Variant report

Variant	rs73237297
Chromosome Location	chr5:118691121-118691122
allele	A/C/G/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	chr5:118688526-118696061	GM12878	blood:	n/a	n/a
2	HA-E2F1	chr5:118690803-118691952	MCF-7	breast:	n/a	chr5:118691641-118691653 chr5:118690878-118690887
3	POLR2A	chr5:118690622-118693443	GM19193	blood:	n/a	n/a
4	CEBPB	chr5:118690985-118691271	HepG2	liver:	n/a	n/a
5	MTA3	chr5:118691072-118692474	GM12878	blood:	n/a	n/a
6	JUN	chr5:118691004-118691168	H1-hESC	embryonic stem cell:	n/a	n/a
7	RELA	chr5:118690557-118694108	GM12891	blood:	n/a	n/a
8	TBP	chr5:118689422-118692594	GM12878	blood:	n/a	n/a
9	MYC	chr5:118690875-118691156	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr5:118691113-118691606	NB4	blood:	n/a	n/a
11	TAF1	chr5:118690920-118691168	GM12892	blood:	n/a	n/a
12	MAZ	chr5:118690555-118692953	IMR90	lung:	n/a	chr5:118692461-118692472
13	SMC3	chr5:118690998-118691157	Hela-S3	cervix:	n/a	n/a
14	PML	chr5:118690397-118693186	GM12878	blood:	n/a	chr5:118692075-118692083
15	POU2F2	chr5:118690744-118691203	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:118690288-118692832	GM12892	blood:	n/a	n/a
17	NFATC1	chr5:118690799-118691972	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:118690266-118692633	GM12892	blood:	n/a	n/a
19	FOS	chr5:118690908-118691275	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:118690639-118692349	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:118690511-118692628	GM12892	blood:	n/a	n/a
22	TCF7L2	chr5:118690919-118691287	Hela-S3	cervix:	n/a	n/a
23	RELA	chr5:118690644-118693165	GM10847	blood:	n/a	n/a
24	TCF7L2	chr5:118690889-118691452	MCF-7	breast:	n/a	n/a
25	CHD1	chr5:118688941-118694425	GM12878	blood:	n/a	n/a
26	JUND	chr5:118690972-118691901	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOXM1	chr5:118690381-118691171	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:118690468-118692879	GM18526	blood:	n/a	n/a
29	SMARCC1	chr5:118690685-118691660	Hela-S3	cervix:	n/a	n/a
30	MYC	chr5:118690910-118691338	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:118689028-118697007	GM18505	blood:	n/a	n/a
32	CHD1	chr5:118691060-118691749	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:118689433-118694184	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:118688841-118700411	GM12891	blood:	n/a	n/a
35	POLR2A	chr5:118690578-118692276	GM12891	blood:	n/a	n/a
36	POLR2A	chr5:118690529-118692929	GM12878	blood:	n/a	n/a
37	HDAC2	chr5:118690779-118691264	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:118690750-118691213	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:118689446-118694162	GM19099	blood:	n/a	n/a
40	POLR2A	chr5:118690538-118691990	GM12892	blood:	n/a	n/a
41	FOS	chr5:118690851-118691235	MCF10A-Er-Src	breast:	n/a	n/a
42	FOXM1	chr5:118690494-118692880	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:118690659-118691201	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:118689533-118692735	GM18951	blood:	n/a	n/a
45	SIN3A	chr5:118690977-118692192	H1-hESC	embryonic stem cell:	n/a	chr5:118691638-118691649
46	CTBP2	chr5:118690783-118692169	H1-hESC	embryonic stem cell:	n/a	n/a
47	EBF1	chr5:118690736-118692045	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:118690931-118691128	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr5:118690744-118692293	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr5:118690625-118691127	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TNFAIP8	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10059175	0.85[ASN][1000 genomes]
rs11957102	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1396609	0.92[ASN][1000 genomes]
rs17145230	0.82[EUR][1000 genomes]
rs17145248	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17145265	0.87[ASN][1000 genomes]
rs17145294	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17385413	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3797340	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3797341	0.98[ASN][1000 genomes]
rs3797342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3797343	0.98[ASN][1000 genomes]
rs6864305	0.94[ASN][1000 genomes]
rs6869512	0.94[ASN][1000 genomes]
rs6870253	0.85[ASN][1000 genomes]
rs6876224	0.92[ASN][1000 genomes]
rs6877025	0.91[ASN][1000 genomes]
rs6878879	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6883657	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6884061	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6891084	0.85[ASN][1000 genomes]
rs6896277	0.86[ASN][1000 genomes]
rs6896553	0.86[ASN][1000 genomes]
rs6896559	0.86[ASN][1000 genomes]
rs73237292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239278	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73239280	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703408	0.90[EUR][1000 genomes]
rs7707470	0.90[ASN][1000 genomes]
rs7731632	0.90[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	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118671200-118695400	Weak transcription	A549	lung
2	chr5:118676800-118691400	Weak transcription	Lung	lung
3	chr5:118682600-118693600	Weak transcription	Dnd41	blood
4	chr5:118684000-118692800	Weak transcription	K562	blood
5	chr5:118688600-118691200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:118688800-118691400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:118689000-118691200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:118689000-118691200	Enhancers	Placenta	Placenta
9	chr5:118689000-118691200	Enhancers	NHDF-Ad	bronchial
10	chr5:118689000-118691400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:118689200-118691200	Enhancers	Fetal Heart	heart
12	chr5:118689400-118691200	Enhancers	Fetal Thymus	thymus
13	chr5:118689400-118691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:118689600-118691200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:118689600-118692000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr5:118689800-118691200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:118689800-118691200	Enhancers	Fetal Lung	lung
18	chr5:118690000-118691200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:118690000-118691400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr5:118690000-118691600	Weak transcription	Gastric	stomach
21	chr5:118690400-118691400	Enhancers	Stomach Mucosa	stomach
22	chr5:118690400-118691400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:118690400-118692600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr5:118690600-118691200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118690600-118691200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:118690600-118691200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:118690600-118691200	Enhancers	Liver	Liver
28	chr5:118690600-118691200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr5:118690600-118691200	Weak transcription	Fetal Kidney	kidney
30	chr5:118690600-118691200	Enhancers	Fetal Muscle Leg	muscle
31	chr5:118690600-118691200	Enhancers	Left Ventricle	heart
32	chr5:118690600-118691200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:118690600-118691200	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:118690600-118691200	Flanking Active TSS	Hela-S3	cervix
35	chr5:118690600-118691200	Enhancers	NHLF	lung
36	chr5:118690600-118691400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr5:118690600-118691400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr5:118690600-118691400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:118690600-118691400	Enhancers	Pancreas	Pancrea
40	chr5:118690600-118691800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:118690600-118691800	Active TSS	HepG2	liver
42	chr5:118690600-118692000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:118690600-118692400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:118690600-118693200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr5:118690600-118693400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:118690800-118691200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:118690800-118691200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:118690800-118691200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:118690800-118691200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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