Variant report

Variant	rs1128712
Chromosome Location	chr19:55686705-55686706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr19:55686332-55686842	K562	blood:	n/a	n/a
2	GTF2F1	chr19:55685898-55686782	K562	blood:	n/a	n/a
3	UBTF	chr19:55686534-55686734	K562	blood:	n/a	n/a
4	CCNT2	chr19:55686348-55686777	K562	blood:	n/a	n/a
5	POLR2A	chr19:55685563-55686879	K562	blood:	n/a	n/a
6	NRF1	chr19:55686358-55686730	H1-hESC	embryonic stem cell:	n/a	chr19:55686527-55686538 chr19:55686526-55686537 chr19:55686524-55686538
7	TBP	chr19:55685103-55686800	K562	blood:	n/a	n/a
8	E2F6	chr19:55686365-55687024	K562	blood:	n/a	chr19:55686468-55686477
9	BHLHE40	chr19:55686510-55686765	K562	blood:	n/a	n/a
10	POLR2A	chr19:55686489-55686809	K562	blood:	n/a	n/a
11	ZMIZ1	chr19:55686569-55686808	K562	blood:	n/a	n/a
12	MAX	chr19:55686398-55686846	K562	blood:	n/a	n/a
13	YY1	chr19:55686450-55686906	K562	blood:	n/a	n/a
14	MAZ	chr19:55686319-55686793	K562	blood:	n/a	n/a
15	HEY1	chr19:55686406-55686863	K562	blood:	n/a	n/a
16	PML	chr19:55685067-55686889	K562	blood:	n/a	n/a
17	POLR2A	chr19:55684921-55686855	K562	blood:	n/a	n/a
18	CUX1	chr19:55686515-55686947	K562	blood:	n/a	n/a
19	MAX	chr19:55686413-55686882	K562	blood:	n/a	n/a
20	TBL1XR1	chr19:55686438-55687018	K562	blood:	n/a	n/a
21	HCFC1	chr19:55686441-55686817	K562	blood:	n/a	n/a
22	TAL1	chr19:55686653-55686826	K562	blood:	n/a	n/a
23	ZBTB7A	chr19:55686417-55686927	K562	blood:	n/a	n/a
24	TAF1	chr19:55686319-55686711	K562	blood:	n/a	n/a
25	UBTF	chr19:55686191-55686793	K562	blood:	n/a	n/a
26	MYC	chr19:55686429-55687022	K562	blood:	n/a	n/a
27	POLR2A	chr19:55684256-55687473	K562	blood:	n/a	n/a
28	POLR2A	chr19:55685838-55686769	H1-neurons	neurons:	n/a	n/a
29	JUN	chr19:55686338-55686808	K562	blood:	n/a	chr19:55686466-55686475
30	GTF2B	chr19:55686009-55686875	K562	blood:	n/a	n/a
31	POLR2A	chr19:55686555-55686754	K562	blood:	n/a	n/a
32	POLR2A	chr19:55684725-55687295	K562	blood:	n/a	n/a
33	CBX3	chr19:55686424-55687129	K562	blood:	n/a	n/a
34	ELF1	chr19:55686361-55686801	K562	blood:	n/a	n/a
35	POLR2A	chr19:55685062-55686816	K562	blood:	n/a	n/a
36	MAX	chr19:55686342-55686987	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUN	chr19:55684455-55688134	K562	blood:	n/a	chr19:55686466-55686475 chr19:55687873-55687887 chr19:55685270-55685279
38	RCOR1	chr19:55686218-55686792	K562	blood:	n/a	n/a
39	POLR2A	chr19:55685070-55686963	K562	blood:	n/a	n/a
40	E2F6	chr19:55685634-55686994	H1-hESC	embryonic stem cell:	n/a	chr19:55686468-55686477
41	E2F4	chr19:55686380-55686790	K562	blood:	n/a	chr19:55686468-55686477 chr19:55686540-55686551 chr19:55686561-55686572
42	TAF1	chr19:55686378-55686794	K562	blood:	n/a	n/a
43	E2F6	chr19:55686309-55687003	H1-hESC	embryonic stem cell:	n/a	chr19:55686468-55686477
44	TEAD4	chr19:55685105-55686910	K562	blood:	n/a	n/a
45	ELF1	chr19:55686258-55686926	K562	blood:	n/a	n/a
46	POLR2A	chr19:55685890-55686864	K562	blood:	n/a	n/a
47	POLR2A	chr19:55685402-55688569	H1-neurons	neurons:	n/a	n/a
48	E2F6	chr19:55685609-55687141	K562	blood:	n/a	chr19:55686468-55686477
49	CEBPB	chr19:55686471-55686801	K562	blood:	n/a	n/a
50	JUND	chr19:55686449-55686880	K562	blood:	n/a	chr19:55686466-55686475

