Variant report

Variant	rs545709932
Chromosome Location	chr19:55895523-55895524
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55895189-55904986	PANC-1	pancreas:	n/a	n/a
2	HA-E2F1	chr19:55894877-55895980	Hela-S3	cervix:	n/a	chr19:55895720-55895731 chr19:55895748-55895763 chr19:55895747-55895758
3	POLR2A	chr19:55894752-55898253	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr19:55895199-55895539	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr19:55894809-55904996	Hela-S3	cervix:	n/a	n/a
6	CREB1	chr19:55895200-55895690	A549	lung:	n/a	n/a
7	CTCF	chr19:55895178-55895557	MCF-7	breast:	n/a	n/a
8	TCF7L2	chr19:55895454-55897550	Hela-S3	cervix:	n/a	n/a
9	TAF1	chr19:55895197-55895547	K562	blood:	n/a	n/a
10	POLR2A	chr19:55895130-55895879	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr19:55894847-55895636	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr19:55895275-55895731	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr19:55895273-55895593	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:55895500-55895650	HMEC	breast:	n/a	n/a
15	ELF1	chr19:55895215-55898290	GM12878	blood:	n/a	n/a
16	MAX	chr19:55894820-55895772	GM12878	blood:	n/a	n/a
17	CTCF	chr19:55894888-55895554	IMR90	lung:	n/a	n/a
18	TAF1	chr19:55895150-55896031	ECC-1	luminal epithelium:	n/a	n/a
19	SIN3AK20	chr19:55895132-55895697	K562	blood:	n/a	n/a
20	MXI1	chr19:55895228-55897931	GM12878	blood:	n/a	chr19:55896434-55896449
21	CTCF	chr19:55894754-55895772	SK-N-SH	brain:	n/a	n/a
22	YY1	chr19:55895248-55895753	H1-hESC	embryonic stem cell:	n/a	chr19:55895635-55895646
23	MAX	chr19:55894963-55895545	SK-N-SH	brain:	n/a	n/a
24	CHD1	chr19:55895365-55898225	GM12878	blood:	n/a	chr19:55897281-55897291
25	YY1	chr19:55895459-55895772	GM12891	blood:	n/a	chr19:55895635-55895646
26	YY1	chr19:55895227-55895944	GM12878	blood:	n/a	chr19:55895635-55895646
27	RAD21	chr19:55895475-55895714	K562	blood:	n/a	n/a
28	CTCF	chr19:55895131-55895640	K562	blood:	n/a	n/a
29	GABPA	chr19:55895193-55895826	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr19:55894933-55899226	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr19:55894841-55904473	GM12878	blood:	n/a	n/a
32	TAF1	chr19:55895221-55895754	GM12878	blood:	n/a	n/a
33	PAX5	chr19:55895108-55895920	GM12892	blood:	n/a	n/a
34	YY1	chr19:55895199-55895843	ECC-1	luminal epithelium:	n/a	chr19:55895635-55895646
35	POLR2A	chr19:55894888-55898899	HCT-116	colon:	n/a	n/a
36	CTCF	chr19:55895181-55895600	GM12892	blood:	n/a	n/a
37	MAX	chr19:55894763-55896062	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr19:55895276-55895686	A549	lung:	n/a	n/a
39	POLR2A	chr19:55895223-55895548	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr19:55894940-55896126	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr19:55895220-55903350	K562	blood:	n/a	n/a
42	POLR2A	chr19:55894864-55896287	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:55895116-55897840	HCT-116	colon:	n/a	n/a
44	POLR2A	chr19:55894856-55898584	GM19099	blood:	n/a	n/a
45	POLR2A	chr19:55895215-55895701	GM12892	blood:	n/a	n/a
46	POLR2A	chr19:55895170-55898215	Hela-S3	cervix:	n/a	n/a
47	E2F6	chr19:55894919-55895651	A549	lung:	n/a	n/a
48	RAD21	chr19:55894969-55895558	IMR90	lung:	n/a	n/a
49	CTCF	chr19:55895176-55895617	GM19239	blood:	n/a	n/a
50	POLR2A	chr19:55894941-55898566	GM19193	blood:	n/a	n/a

