Variant report

Variant	rs13114299
Chromosome Location	chr4:665074-665075
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:664645-665137	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:664468-665158	PBDE	blood:	n/a	n/a
3	POLR2A	chr4:664738-665136	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:664793-665095	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:662898-665821	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:664470-666409	K562	blood:	n/a	n/a
7	POLR2A	chr4:664754-665152	GM12891	blood:	n/a	n/a
8	MTA3	chr4:664238-665184	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:664333-665787	K562	blood:	n/a	n/a
10	POLR2A	chr4:664213-666126	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr4:664208-665156	K562	blood:	n/a	n/a
12	POLR2A	chr4:664132-665273	GM12892	blood:	n/a	n/a
13	POLR2A	chr4:664382-666059	Raji	blood:	n/a	n/a
14	POLR2A	chr4:664304-665170	GM12891	blood:	n/a	n/a
15	POLR2A	chr4:664261-665077	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr4:664522-665185	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:664228-665095	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr4:664198-665156	K562	blood:	n/a	n/a
19	POLR2A	chr4:664275-665102	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:664286-666056	GM12891	blood:	n/a	n/a
21	POLR2A	chr4:664212-666225	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:664631-665150	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr4:664238-665161	GM12891	blood:	n/a	n/a
24	POLR2A	chr4:664245-665105	HL-60	blood:	n/a	n/a
25	POLR2A	chr4:663436-665182	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:664329-665079	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:664315-666558	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:664147-665186	GM12892	blood:	n/a	n/a
29	POLR2A	chr4:664431-665112	MCF-7	breast:	n/a	n/a
30	POLR2A	chr4:663370-666542	K562	blood:	n/a	n/a
31	POLR2A	chr4:664342-665772	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:663113-666359	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr4:664328-665089	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr4:664852-665139	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:664273-665080	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:664587-665149	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:663968-665297	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr4:663210-666145	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:663487-666318	K562	blood:	n/a	n/a
40	POLR2A	chr4:665047-665437	GM12878	blood:	n/a	n/a
41	PML	chr4:664460-665178	K562	blood:	n/a	n/a
42	POLR2A	chr4:664668-665160	GM12892	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:663475..665943-chr8:145718684..145721269,2	MCF-7	breast:
2	chr4:662349..665374-chr4:675709..679343,3	MCF-7	breast:
3	chr4:642255..644273-chr4:662905..665187,2	K562	blood:
4	chr4:606087..607621-chr4:663295..666195,2	MCF-7	breast:
5	chr4:663922..666504-chr4:705768..707927,2	MCF-7	breast:
6	chr4:664408..666949-chr4:770697..772344,2	MCF-7	breast:
7	chr4:640175..641727-chr4:663332..665885,2	K562	blood:
8	chr4:507198..510006-chr4:664346..666104,2	K562	blood:

