Variant report

Variant	rs73619651
Chromosome Location	chr19:55918045-55918046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:69)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55916783-55920340	K562	blood:	n/a	n/a
2	POLR2A	chr19:55917811-55918543	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:55916858-55918495	GM12878	blood:	n/a	n/a
4	USF2	chr19:55917591-55918065	K562	blood:	n/a	n/a
5	MAX	chr19:55917987-55918188	K562	blood:	n/a	n/a
6	CHD1	chr19:55917976-55919411	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:55917979-55918523	GM12878	blood:	n/a	n/a
8	HEY1	chr19:55916730-55920098	K562	blood:	n/a	chr19:55919237-55919246 chr19:55919062-55919077 chr19:55919235-55919244 chr19:55919465-55919480
9	POLR2A	chr19:55917337-55919876	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:55916859-55918161	U87	brain:	n/a	n/a
11	POLR2A	chr19:55916759-55920151	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:55917982-55918533	A549	lung:	n/a	n/a
13	JUND	chr19:55917687-55918482	A549	lung:	n/a	chr19:55918417-55918428
14	POLR2A	chr19:55917956-55918474	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:55916849-55919314	A549	lung:	n/a	n/a
16	POLR2A	chr19:55917764-55918090	HCT-116	colon:	n/a	n/a
17	RCOR1	chr19:55917509-55918656	K562	blood:	n/a	n/a
18	POLR2A	chr19:55917834-55918532	Hela-S3	cervix:	n/a	n/a
19	MTA3	chr19:55917915-55918424	GM12878	blood:	n/a	n/a
20	CEBPB	chr19:55917990-55918360	K562	blood:	n/a	chr19:55917996-55918009
21	POLR2A	chr19:55916942-55920371	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:55916857-55920117	U87	brain:	n/a	n/a
23	POLR2A	chr19:55916752-55920589	PFSK-1	brain:	n/a	n/a
24	MAX	chr19:55917976-55918155	GM12878	blood:	n/a	n/a
25	MAX	chr19:55917863-55918508	K562	blood:	n/a	n/a
26	MYC	chr19:55917932-55918351	MCF10A-Er-Src	breast:	n/a	n/a
27	TBL1XR1	chr19:55917978-55920372	K562	blood:	n/a	n/a
28	POLR2A	chr19:55916918-55920379	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:55917846-55918532	GM12891	blood:	n/a	n/a
30	MAX	chr19:55917400-55920562	A549	lung:	n/a	chr19:55917730-55917739 chr19:55919085-55919095 chr19:55919409-55919419 chr19:55917536-55917546
31	TEAD4	chr19:55917886-55918537	K562	blood:	n/a	n/a
32	POLR2A	chr19:55917724-55918162	HCT-116	colon:	n/a	n/a
33	POLR2A	chr19:55916818-55920368	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr19:55916868-55920104	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:55918036-55920074	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:55916974-55918482	K562	blood:	n/a	n/a
37	POLR2A	chr19:55917885-55919952	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:55917900-55918050	BE2_C	brain:	n/a	n/a
39	POLR2A	chr19:55917265-55920345	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr19:55917439-55918457	A549	lung:	n/a	n/a
41	CEBPB	chr19:55917944-55918371	IMR90	lung:	n/a	chr19:55917996-55918009
42	POLR2A	chr19:55917651-55920061	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr19:55917662-55920359	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr19:55917965-55920019	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr19:55917780-55918469	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:55916713-55920478	GM12892	blood:	n/a	n/a
47	POLR2A	chr19:55916750-55920472	K562	blood:	n/a	n/a
48	POLR2A	chr19:55917494-55918095	K562	blood:	n/a	n/a
49	POLR2A	chr19:55916851-55920224	U87	brain:	n/a	n/a
50	HEY1	chr19:55918010-55918536	K562	blood:	n/a	n/a

