Variant report

Variant	rs60291142
Chromosome Location	chr5:179245093-179245094
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	chr5:179245036-179249094	K562	blood:	n/a	n/a
2	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
3	POLR2A	chr5:179245027-179246305	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:179244943-179253663	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:179245023-179246332	GM12878	blood:	n/a	n/a
6	ZNF384	chr5:179244911-179245283	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:179245074-179245223	GM12878	blood:	n/a	n/a
8	MAX	chr5:179244985-179250170	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
9	POLR2A	chr5:179244976-179255423	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:179244951-179255413	Hela-S3	cervix:	n/a	n/a
11	ZNF384	chr5:179244868-179245464	K562	blood:	n/a	n/a
12	JUND	chr5:179245040-179245459	K562	blood:	n/a	n/a
13	POLR2A	chr5:179245049-179250170	Hela-S3	cervix:	n/a	n/a
14	MTA3	chr5:179245038-179248994	GM12878	blood:	n/a	n/a
15	NR2F2	chr5:179244955-179246798	K562	blood:	n/a	chr5:179246033-179246048
16	JUND	chr5:179245075-179247097	SK-N-SH	brain:	n/a	chr5:179246586-179246594 chr5:179246324-179246333 chr5:179246327-179246336 chr5:179246107-179246117 chr5:179246108-179246116 chr5:179246951-179246958 chr5:179246584-179246596 chr5:179246107-179246117 chr5:179246326-179246335 chr5:179246106-179246118 chr5:179246585-179246595 chr5:179246106-179246117 chr5:179246323-179246332
17	MAX	chr5:179245081-179249166	HCT-116	colon:	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
18	POLR2A	chr5:179244973-179255343	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179123896..179127851-chr5:179243560..179246560,5	K562	blood:
2	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
3	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
4	chr5:179125392..179128992-chr5:179244423..179246560,4	K562	blood:
5	chr5:179161523..179163573-chr5:179243732..179245347,2	MCF-7	breast:
6	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
7	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
8	chr5:179244299..179249031-chr5:179283718..179288072,6	K562	blood:
9	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
10	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:

Variant related genes	Relation type
SQSTM1	TF binding region
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000161021	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35647750	0.89[EUR][1000 genomes]
rs35667813	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36086003	0.81[AMR][1000 genomes]
rs58926938	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59939051	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
13	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
14	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
2	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
3	chr5:179240400-179245200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:179240600-179245200	Weak transcription	HSMM	muscle
5	chr5:179242000-179245400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:179242200-179245400	Weak transcription	Fetal Lung	lung
7	chr5:179243000-179246800	Weak transcription	Dnd41	blood
8	chr5:179243200-179245200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:179243200-179245400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr5:179243400-179245600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:179243400-179247200	Enhancers	Spleen	Spleen
12	chr5:179243600-179245200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:179243600-179245600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr5:179243600-179245600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:179243600-179246000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:179243600-179246800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr5:179243800-179245600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:179244000-179245400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179244200-179245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:179244200-179245400	Enhancers	NHEK	skin
21	chr5:179244200-179245600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:179244200-179245800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:179244400-179245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:179244400-179245200	Weak transcription	Aorta	Aorta
25	chr5:179244400-179245200	Enhancers	A549	lung
26	chr5:179244400-179245200	Enhancers	K562	blood
27	chr5:179244400-179245400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179244400-179245400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:179244400-179245400	Enhancers	Primary B cells from cord blood	blood
30	chr5:179244400-179245400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:179244400-179245400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:179244400-179245400	Enhancers	Liver	Liver
33	chr5:179244400-179245400	Weak transcription	Small Intestine	intestine
34	chr5:179244400-179245400	Enhancers	GM12878-XiMat	blood
35	chr5:179244400-179245600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:179244400-179245600	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:179244400-179245600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr5:179244400-179245600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:179244400-179245600	Enhancers	Fetal Heart	heart
40	chr5:179244400-179245600	Enhancers	Fetal Intestine Large	intestine
41	chr5:179244400-179245600	Enhancers	Placenta	Placenta
42	chr5:179244400-179245600	Enhancers	Left Ventricle	heart
43	chr5:179244400-179245600	Enhancers	Lung	lung
44	chr5:179244400-179245600	Enhancers	NHDF-Ad	bronchial
45	chr5:179244400-179245600	Enhancers	NHLF	lung
46	chr5:179244400-179245800	Active TSS	Primary T cells from cord blood	blood
47	chr5:179244400-179245800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:179244400-179245800	Enhancers	NH-A	brain
49	chr5:179244400-179246400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:179244400-179246600	Enhancers	Primary hematopoietic stem cells	blood

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