No data

Variant related genes	Relation type
MYL5	TF binding region
ENSG00000174227	Chromatin interaction
ENSG00000169026	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10015198	0.87[EUR][1000 genomes]
rs13101691	0.87[EUR][1000 genomes]
rs13103955	0.87[EUR][1000 genomes]
rs13104878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13107526	0.87[EUR][1000 genomes]
rs13110755	1.00[EUR][1000 genomes]
rs13111179	0.87[EUR][1000 genomes]
rs13116523	0.87[EUR][1000 genomes]
rs13117283	0.87[EUR][1000 genomes]
rs13118033	0.80[EUR][1000 genomes]
rs13127213	0.84[EUR][1000 genomes]
rs13133935	0.87[EUR][1000 genomes]
rs13136626	0.87[EUR][1000 genomes]
rs13139052	0.84[EUR][1000 genomes]
rs13139089	0.87[EUR][1000 genomes]
rs13143415	0.95[EUR][1000 genomes]
rs13147797	0.87[EUR][1000 genomes]
rs13150119	0.87[EUR][1000 genomes]
rs28654405	0.87[EUR][1000 genomes]
rs28687729	0.87[EUR][1000 genomes]
rs28754934	0.87[EUR][1000 genomes]
rs34053163	0.87[EUR][1000 genomes]
rs34075612	0.87[EUR][1000 genomes]
rs34094325	0.87[EUR][1000 genomes]
rs34096984	0.87[EUR][1000 genomes]
rs34165278	0.87[EUR][1000 genomes]
rs34293668	0.87[EUR][1000 genomes]
rs34363025	0.87[EUR][1000 genomes]
rs34366493	0.87[EUR][1000 genomes]
rs34391278	0.87[EUR][1000 genomes]
rs34402770	0.87[EUR][1000 genomes]
rs34421911	0.87[EUR][1000 genomes]
rs34477049	0.87[EUR][1000 genomes]
rs34568772	0.87[EUR][1000 genomes]
rs34585712	0.87[EUR][1000 genomes]
rs34587191	0.84[EUR][1000 genomes]
rs34698095	0.87[EUR][1000 genomes]
rs34953355	0.87[EUR][1000 genomes]
rs34992186	0.87[EUR][1000 genomes]
rs35006826	0.87[EUR][1000 genomes]
rs35137658	0.87[EUR][1000 genomes]
rs35158410	0.87[EUR][1000 genomes]
rs35207129	0.87[EUR][1000 genomes]
rs35219160	0.87[EUR][1000 genomes]
rs35270524	0.87[EUR][1000 genomes]
rs35455427	0.87[EUR][1000 genomes]
rs35535457	0.87[EUR][1000 genomes]
rs35564967	0.87[EUR][1000 genomes]
rs35621318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621580	0.87[EUR][1000 genomes]
rs35649145	0.87[EUR][1000 genomes]
rs35694609	0.87[EUR][1000 genomes]
rs35732782	0.87[EUR][1000 genomes]
rs35843044	0.87[EUR][1000 genomes]
rs35853545	0.87[EUR][1000 genomes]
rs35869797	0.87[EUR][1000 genomes]
rs35894204	0.87[EUR][1000 genomes]
rs35896648	0.87[EUR][1000 genomes]
rs35925646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35935310	0.87[EUR][1000 genomes]
rs35972513	0.87[EUR][1000 genomes]
rs36060793	0.87[EUR][1000 genomes]
rs36117387	0.87[EUR][1000 genomes]
rs61760239	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602477	0.87[EUR][1000 genomes]
rs71602479	0.87[EUR][1000 genomes]
rs71602480	0.87[EUR][1000 genomes]
rs71602481	0.87[EUR][1000 genomes]
rs71602482	0.87[EUR][1000 genomes]
rs71602484	0.87[EUR][1000 genomes]
rs71602486	0.87[EUR][1000 genomes]
rs71602489	0.87[EUR][1000 genomes]
rs71602492	0.87[EUR][1000 genomes]
rs71602500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602501	0.81[EUR][1000 genomes]
rs7672426	0.87[EUR][1000 genomes]
rs7685281	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:658000-667000	Weak transcription	Small Intestine	intestine
2	chr4:658000-667400	Weak transcription	Aorta	Aorta
3	chr4:658200-666800	Weak transcription	Right Atrium	heart
4	chr4:658200-667000	Weak transcription	Stomach Mucosa	stomach
5	chr4:658200-667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:658400-665200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:658400-665200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:658400-665200	Weak transcription	Right Ventricle	heart
9	chr4:658400-665400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:658400-665400	Weak transcription	Fetal Kidney	kidney
11	chr4:658400-667000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:658600-667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:658600-667000	Weak transcription	Fetal Brain Male	brain
14	chr4:658800-665400	Weak transcription	GM12878-XiMat	blood
15	chr4:659000-665200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:659000-665400	Weak transcription	Primary B cells from cord blood	blood
17	chr4:659000-667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:659200-665600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:659400-665200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:659400-665400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:659400-665600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:660000-665400	Weak transcription	Osteobl	bone
23	chr4:661200-666600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:662000-665600	Weak transcription	Colonic Mucosa	Colon
25	chr4:662000-666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:663400-665400	Weak transcription	HepG2	liver
27	chr4:663600-666000	Strong transcription	Dnd41	blood
28	chr4:663600-666400	Strong transcription	Brain Anterior Caudate	brain
29	chr4:663600-666600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:663600-667000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:663600-667000	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:663600-667000	Strong transcription	Fetal Stomach	stomach
33	chr4:663600-667000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:663800-665400	Weak transcription	HSMMtube	muscle
35	chr4:663800-666600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:663800-666600	Strong transcription	Fetal Intestine Small	intestine
37	chr4:663800-666800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:663800-666800	Strong transcription	Brain Germinal Matrix	brain
39	chr4:663800-666800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr4:663800-666800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr4:663800-667000	Strong transcription	Primary T cells from cord blood	blood
42	chr4:663800-667000	Strong transcription	Brain Substantia Nigra	brain
43	chr4:664000-665200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:664200-665400	Weak transcription	Psoas Muscle	Psoas
45	chr4:664200-666200	Strong transcription	Brain Angular Gyrus	brain
46	chr4:664200-666600	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:664200-666800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr4:664200-666800	Strong transcription	Thymus	Thymus
49	chr4:664200-667000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr4:664400-666000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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