Variant report

Variant	rs74015509
Chromosome Location	chr16:31366365-31366366
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	chr16:31366158-31366727	U87	brain:	n/a	n/a
2	SIN3A	chr16:31366113-31366565	GM12878	blood:	n/a	n/a
3	FOXP2	chr16:31366232-31366586	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr16:31366201-31366759	HL-60	blood:	n/a	n/a
5	NFIC	chr16:31365717-31366653	GM12878	blood:	n/a	chr16:31366221-31366237
6	FOXM1	chr16:31365886-31366466	GM12878	blood:	n/a	n/a
7	EBF1	chr16:31365728-31366431	GM12878	blood:	n/a	n/a
8	BATF	chr16:31366208-31366628	GM12878	blood:	n/a	n/a
9	CHD2	chr16:31366312-31366536	GM12878	blood:	n/a	chr16:31366435-31366445
10	POLR2A	chr16:31366353-31366556	GM12878	blood:	n/a	n/a
11	RCOR1	chr16:31365869-31366568	GM12878	blood:	n/a	n/a
12	FOS	chr16:31366275-31366535	MCF10A-Er-Src	breast:	n/a	chr16:31366449-31366460 chr16:31366448-31366456 chr16:31366446-31366457 chr16:31366451-31366458 chr16:31366446-31366458 chr16:31366446-31366457
13	EGR1	chr16:31366296-31366540	GM12878	blood:	n/a	chr16:31366387-31366397 chr16:31366385-31366399 chr16:31366384-31366397 chr16:31366435-31366449 chr16:31366438-31366451 chr16:31366438-31366451
14	POLR2A	chr16:31365616-31366714	GM12878	blood:	n/a	n/a
15	FOSL2	chr16:31366305-31366569	HepG2	liver:	n/a	chr16:31366449-31366460 chr16:31366448-31366456 chr16:31366446-31366457 chr16:31366451-31366458 chr16:31366446-31366458
16	FOSL1	chr16:31366291-31366577	K562	blood:	n/a	chr16:31366449-31366460 chr16:31366448-31366456 chr16:31366446-31366457 chr16:31366451-31366458 chr16:31366446-31366458 chr16:31366446-31366457
17	POU2F2	chr16:31366175-31366532	GM12878	blood:	n/a	chr16:31366383-31366395 chr16:31366321-31366328 chr16:31366318-31366332
18	EP300	chr16:31365796-31366523	GM12878	blood:	n/a	n/a
19	EP300	chr16:31366252-31366537	K562	blood:	n/a	n/a
20	POLR2A	chr16:31366205-31366723	GM12892	blood:	n/a	n/a
21	HMGN3	chr16:31366300-31366525	K562	blood:	n/a	n/a
22	POU2F2	chr16:31365638-31366625	GM12878	blood:	n/a	chr16:31366383-31366395 chr16:31366321-31366328 chr16:31366318-31366332
23	EBF1	chr16:31366126-31366637	GM12878	blood:	n/a	n/a
24	EGR1	chr16:31366226-31366545	K562	blood:	n/a	chr16:31366387-31366397 chr16:31366385-31366399 chr16:31366384-31366397 chr16:31366435-31366449 chr16:31366438-31366451 chr16:31366438-31366451
25	POLR2A	chr16:31365613-31366715	GM19193	blood:	n/a	n/a
26	ELF1	chr16:31366346-31366631	K562	blood:	n/a	chr16:31366523-31366536
27	FOXM1	chr16:31365646-31366560	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:31366306-31366630	GM12891	blood:	n/a	n/a
29	EP300	chr16:31365662-31366639	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:31366359-31366675	GM12892	blood:	n/a	n/a
31	POLR2A	chr16:31366365-31366640	GM12878	blood:	n/a	n/a
32	FOSL1	chr16:31366189-31366644	K562	blood:	n/a	chr16:31366449-31366460 chr16:31366448-31366456 chr16:31366446-31366457 chr16:31366451-31366458 chr16:31366446-31366458 chr16:31366446-31366457
33	ELF1	chr16:31365638-31366792	GM12878	blood:	n/a	chr16:31366523-31366536
34	BHLHE40	chr16:31366209-31366562	K562	blood:	n/a	n/a
35	RUNX3	chr16:31365590-31366665	GM12878	blood:	n/a	chr16:31366004-31366013 chr16:31365998-31366013 chr16:31366004-31366013
36	POLR2A	chr16:31366324-31366649	HCT-116	colon:	n/a	n/a
37	POLR2A	chr16:31366277-31366671	U87	brain:	n/a	n/a
38	POLR2A	chr16:31366225-31366727	U87	brain:	n/a	n/a
39	POLR2A	chr16:31366311-31366671	U87	brain:	n/a	n/a
40	MAZ	chr16:31365795-31366608	GM12878	blood:	n/a	chr16:31366438-31366448 chr16:31366448-31366457
41	POLR2A	chr16:31366299-31366595	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:31365584-31366825	GM12892	blood:	n/a	n/a
43	TBL1XR1	chr16:31365688-31366582	GM12878	blood:	n/a	n/a
44	STAT5A	chr16:31365557-31366820	GM12878	blood:	n/a	chr16:31366303-31366315 chr16:31366308-31366320 chr16:31366467-31366479 chr16:31366433-31366445
45	RELA	chr16:31365732-31366569	GM19193	blood:	n/a	n/a
46	PAX5	chr16:31365642-31366695	GM12878	blood:	n/a	n/a
47	RUNX3	chr16:31365632-31366698	GM12878	blood:	n/a	chr16:31366004-31366013 chr16:31365998-31366013 chr16:31366004-31366013
48	ARID3A	chr16:31366319-31366447	K562	blood:	n/a	n/a
49	POLR2A	chr16:31365600-31366740	GM18505	blood:	n/a	n/a