No data

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:55809572..55814180-chr19:55916301..55919700,7	K562	blood:
2	chr19:55917643..55920320-chr19:55972969..55975878,3	MCF-7	breast:
3	chr19:55917418..55919506-chr19:56180430..56182148,2	K562	blood:
4	chr19:55723660..55729639-chr19:55916052..55920716,13	K562	blood:
5	chr19:55917851..55918400-chr21:43429602..43430187,2	Hela-S3	cervix:
6	chr19:55917778..55920684-chr19:56153894..56155704,2	K562	blood:
7	chr19:55768444..55771983-chr19:55917721..55920953,5	K562	blood:
8	chr19:55688770..55691626-chr19:55917418..55920191,3	K562	blood:
9	chr19:55849530..55854944-chr19:55915448..55920939,7	K562	blood:
10	chr19:55768430..55771983-chr19:55917442..55920696,5	K562	blood:
11	chr19:55917609..55921205-chr19:55953986..55957164,3	MCF-7	breast:
12	chr19:55766270..55768327-chr19:55917857..55920596,3	K562	blood:
13	chr19:55917877..55920503-chr19:56111114..56113096,2	K562	blood:
14	chr19:55670813..55674787-chr19:55917654..55919984,3	MCF-7	breast:
15	chr19:55916632..55921194-chr19:56143912..56146949,5	K562	blood:
16	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
17	chr19:55627278..55631711-chr19:55917816..55921434,6	K562	blood:
18	chr19:55915902..55921022-chr19:55996597..56001074,7	K562	blood:
19	chr19:55850053..55852875-chr19:55917610..55920825,5	MCF-7	breast:
20	chr19:55917750..55919374-chr19:56134333..56135966,2	K562	blood:
21	chr19:55789007..55793013-chr19:55917737..55920988,5	K562	blood:
22	chr19:55917592..55920632-chr19:55969275..55975218,9	K562	blood:
23	chr19:55684986..55687245-chr19:55917365..55919407,3	K562	blood:
24	chr19:55917794..55920112-chr20:49346738..49349717,2	MCF-7	breast:
25	chr19:55894963..55895781-chr19:55917794..55918457,2	Hela-S3	cervix:
26	chr19:55811395..55814060-chr19:55915860..55921148,5	MCF-7	breast:
27	chr19:55590507..55594768-chr19:55917232..55920967,4	K562	blood:
28	chr19:55917650..55919623-chr19:56109574..56112521,4	MCF-7	breast:
29	chr19:55652852..55657491-chr19:55917252..55920205,4	K562	blood:
30	chr19:55768912..55770529-chr19:55917802..55919631,2	MCF-7	breast:
31	chr19:55865425..55868489-chr19:55917598..55920755,3	MCF-7	breast:
32	chr19:55916982..55920956-chr19:55971330..55975217,7	K562	blood:
33	chr19:55652852..55656100-chr19:55917252..55920205,3	K562	blood:
34	chr19:55814995..55818347-chr19:55916195..55920993,4	K562	blood:
35	chr12:120729443..120729951-chr19:55918009..55918824,2	Hela-S3	cervix:
36	chr19:55765021..55768327-chr19:55917514..55921278,5	K562	blood:
37	chr19:55812021..55814783-chr19:55917656..55920430,5	MCF-7	breast:
38	chr19:55720076..55722268-chr19:55917409..55919415,2	MCF-7	breast:
39	chr19:55834785..55837569-chr19:55917820..55920717,2	K562	blood:
40	chr19:55688939..55693251-chr19:55917287..55920595,8	K562	blood:
41	chr19:55917594..55920802-chr19:56150613..56153734,3	K562	blood:
42	chr19:55625474..55630122-chr19:55917760..55920694,6	K562	blood:
43	chr19:55795553..55797750-chr19:55917635..55920428,2	MCF-7	breast:
44	chr19:55791853..55793584-chr19:55917740..55919945,2	MCF-7	breast:
45	chr19:55916968..55919340-chr19:56087208..56090390,3	K562	blood:
46	chr19:55725879..55730013-chr19:55916052..55921296,12	K562	blood:
47	chr19:55767248..55770437-chr19:55917297..55920206,6	MCF-7	breast:
48	chr19:55916968..55919550-chr19:56086420..56090390,4	K562	blood:
49	chr19:55855397..55858680-chr19:55917740..55920273,3	K562	blood:
50	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:

No data

Variant related genes	Relation type
UBE2S	TF binding region
ENSG00000267577	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000267110	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000180043	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000267096	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000180061	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000267649	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10403564	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10403989	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10404049	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10404370	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10405802	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10407066	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10408088	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10408448	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10408525	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10408540	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10410269	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10411984	0.81[AFR][1000 genomes]
rs10415365	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10416908	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10420818	0.93[AFR][1000 genomes]
rs10421889	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10423589	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10424289	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10424652	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10425107	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10425362	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10425596	0.82[AFR][1000 genomes]
rs28408730	0.93[AFR][1000 genomes]
rs28536711	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28540780	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28797308	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59698058	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61468173	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73617871	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73617888	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73617896	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73619606	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73619611	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
2	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
4	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
5	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
6	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
7	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
8	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
9	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 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	chr19:55900200-55918400	Weak transcription	Psoas Muscle	Psoas
2	chr19:55913400-55918200	Transcr. at gene 5' and 3'	Hela-S3	cervix
3	chr19:55914600-55918200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:55915400-55918200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:55915400-55918200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:55915400-55918400	Genic enhancers	Spleen	Spleen
7	chr19:55916600-55918400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:55916800-55918200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:55916800-55918200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
10	chr19:55916800-55918200	Transcr. at gene 5' and 3'	NH-A	brain
11	chr19:55916800-55918200	Transcr. at gene 5' and 3'	NHLF	lung
12	chr19:55916800-55918400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
13	chr19:55916800-55918400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
14	chr19:55916800-55918400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:55916800-55918400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:55916800-55918400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:55916800-55918400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
18	chr19:55916800-55918400	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr19:55916800-55918600	Transcr. at gene 5' and 3'	A549	lung
20	chr19:55917000-55918200	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:55917000-55918200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
22	chr19:55917000-55918200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
23	chr19:55917000-55918200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:55917000-55918200	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:55917000-55918200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:55917000-55918200	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr19:55917000-55918200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:55917000-55918200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:55917000-55918200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
30	chr19:55917000-55918200	Transcr. at gene 5' and 3'	Thymus	Thymus
31	chr19:55917000-55918200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr19:55917000-55918200	Transcr. at gene 5' and 3'	HMEC	breast
33	chr19:55917000-55918200	Transcr. at gene 5' and 3'	Osteobl	bone
34	chr19:55917000-55918400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:55917000-55918400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:55917000-55918400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
37	chr19:55917000-55918400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:55917000-55918400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
39	chr19:55917000-55918400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
40	chr19:55917000-55918400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr19:55917000-55918400	Enhancers	Pancreas	Pancrea
42	chr19:55917000-55918400	Transcr. at gene 5' and 3'	HepG2	liver
43	chr19:55917000-55918400	Transcr. at gene 5' and 3'	HSMM	muscle
44	chr19:55917000-55918400	Transcr. at gene 5' and 3'	K562	blood
45	chr19:55917000-55918400	Transcr. at gene 5' and 3'	NHEK	skin
46	chr19:55917000-55918600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:55917200-55918200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
48	chr19:55917200-55918200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr19:55917200-55918200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
50	chr19:55917200-55918200	Enhancers	Left Ventricle	heart

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