Variant report

Variant	rs2516294
Chromosome Location	chr5:179247747-179247748
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	chr5:179245684-179255371	K562	blood:	n/a	n/a
2	MAX	chr5:179247637-179248191	GM12878	blood:	n/a	chr5:179247807-179247817
3	MAX	chr5:179245573-179249061	ECC-1	luminal epithelium:	n/a	chr5:179246557-179246568 chr5:179246558-179246568 chr5:179246557-179246568 chr5:179246557-179246567 chr5:179246556-179246569 chr5:179246328-179246338 chr5:179246557-179246567 chr5:179246558-179246568 chr5:179246556-179246569 chr5:179246556-179246569 chr5:179246211-179246220 chr5:179246557-179246568 chr5:179247807-179247817 chr5:179246553-179246572 chr5:179246558-179246567 chr5:179247553-179247562
4	POLR2A	chr5:179245036-179249094	K562	blood:	n/a	n/a
5	YY1	chr5:179247607-179248405	GM12878	blood:	n/a	chr5:179247809-179247818 chr5:179248158-179248169 chr5:179247812-179247821 chr5:179248160-179248169
6	POLR2A	chr5:179245250-179250058	GM12878	blood:	n/a	n/a
7	TCF12	chr5:179247206-179248123	A549	lung:	n/a	n/a
8	USF1	chr5:179247633-179248206	ECC-1	luminal epithelium:	n/a	chr5:179248154-179248170
9	MXI1	chr5:179247428-179249092	Hela-S3	cervix:	n/a	n/a
10	SMARCB1	chr5:179245170-179249011	Hela-S3	cervix:	n/a	chr5:179246108-179246117 chr5:179246586-179246595
11	BCL3	chr5:179245033-179248254	A549	lung:	n/a	chr5:179248153-179248166 chr5:179246322-179246335 chr5:179248150-179248163 chr5:179246136-179246145 chr5:179245888-179245901 chr5:179246140-179246153 chr5:179245784-179245793 chr5:179248191-179248204 chr5:179246224-179246237 chr5:179246174-179246183 chr5:179248158-179248167
12	TEAD4	chr5:179247508-179249192	K562	blood:	n/a	n/a
13	NR3C1	chr5:179247646-179248134	A549	lung:	n/a	n/a
14	MAX	chr5:179245628-179249027	A549	lung:	n/a	chr5:179246557-179246568 chr5:179246558-179246568 chr5:179246557-179246568 chr5:179246557-179246567 chr5:179246556-179246569 chr5:179246328-179246338 chr5:179246557-179246567 chr5:179246558-179246568 chr5:179246556-179246569 chr5:179246556-179246569 chr5:179246211-179246220 chr5:179246557-179246568 chr5:179247807-179247817 chr5:179246553-179246572 chr5:179246558-179246567 chr5:179247553-179247562
15	POLR2A	chr5:179247583-179250067	K562	blood:	n/a	n/a
16	POLR2A	chr5:179247577-179249014	H1-neurons	neurons:	n/a	n/a
17	TAF1	chr5:179247646-179248205	K562	blood:	n/a	n/a
18	POLR2A	chr5:179247646-179248321	A549	lung:	n/a	n/a
19	HEY1	chr5:179247495-179249825	K562	blood:	n/a	chr5:179247882-179247897 chr5:179248424-179248439
20	MBD4	chr5:179247557-179248144	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:179247587-179248188	GM12891	blood:	n/a	n/a
22	PAX5	chr5:179247661-179248057	GM12878	blood:	n/a	n/a
23	ELF1	chr5:179247644-179248127	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:179245372-179249674	GM19099	blood:	n/a	n/a
25	HCFC1	chr5:179245195-179249527	Hela-S3	cervix:	n/a	n/a
26	MAX	chr5:179247634-179249069	NB4	blood:	n/a	chr5:179247807-179247817
27	TCF12	chr5:179245210-179250266	A549	lung:	n/a	chr5:179248789-179248799 chr5:179246679-179246689 chr5:179249700-179249710 chr5:179249664-179249671 chr5:179249663-179249673
28	TCF12	chr5:179247611-179248908	GM12878	blood:	n/a	chr5:179248789-179248799
29	BRCA1	chr5:179247625-179247957	GM12878	blood:	n/a	n/a
30	PBX3	chr5:179247599-179248165	SK-N-SH	brain:	n/a	n/a
31	SIN3AK20	chr5:179247659-179248068	HepG2	liver:	n/a	n/a
32	GTF2F1	chr5:179247723-179248149	H1-hESC	embryonic stem cell:	n/a	n/a
33	FOSL2	chr5:179247678-179247937	A549	lung:	n/a	chr5:179247851-179247860
34	CCNT2	chr5:179247317-179249027	K562	blood:	n/a	chr5:179248819-179248828 chr5:179247812-179247821
35	POLR2A	chr5:179247641-179250169	GM12891	blood:	n/a	n/a
36	CEBPD	chr5:179247644-179248224	K562	blood:	n/a	n/a
37	POLR2A	chr5:179247492-179248994	HEK293	kidney:	n/a	n/a
38	POLR2A	chr5:179245482-179249019	HL-60	blood:	n/a	n/a
39	CTBP2	chr5:179245827-179248892	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr5:179246981-179253160	K562	blood:	n/a	chr5:179247882-179247897 chr5:179248424-179248439
41	NR3C1	chr5:179247466-179248472	A549	lung:	n/a	chr5:179247513-179247526
42	BHLHE40	chr5:179247427-179248280	K562	blood:	n/a	chr5:179248154-179248170
43	TBL1XR1	chr5:179247538-179249291	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:179244943-179253663	PANC-1	pancreas:	n/a	n/a
45	CHD1	chr5:179247488-179249240	GM12878	blood:	n/a	chr5:179248854-179248864 chr5:179247583-179247593 chr5:179247813-179247823
46	TAF1	chr5:179247617-179248369	HepG2	liver:	n/a	n/a
47	TAF1	chr5:179247650-179248157	H1-neurons	neurons:	n/a	n/a
48	TFAP2C	chr5:179245652-179248819	Hela-S3	cervix:	n/a	n/a
49	PML	chr5:179247520-179248264	K562	blood:	n/a	n/a
50	ELF1	chr5:179246432-179248262	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:39715244..39717171-chr5:179246007..179248783,2	MCF-7	breast:
2	chr5:179124982..179127073-chr5:179245665..179248620,3	MCF-7	breast:
3	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
4	chr5:179245762..179250347-chr5:179281858..179288397,17	MCF-7	breast:
5	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
6	chr1:145382282..145382834-chr5:179247501..179248079,2	Hela-S3	cervix:
7	chr5:179122850..179128148-chr5:179246584..179249342,5	K562	blood:
8	chr5:179246365..179250489-chr5:179281961..179288216,8	MCF-7	breast:
9	chr5:179159613..179162067-chr5:179246269..179249324,3	MCF-7	breast:
10	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
11	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
12	chr5:179246544..179252042-chr5:179284250..179287282,6	K562	blood:
13	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
14	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
15	chr12:100536237..100536881-chr5:179247683..179248272,2	Hela-S3	cervix:
16	chr3:113415039..113416819-chr5:179245947..179248252,2	MCF-7	breast:
17	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
18	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
19	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
20	chr5:179244299..179249031-chr5:179283718..179288072,6	K562	blood:
21	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
22	chr5:179047831..179051506-chr5:179245810..179250436,9	MCF-7	breast:
23	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
24	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
25	chr1:17231108..17232007-chr5:179247508..179248050,2	Hela-S3	cervix:
26	chr5:179047327..179049016-chr5:179246235..179248894,2	MCF-7	breast:
27	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:
28	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
29	chr14:102276171..102276678-chr5:179247464..179248304,2	Hela-S3	cervix:
30	chr2:196521594..196522509-chr5:179247468..179248353,2	Hela-S3	cervix:

Variant related genes	Relation type
SQSTM1	TF binding region
ENSG00000259088	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000078304	Chromatin interaction
ENSG00000111647	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000196950	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000176542	Chromatin interaction
ENSG00000257696	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10063824	1.00[AMR][1000 genomes]
rs13171831	1.00[AMR][1000 genomes]
rs1552436	1.00[AMR][1000 genomes]
rs2450483	1.00[AMR][1000 genomes]
rs272431	1.00[AMR][1000 genomes]
rs272440	0.83[AMR][1000 genomes]
rs28611085	1.00[AMR][1000 genomes]
rs4391132	1.00[AMR][1000 genomes]
rs4643906	1.00[AMR][1000 genomes]
rs4700837	0.83[AMR][1000 genomes]
rs545136	1.00[AMR][1000 genomes]
rs562457	1.00[AMR][1000 genomes]
rs6601068	1.00[AMR][1000 genomes]
rs6601074	1.00[AMR][1000 genomes]
rs6872508	0.83[AMR][1000 genomes]
rs6872715	1.00[AMR][1000 genomes]
rs9329087	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
13	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179244400-179247800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179245000-179247800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179245000-179247800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:179245000-179247800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:179245200-179247800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:179245200-179247800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr5:179245200-179247800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:179245400-179247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:179245400-179247800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:179245400-179247800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr5:179245400-179247800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:179245400-179247800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr5:179245400-179247800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179245400-179248600	Enhancers	Fetal Brain Male	brain
15	chr5:179245600-179247800	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr5:179245600-179247800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:179245600-179247800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:179245600-179247800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:179245800-179247800	Flanking Active TSS	HSMM	muscle
20	chr5:179246400-179247800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:179246400-179247800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr5:179246400-179247800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr5:179246400-179247800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:179246400-179247800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179246400-179247800	Flanking Active TSS	Colonic Mucosa	Colon
26	chr5:179246400-179247800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:179246400-179247800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr5:179246400-179247800	Flanking Active TSS	A549	lung
29	chr5:179246400-179247800	Flanking Active TSS	GM12878-XiMat	blood
30	chr5:179246400-179247800	Flanking Active TSS	Hela-S3	cervix
31	chr5:179246400-179247800	Flanking Active TSS	K562	blood
32	chr5:179246600-179248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:179246800-179247800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:179247000-179247800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:179247000-179247800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:179247000-179247800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:179247000-179247800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:179247000-179247800	Flanking Active TSS	Stomach Mucosa	stomach
39	chr5:179247000-179247800	Flanking Active TSS	Osteobl	bone
40	chr5:179247200-179247800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr5:179247200-179247800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:179247200-179247800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr5:179247200-179247800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr5:179247200-179247800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr5:179247200-179247800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr5:179247200-179247800	Flanking Active TSS	Fetal Lung	lung
47	chr5:179247200-179247800	Flanking Active TSS	Placenta	Placenta
48	chr5:179247200-179247800	Flanking Active TSS	Thymus	Thymus
49	chr5:179247200-179247800	Flanking Active TSS	Dnd41	blood
50	chr5:179247200-179247800	Flanking Active TSS	NHLF	lung

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