Variant report

Variant	rs113971242
Chromosome Location	chr5:179160153-179160154
allele	C/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	SIN3AK20	chr5:179159033-179160964	MCF-7	breast:	n/a	n/a
2	SIN3A	chr5:179159390-179160582	GM12878	blood:	n/a	chr5:179159551-179159560
3	POLR2A	chr5:179159049-179160434	ProgFib	skin:	n/a	n/a
4	HMGN3	chr5:179159458-179160597	K562	blood:	n/a	n/a
5	UBTF	chr5:179159357-179160898	K562	blood:	n/a	n/a
6	TAF1	chr5:179159405-179160246	SK-N-SH	brain:	n/a	n/a
7	TAF1	chr5:179159239-179160191	A549	lung:	n/a	n/a
8	RELA	chr5:179159161-179160185	GM10847	blood:	n/a	n/a
9	TAF1	chr5:179159312-179160338	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr5:179159381-179160183	SK-N-SH	brain:	n/a	chr5:179159668-179159677
11	HCFC1	chr5:179159364-179160575	K562	blood:	n/a	n/a
12	POLR2A	chr5:179158879-179160178	GM12891	blood:	n/a	n/a
13	MYC	chr5:179159830-179160510	MCF-7	breast:	n/a	n/a
14	EBF1	chr5:179159870-179160244	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179160047-179160176	A549	lung:	n/a	n/a
16	POLR2A	chr5:179159445-179160360	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr5:179159073-179160165	HL-60	blood:	n/a	n/a
18	POLR2A	chr5:179158625-179160201	GM12892	blood:	n/a	n/a
19	MAX	chr5:179159082-179160843	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:179158657-179160317	GM12878	blood:	n/a	n/a
21	TAF1	chr5:179159353-179160326	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:179158956-179160730	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr5:179159347-179160301	GM12878	blood:	n/a	n/a
24	CCNT2	chr5:179158634-179160483	K562	blood:	n/a	n/a
25	TCF3	chr5:179159773-179160335	GM12878	blood:	n/a	n/a
26	JUND	chr5:179158915-179160209	A549	lung:	n/a	chr5:179159752-179159761 chr5:179159223-179159234
27	POLR2A	chr5:179159431-179160348	A549	lung:	n/a	n/a
28	GATA1	chr5:179159565-179160442	PBDE	blood:	n/a	n/a
29	POLR2A	chr5:179159370-179160378	GM12878	blood:	n/a	n/a
30	E2F4	chr5:179159475-179160639	K562	blood:	n/a	chr5:179160436-179160448 chr5:179159754-179159763
31	YY1	chr5:179159368-179160320	H1-hESC	embryonic stem cell:	n/a	chr5:179159850-179159861 chr5:179159845-179159853 chr5:179159832-179159854 chr5:179159842-179159854 chr5:179159852-179159861 chr5:179159844-179159854
32	GABPA	chr5:179159861-179160319	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr5:179159251-179160353	HepG2	liver:	n/a	n/a
34	HCFC1	chr5:179158328-179160993	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr5:179158446-179160396	HepG2	liver:	n/a	n/a
36	YY1	chr5:179159273-179160325	H1-hESC	embryonic stem cell:	n/a	chr5:179159850-179159861 chr5:179159845-179159853 chr5:179159832-179159854 chr5:179159842-179159854 chr5:179159852-179159861 chr5:179159844-179159854
37	YY1	chr5:179159663-179160249	GM12891	blood:	n/a	chr5:179159850-179159861 chr5:179159845-179159853 chr5:179159832-179159854 chr5:179159842-179159854 chr5:179159852-179159861 chr5:179159844-179159854
38	E2F1	chr5:179159495-179160548	Hela-S3	cervix:	n/a	chr5:179160436-179160448 chr5:179159686-179159697 chr5:179159754-179159763
39	UBTF	chr5:179159327-179160953	K562	blood:	n/a	n/a
40	CHD2	chr5:179159470-179160283	K562	blood:	n/a	n/a
41	MAX	chr5:179159028-179160921	A549	lung:	n/a	n/a
42	TBP	chr5:179159349-179160966	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:179159330-179160317	HUVEC	blood vessel:	n/a	n/a
44	HA-E2F1	chr5:179159480-179160585	Hela-S3	cervix:	n/a	chr5:179160436-179160448 chr5:179159686-179159697 chr5:179159754-179159763
45	YY1	chr5:179159353-179160256	SK-N-SH_RA	brain:	n/a	chr5:179159850-179159861 chr5:179159845-179159853 chr5:179159832-179159854 chr5:179159842-179159854 chr5:179159852-179159861 chr5:179159844-179159854
46	REST	chr5:179159293-179161135	H1-neurons	neurons:	n/a	chr5:179160568-179160578
47	TCF7L2	chr5:179159119-179160274	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:179158882-179160901	Hela-S3	cervix:	n/a	n/a
49	YY1	chr5:179159611-179160160	GM12892	blood:	n/a	chr5:179159850-179159861 chr5:179159845-179159853 chr5:179159832-179159854 chr5:179159842-179159854 chr5:179159852-179159861 chr5:179159844-179159854
50	CTCFL	chr5:179160080-179160285	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
2	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
3	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
4	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
5	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
6	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
7	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
8	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
9	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
10	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
11	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
12	chr5:179148995..179151218-chr5:179158028..179161139,3	MCF-7	breast:
13	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
14	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
15	chr5:179152255..179157364-chr5:179157617..179161141,8	K562	blood:
16	chr5:179102368..179107935-chr5:179157286..179161555,5	K562	blood:
17	chr5:179104047..179107935-chr5:179157751..179161258,3	K562	blood:
18	chr5:179159613..179162067-chr5:179246269..179249324,3	MCF-7	breast:
19	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
20	chr5:179130512..179134437-chr5:179159497..179161438,3	MCF-7	breast:
21	chr5:179143486..179153989-chr5:179156108..179164461,19	MCF-7	breast:
22	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
23	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
24	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
25	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
26	chr15:65588145..65588820-chr5:179159372..179160191,2	Hela-S3	cervix:

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	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
5	esv3413500	chr5:179159171-179161719	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 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	chr5:179158600-179161200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:179158800-179160800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:179158800-179160800	Active TSS	Thymus	Thymus
4	chr5:179158800-179161200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:179158800-179161400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:179158800-179161400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr5:179159000-179160800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:179159000-179161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:179159000-179161000	Active TSS	Brain Substantia Nigra	brain
10	chr5:179159000-179161000	Active TSS	Small Intestine	intestine
11	chr5:179159000-179161000	Active TSS	A549	lung
12	chr5:179159000-179161200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:179159000-179161200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:179159000-179161200	Active TSS	K562	blood
15	chr5:179159000-179161400	Active TSS	HepG2	liver
16	chr5:179159000-179161600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:179159000-179161600	Active TSS	Right Atrium	heart
18	chr5:179159000-179162000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:179159000-179162000	Active TSS	Colonic Mucosa	Colon
20	chr5:179159200-179160400	Active TSS	Adipose Nuclei	Adipose
21	chr5:179159200-179160400	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:179159200-179160600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:179159200-179160800	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:179159200-179160800	Active TSS	Brain Hippocampus Middle	brain
25	chr5:179159200-179160800	Active TSS	Placenta	Placenta
26	chr5:179159200-179160800	Active TSS	Rectal Smooth Muscle	rectum
27	chr5:179159200-179160800	Active TSS	Stomach Smooth Muscle	stomach
28	chr5:179159200-179160800	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:179159200-179161000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:179159200-179161000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:179159200-179161000	Active TSS	Aorta	Aorta
32	chr5:179159200-179161000	Active TSS	Duodenum Mucosa	Duodenum
33	chr5:179159200-179161000	Active TSS	Esophagus	oesophagus
34	chr5:179159200-179161000	Active TSS	Fetal Brain Female	brain
35	chr5:179159200-179161000	Active TSS	Fetal Intestine Large	intestine
36	chr5:179159200-179161000	Active TSS	Left Ventricle	heart
37	chr5:179159200-179161000	Active TSS	Lung	lung
38	chr5:179159200-179161200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:179159200-179161200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:179159200-179161200	Active TSS	Psoas Muscle	Psoas
41	chr5:179159200-179161200	Active TSS	HSMM	muscle
42	chr5:179159200-179161400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:179159200-179161400	Active TSS	Brain Germinal Matrix	brain
44	chr5:179159200-179161600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:179159200-179161600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:179159200-179161600	Active TSS	Ovary	ovary
47	chr5:179159200-179161600	Active TSS	Right Ventricle	heart
48	chr5:179159200-179161800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr5:179159200-179162000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:179159200-179162000	Active TSS	NHLF	lung

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