Variant report

Variant	rs528417946
Chromosome Location	chr19:55894700-55894701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:55893884-55895026	A549	lung:	n/a	n/a
2	SIX5	chr19:55893790-55894933	A549	lung:	n/a	n/a
3	POLR2A	chr19:55894561-55904659	K562	blood:	n/a	n/a
4	POLR2A	chr19:55894680-55903724	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:55894435-55894755	HepG2	liver:	n/a	n/a
6	CBX3	chr19:55893861-55894812	K562	blood:	n/a	n/a
7	MAX	chr19:55894427-55898041	K562	blood:	n/a	n/a
8	TBL1XR1	chr19:55894667-55894811	K562	blood:	n/a	n/a
9	BCL3	chr19:55894055-55895108	A549	lung:	n/a	n/a
10	HA-E2F1	chr19:55894637-55896132	MCF-7	breast:	n/a	chr19:55895720-55895731 chr19:55895748-55895763 chr19:55895747-55895758
11	MAX	chr19:55894668-55895603	K562	blood:	n/a	n/a
12	SMC3	chr19:55894641-55896047	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:55894687-55895915	GM12892	blood:	n/a	n/a
14	SMARCB1	chr19:55894602-55898488	Hela-S3	cervix:	n/a	n/a
15	YY1	chr19:55894672-55895119	GM12892	blood:	n/a	n/a
16	MAX	chr19:55894240-55898569	A549	lung:	n/a	n/a
17	MAX	chr19:55894656-55898378	A549	lung:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
2	chr19:55811782..55819446-chr19:55894353..55900958,7	K562	blood:
3	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
4	chr19:55894386..55898784-chr19:55971378..55974677,5	MCF-7	breast:
5	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
6	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
7	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
8	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
9	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
10	chr19:55660000..55662027-chr19:55893629..55896601,2	MCF-7	breast:
11	chr19:55854922..55862011-chr19:55892906..55898744,13	MCF-7	breast:
12	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
13	chr19:55893657..55895479-chr19:55950087..55951998,2	MCF-7	breast:
14	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
15	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
16	chr19:55675848..55678136-chr19:55894504..55899983,4	K562	blood:
17	chr19:55894527..55896497-chr19:56163809..56165981,2	K562	blood:
18	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
19	chr19:55894292..55897074-chr19:56152142..56154833,2	MCF-7	breast:
20	chr19:55723904..55730206-chr19:55894141..55899052,9	MCF-7	breast:
21	chr19:55863669..55866367-chr19:55893657..55895581,3	MCF-7	breast:
22	chr19:55808885..55818962-chr19:55893792..55900928,16	MCF-7	breast:
23	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:

No data

Variant related genes	Relation type
RPL28	TF binding region
ENSG00000267531	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000171425	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	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
14	nsv912470	chr19:55872591-55897170	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	79 gene(s)	inside rSNPs	diseases
15	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
16	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
17	nsv912476	chr19:55876747-55897327	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	91 gene(s)	inside rSNPs	diseases
18	esv3354937	chr19:55894165-55896713	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
19	esv3329074	chr19:55894565-55896613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55881400-55894800	Weak transcription	Right Atrium	heart
2	chr19:55889600-55894800	Weak transcription	Ovary	ovary
3	chr19:55889600-55894800	Weak transcription	Right Ventricle	heart
4	chr19:55889600-55894800	Weak transcription	NH-A	brain
5	chr19:55891000-55894800	Weak transcription	HSMMtube	muscle
6	chr19:55891400-55894800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:55892000-55894800	Weak transcription	HSMM	muscle
8	chr19:55893000-55894800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr19:55893400-55894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:55893400-55894800	Enhancers	Gastric	stomach
11	chr19:55893600-55894800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:55893600-55894800	Enhancers	Stomach Smooth Muscle	stomach
13	chr19:55893600-55894800	Flanking Active TSS	Hela-S3	cervix
14	chr19:55893600-55895000	Flanking Active TSS	Dnd41	blood
15	chr19:55893600-55895200	Enhancers	Fetal Brain Male	brain
16	chr19:55893600-55895200	Enhancers	Spleen	Spleen
17	chr19:55894000-55894800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:55894000-55894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:55894000-55894800	Enhancers	Placenta	Placenta
20	chr19:55894200-55894800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:55894200-55894800	Enhancers	Primary B cells from cord blood	blood
22	chr19:55894200-55894800	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:55894200-55894800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:55894200-55894800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:55894200-55894800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:55894200-55895000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr19:55894200-55895000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr19:55894200-55895000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:55894200-55895000	Flanking Active TSS	Colonic Mucosa	Colon
30	chr19:55894200-55895000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr19:55894200-55895000	Flanking Active TSS	GM12878-XiMat	blood
32	chr19:55894200-55895000	Flanking Active TSS	K562	blood
33	chr19:55894200-55895200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:55894200-55895600	Active TSS	Fetal Kidney	kidney
35	chr19:55894400-55894800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:55894400-55894800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr19:55894400-55894800	Enhancers	Fetal Muscle Leg	muscle
38	chr19:55894400-55894800	Enhancers	Lung	lung
39	chr19:55894400-55894800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr19:55894400-55894800	Flanking Active TSS	Stomach Mucosa	stomach
41	chr19:55894400-55895000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:55894400-55895000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr19:55894400-55895000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:55894400-55895000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:55894400-55895000	Flanking Active TSS	Fetal Thymus	thymus
46	chr19:55894400-55895000	Flanking Active TSS	Pancreas	Pancrea
47	chr19:55894400-55895000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:55894400-55897400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:55894600-55894800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr19:55894600-55894800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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