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55683524..55688236-chr19:55723837..55729899,9	K562	blood:
2	chr19:55685207..55686933-chr19:55998048..56001042,3	K562	blood:
3	chr19:55686310..55687891-chr19:55719950..55721494,2	K562	blood:
4	chr19:55684986..55687245-chr19:55917365..55919407,3	K562	blood:
5	chr19:55685793..55687332-chr19:56110126..56112536,2	K562	blood:
6	chr19:55652583..55654587-chr19:55685564..55687103,2	K562	blood:
7	chr19:55677803..55679380-chr19:55684043..55686956,2	MCF-7	breast:
8	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
9	chr19:55651262..55654083-chr19:55684163..55687103,3	K562	blood:
10	chr19:55684707..55688022-chr19:55908129..55911789,4	K562	blood:
11	chr19:55590426..55594638-chr19:55684228..55687886,4	K562	blood:
12	chr19:55685149..55688070-chr19:55790255..55792658,4	K562	blood:
13	chr19:55624933..55628932-chr19:55685116..55688802,5	K562	blood:
14	chr19:55682875..55687636-chr19:55687850..55692874,6	MCF-7	breast:
15	chr19:55592011..55594638-chr19:55684282..55687431,3	K562	blood:
16	chr19:55685793..55687548-chr19:56110126..56112399,2	K562	blood:
17	chr19:55684986..55687548-chr19:55917710..55920086,4	K562	blood:
18	chr19:55627139..55630124-chr19:55683805..55687284,3	K562	blood:

No data

Variant related genes	Relation type
SYT5	TF binding region
ENSG00000171443	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000267110	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12459688	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12459887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12459917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12459921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12459930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12460445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12461148	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12461170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12461195	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461202	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463268	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17458	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278281	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288420	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288518	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2288528	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288529	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301278	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3745922	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3786867	0.95[ASN][1000 genomes]
rs3803903	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3826887	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3848618	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3859544	0.93[ASN][1000 genomes]
rs56666700	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56726774	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58017412	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58218194	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58824375	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59663064	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60176657	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60799292	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61570139	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61704307	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7247152	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7247378	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7255625	0.92[ASN][1000 genomes]
rs8101500	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs890871	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9710458	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912453	chr19:55672007-55690398	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55684400-55686800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:55684800-55687000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:55684800-55687000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr19:55685000-55686800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr19:55685200-55686800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:55685200-55690400	Weak transcription	Gastric	stomach
7	chr19:55685400-55687000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
8	chr19:55685400-55687000	Bivalent Enhancer	Placenta	Placenta
9	chr19:55685600-55686800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr19:55685600-55686800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr19:55685600-55687800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:55685600-55690400	Weak transcription	Pancreas	Pancrea
13	chr19:55685600-55690400	Weak transcription	Right Atrium	heart
14	chr19:55685800-55686800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:55685800-55686800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
16	chr19:55685800-55686800	Bivalent Enhancer	Spleen	Spleen
17	chr19:55685800-55687000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:55685800-55690200	Weak transcription	Osteobl	bone
19	chr19:55685800-55690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:55686000-55686800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr19:55686000-55687000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:55686000-55687000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:55686000-55689200	Weak transcription	Hela-S3	cervix
24	chr19:55686000-55690200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:55686000-55690200	Weak transcription	A549	lung
26	chr19:55686000-55690200	Weak transcription	NHEK	skin
27	chr19:55686200-55686800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:55686200-55686800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:55686200-55687000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:55686200-55687200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:55686200-55688000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:55686200-55689600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:55686400-55686800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr19:55686400-55686800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr19:55686400-55686800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr19:55686600-55686800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr19:55686600-55686800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr19:55686600-55686800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:55686600-55686800	Bivalent Enhancer	Aorta	Aorta
40	chr19:55686600-55686800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr19:55686600-55686800	Bivalent Enhancer	Right Ventricle	heart
42	chr19:55686600-55686800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr19:55686600-55687000	Bivalent Enhancer	Fetal Thymus	thymus
44	chr19:55686600-55687400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:55686600-55687800	Flanking Active TSS	K562	blood

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