Variant report

Variant	rs216397
Chromosome Location	chr5:37297019-37297020
allele	C/T
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	chr5:37296915-37297088	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37296733..37298868-chr5:37344772..37346341,2	K562	blood:

Variant related genes	Relation type
NUP155	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056350	1.00[AMR][1000 genomes]
rs10941328	1.00[AMR][1000 genomes]
rs10941335	1.00[AMR][1000 genomes]
rs10941342	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]
rs216390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216391	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]
rs2176477	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]
rs7710108	1.00[AMR][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37285600-37298000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:37287000-37298800	Weak transcription	Fetal Brain Male	brain
3	chr5:37287200-37297400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:37287800-37297600	Weak transcription	Aorta	Aorta
5	chr5:37287800-37304600	Weak transcription	Fetal Heart	heart
6	chr5:37288000-37298800	Weak transcription	Brain Angular Gyrus	brain
7	chr5:37288200-37320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:37288800-37301200	Weak transcription	Colonic Mucosa	Colon
9	chr5:37289000-37300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:37289200-37297400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:37289200-37297400	Weak transcription	NHEK	skin
13	chr5:37289200-37297600	Weak transcription	Right Ventricle	heart
14	chr5:37289200-37297600	Weak transcription	Small Intestine	intestine
15	chr5:37289200-37298400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:37289400-37299400	Weak transcription	Spleen	Spleen
17	chr5:37289400-37300600	Weak transcription	Brain Anterior Caudate	brain
18	chr5:37289400-37310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:37289600-37298200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:37289800-37298000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:37289800-37323600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:37290000-37297600	Weak transcription	Psoas Muscle	Psoas
23	chr5:37290000-37298600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:37290600-37298800	Weak transcription	HSMMtube	muscle
25	chr5:37291000-37297400	Weak transcription	Esophagus	oesophagus
26	chr5:37291400-37298200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:37291400-37298400	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:37291400-37298800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:37291400-37301200	Weak transcription	NHLF	lung
30	chr5:37291600-37297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:37291600-37297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:37291600-37300800	Weak transcription	Pancreas	Pancrea
33	chr5:37292200-37297200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:37292200-37297400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:37292400-37297400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:37292400-37298600	Weak transcription	HepG2	liver
37	chr5:37292600-37301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:37292800-37297200	Weak transcription	Fetal Lung	lung
39	chr5:37292800-37298600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:37293000-37297400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:37293000-37298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:37293200-37297200	Weak transcription	HMEC	breast
43	chr5:37293200-37297400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:37293200-37297400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:37293200-37297400	Weak transcription	HUVEC	blood vessel
46	chr5:37293200-37298400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr5:37293600-37297200	Weak transcription	Primary B cells from cord blood	blood
48	chr5:37293600-37297200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:37293600-37297200	Weak transcription	NH-A	brain
50	chr5:37293600-37297600	Weak transcription	Rectal Mucosa Donor 31	rectum

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