50	USF2	chr16:31365727-31366518	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31190068..31192732-chr16:31364834..31366748,2	MCF-7	breast:
2	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:
3	chr16:31191175..31193131-chr16:31364382..31367193,2	K562	blood:

Variant related genes	Relation type
ITGAX	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000140678	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11574629	0.89[AMR][1000 genomes]
rs59668899	0.89[AMR][1000 genomes]
rs61175519	0.89[AMR][1000 genomes]
rs7192505	0.89[AMR][1000 genomes]
rs7198540	0.89[AMR][1000 genomes]
rs74015510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045402	0.89[AMR][1000 genomes]
rs8045430	0.89[AMR][1000 genomes]
rs8056264	0.89[AMR][1000 genomes]
rs8058958	0.89[AMR][1000 genomes]
rs8060548	0.89[AMR][1000 genomes]
rs8063024	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31358600-31366400	Enhancers	Primary B cells from peripheral blood	blood
3	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
5	chr16:31364200-31366800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:31364200-31367400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:31364400-31370200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:31365200-31366800	Enhancers	Fetal Thymus	thymus
9	chr16:31365600-31366400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr16:31365600-31366600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:31365600-31366600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:31365600-31366600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:31365600-31366800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr16:31365600-31366800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr16:31365600-31366800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr16:31365600-31367000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31365600-31367000	Flanking Active TSS	GM12878-XiMat	blood
18	chr16:31365600-31367200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:31365600-31367200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr16:31365600-31368000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr16:31365600-31368600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr16:31365600-31369200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:31365600-31369800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:31365800-31366600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:31365800-31366600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:31365800-31366600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:31365800-31366800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr16:31365800-31366800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:31365800-31366800	Enhancers	K562	blood
30	chr16:31365800-31367200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr16:31365800-31367800	Enhancers	Spleen	Spleen
32	chr16:31366000-31366400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr16:31366000-31366400	Enhancers	Lung	lung
34	chr16:31366000-31366800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:31366000-31366800	Enhancers	A549	lung
36	chr16:31366000-31367200	Bivalent Enhancer	Placenta	Placenta
37	chr16:31366000-31368800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr16:31366200-31366400	Enhancers	Primary hematopoietic stem cells	blood
39	chr16:31366200-31366600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr16:31366200-31366600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr16:31366200-31366600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:31366200-31366600	Enhancers	Pancreas	Pancrea
43	chr16:31366200-31366600	Enhancers	HSMM	muscle
44	chr16:31366200-31366600	Enhancers	NHEK	skin
45	chr16:31366200-31366800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:31366200-31366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:31366200-31366800	Enhancers	Fetal Muscle Trunk	muscle
48	chr16:31366200-31366800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr16:31366200-31366800	Enhancers	HUVEC	blood vessel
50	chr16:31366200-31367000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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