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:35450068..35451011-chr19:55895179..55896026,2	Hela-S3	cervix:
2	chr19:55895263..55895954-chr19:55918705..55919446,2	Hela-S3	cervix:
3	chr19:55895254..55897852-chr19:55973441..55975937,2	K562	blood:
4	chr19:55676207..55678218-chr19:55894877..55897476,2	MCF-7	breast:
5	chr19:55894730..55901388-chr19:55970612..55975937,9	K562	blood:
6	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
7	chr19:55811782..55819446-chr19:55894353..55900958,7	K562	blood:
8	chr19:55811558..55817329-chr19:55895333..55899907,9	MCF-7	breast:
9	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
10	chr19:55895131..55895969-chr9:100684595..100685317,2	Hela-S3	cervix:
11	chr19:55677411..55679148-chr19:55895317..55896952,2	MCF-7	breast:
12	chr19:55894386..55898784-chr19:55971378..55974677,5	MCF-7	breast:
13	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:
14	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
15	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
16	chr19:55627804..55630494-chr19:55895380..55898353,2	K562	blood:
17	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
18	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
19	chr19:55869722..55871844-chr19:55895437..55897216,2	MCF-7	breast:
20	chr13:48807098..48807823-chr19:55895120..55896032,2	Hela-S3	cervix:
21	chr19:55895074..55897174-chr19:56145786..56148520,2	MCF-7	breast:
22	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
23	chr19:55688311..55691062-chr19:55894842..55896433,2	MCF-7	breast:
24	chr19:55660000..55662027-chr19:55893629..55896601,2	MCF-7	breast:
25	chr19:55673897..55675427-chr19:55894913..55897394,2	MCF-7	breast:
26	chr19:55654842..55658352-chr19:55895153..55898113,3	MCF-7	breast:
27	chr19:55854922..55862011-chr19:55892906..55898744,13	MCF-7	breast:
28	chr19:55864065..55867080-chr19:55895058..55897568,4	K562	blood:
29	chr19:55790067..55793851-chr19:55895113..55900809,14	K562	blood:
30	chr19:55687032..55688994-chr19:55895402..55898104,2	K562	blood:
31	chr19:55895123..55898992-chr19:55986838..55992189,7	MCF-7	breast:
32	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
33	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
34	chr19:55894932..55897598-chr19:56114798..56116891,2	MCF-7	breast:
35	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
36	chr19:55743829..55748910-chr19:55895144..55898736,4	K562	blood:
37	chr19:55675848..55678136-chr19:55894504..55899983,4	K562	blood:
38	chr15:35279771..35280552-chr19:55895515..55896297,2	Hela-S3	cervix:
39	chr19:55895254..55899821-chr19:55961359..55968155,8	K562	blood:
40	chr19:55847527..55853936-chr19:55895162..55898950,13	K562	blood:
41	chr19:55894527..55896497-chr19:56163809..56165981,2	K562	blood:
42	chr19:55895470..55898612-chr19:55996647..55999091,3	MCF-7	breast:
43	chr19:55670339..55672194-chr19:55895106..55898791,3	K562	blood:
44	chr19:55894962..55896497-chr19:56164481..56166264,2	K562	blood:
45	chr19:55790075..55793363-chr19:55895323..55900809,10	K562	blood:
46	chr19:55726436..55728514-chr19:55894954..55897683,2	MCF-7	breast:
47	chr19:55812913..55813769-chr19:55895003..55895642,2	MCF-7	breast:
48	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
49	chr19:55757527..55760012-chr19:55894968..55896931,2	MCF-7	breast:
50	chr19:45257233..45258081-chr19:55895226..55895881,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RPL28	TF binding region
ENSG00000160469	Chromatin interaction
ENSG00000243749	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000267110	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000241014	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000198146	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000267706	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000267649	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55894200-55895600	Active TSS	Fetal Kidney	kidney
2	chr19:55894400-55897400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:55894600-55895800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:55894600-55895800	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:55894600-55895800	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:55894600-55896000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:55894600-55896800	Enhancers	Fetal Heart	heart
8	chr19:55894600-55898200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:55894600-55898600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:55894800-55895800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:55894800-55895800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:55894800-55895800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:55894800-55895800	Active TSS	Primary T cells from cord blood	blood
14	chr19:55894800-55895800	Active TSS	Hela-S3	cervix
15	chr19:55894800-55895800	Active TSS	Osteobl	bone
16	chr19:55894800-55896000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:55894800-55896000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr19:55894800-55896000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr19:55894800-55896000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:55894800-55896200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:55894800-55897800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:55894800-55897800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:55894800-55899000	Active TSS	Small Intestine	intestine
24	chr19:55894800-55899200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr19:55894800-55899600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:55895000-55895600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:55895000-55895600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:55895000-55895600	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:55895000-55895600	Active TSS	Primary B cells from peripheral blood	blood
30	chr19:55895000-55895600	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr19:55895000-55895600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:55895000-55895600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:55895000-55895600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:55895000-55895600	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr19:55895000-55895600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:55895000-55895600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:55895000-55895600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:55895000-55895600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:55895000-55895600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:55895000-55895600	Active TSS	Adipose Nuclei	Adipose
41	chr19:55895000-55895600	Active TSS	Liver	Liver
42	chr19:55895000-55895600	Active TSS	Brain Germinal Matrix	brain
43	chr19:55895000-55895600	Active TSS	Colonic Mucosa	Colon
44	chr19:55895000-55895600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr19:55895000-55895600	Active TSS	Esophagus	oesophagus
46	chr19:55895000-55895600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:55895000-55895600	Active TSS	Left Ventricle	heart
48	chr19:55895000-55895600	Active TSS	Lung	lung
49	chr19:55895000-55895600	Active TSS	Ovary	ovary
50	chr19:55895000-55895600	Active TSS	Right Ventricle	heart

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