
26	chr5:37289200-37292400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:37289200-37292600	Strong transcription	Left Ventricle	heart
28	chr5:37289200-37293200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:37289200-37293800	Strong transcription	A549	lung
30	chr5:37289200-37293800	Strong transcription	K562	blood
31	chr5:37289200-37294600	Strong transcription	HSMM	muscle
32	chr5:37289200-37294800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:37289200-37295200	Strong transcription	Fetal Thymus	thymus
34	chr5:37289200-37295400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:37289200-37297400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:37289200-37297400	Weak transcription	NHEK	skin
37	chr5:37289200-37297600	Weak transcription	Right Ventricle	heart
38	chr5:37289200-37297600	Weak transcription	Small Intestine	intestine
39	chr5:37289200-37298400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:37289400-37291600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:37289400-37292200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:37289400-37292400	Strong transcription	Fetal Muscle Leg	muscle
43	chr5:37289400-37292400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:37289400-37293200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:37289400-37293200	Strong transcription	HMEC	breast
46	chr5:37289400-37294600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:37289400-37295000	Strong transcription	Hela-S3	cervix
48	chr5:37289400-37295200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:37289400-37295200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:37289400-37295200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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