Variant report

Variant	rs59713344
Chromosome Location	chr19:56143150-56143151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:56143080-56143230	GM12875	blood:	n/a	n/a
2	MAX	chr19:56142965-56143316	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:56143100-56143250	HEEpiC	esophagus:	n/a	n/a
4	ARID3A	chr19:56143032-56143293	K562	blood:	n/a	n/a
5	TCF3	chr19:56143058-56143292	GM12878	blood:	n/a	n/a
6	CTCF	chr19:56143120-56143270	GM12873	blood:	n/a	n/a
7	CTCF	chr19:56142965-56143327	A549	lung:	n/a	n/a
8	CTCF	chr19:56143031-56143310	HepG2	liver:	n/a	n/a
9	CTCF	chr19:56143120-56143270	HAc	cerebellar:	n/a	n/a
10	CTCF	chr19:56143080-56143230	HMF	breast:	n/a	n/a
11	CTCF	chr19:56143140-56143290	GM12868	blood:	n/a	n/a
12	CTCF	chr19:56143140-56143290	BE2_C	brain:	n/a	n/a
13	CTCF	chr19:56142882-56143437	K562	blood:	n/a	n/a
14	CTCF	chr19:56143120-56143270	GM06990	blood:	n/a	n/a
15	CTCF	chr19:56143120-56143270	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr19:56143087-56143319	MCF-7	breast:	n/a	n/a
17	CTCF	chr19:56143100-56143250	HMF	breast:	n/a	n/a
18	RAD21	chr19:56142862-56143514	HCT-116	colon:	n/a	n/a
19	CTCF	chr19:56143080-56143230	HEK293	kidney:	n/a	n/a
20	CTCF	chr19:56143100-56143250	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr19:56143120-56143270	GM12870	blood:	n/a	n/a
22	TCF12	chr19:56143057-56143354	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr19:56143037-56143354	GM12878	blood:	n/a	n/a
24	FOS	chr19:56143117-56143303	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr19:56143100-56143250	GM12869	blood:	n/a	n/a
26	STAT1	chr19:56143041-56143244	GM12878	blood:	n/a	n/a
27	CTCF	chr19:56143100-56143250	A549	lung:	n/a	n/a
28	CTCF	chr19:56143140-56143290	HPF	lung:	n/a	n/a
29	MAX	chr19:56143071-56143305	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr19:56143100-56143250	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr19:56142962-56143277	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr19:56143045-56143254	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr19:56143080-56143230	HCM	heart:	n/a	n/a
34	EBF1	chr19:56143038-56143240	GM12878	blood:	n/a	n/a
35	CTCF	chr19:56143083-56143320	Kidney_OC	kidney:	n/a	n/a
36	ZNF384	chr19:56143036-56144002	K562	blood:	n/a	n/a
37	CTCF	chr19:56143100-56143250	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr19:56143120-56143270	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr19:56143078-56143316	Gliobla	brain:	n/a	n/a
40	CTCF	chr19:56143140-56143290	GM06990	blood:	n/a	n/a
41	CTCF	chr19:56142928-56143384	MCF-7	breast:	n/a	n/a
42	CTCF	chr19:56143074-56143334	GM19239	blood:	n/a	n/a
43	CTCF	chr19:56143081-56143336	GM12891	blood:	n/a	n/a
44	CTCF	chr19:56143060-56143341	GM12878	blood:	n/a	n/a
45	RAD21	chr19:56142986-56143296	K562	blood:	n/a	n/a
46	RAD21	chr19:56142904-56143385	MCF-7	breast:	n/a	n/a
47	CTCF	chr19:56143140-56143290	AG09319	gingival:	n/a	n/a
48	CTCF	chr19:56143069-56143352	GM19240	blood:	n/a	n/a
49	WRNIP1	chr19:56142958-56143174	GM12878	blood:	n/a	n/a
50	CTCF	chr19:56143140-56143290	HFF-Myc	foreskin:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55971246..55972817-chr19:56141565..56143228,2	K562	blood:
2	chr19:55977423..55979402-chr19:56142080..56144660,2	K562	blood:
3	chr19:55971044..55973132-chr19:56142310..56146274,4	MCF-7	breast:
4	chr19:56028026..56029013-chr19:56142690..56143698,5	MCF-7	breast:
5	chr1:110948254..110950984-chr19:56143128..56145485,2	MCF-7	breast:
6	chr19:56141613..56145221-chr19:56145237..56148178,3	K562	blood:
7	chr19:56027983..56029092-chr19:56143148..56144432,5	MCF-7	breast:
8	chr19:56142986..56144426-chr19:56164686..56165624,6	K562	blood:
9	chr19:56143043..56143692-chr19:56151602..56152128,2	K562	blood:
10	chr19:56027638..56029076-chr19:56142740..56144440,16	K562	blood:
11	chr19:56123203..56125337-chr19:56143118..56145205,2	MCF-7	breast:
12	chr19:56028415..56030302-chr19:56141642..56143441,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF581	TF binding region
ZNF580	TF binding region
ENSG00000213015	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000224699	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000134248	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11881863	0.86[EUR][1000 genomes]
rs60193103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73058314	0.86[EUR][1000 genomes]
rs73058316	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 target site	67 gene(s)	inside rSNPs	diseases
9	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
10	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56136400-56145600	Weak transcription	Right Atrium	heart
2	chr19:56136400-56146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:56136600-56143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:56136800-56143200	Weak transcription	Fetal Heart	heart
5	chr19:56136800-56143200	Weak transcription	Fetal Intestine Large	intestine
6	chr19:56136800-56143200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:56136800-56143600	Weak transcription	Colonic Mucosa	Colon
8	chr19:56136800-56144000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:56136800-56144000	Weak transcription	NHDF-Ad	bronchial
10	chr19:56136800-56145200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:56136800-56145200	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:56136800-56145600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:56137000-56144000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:56137200-56145800	Weak transcription	Fetal Brain Female	brain
15	chr19:56138200-56143400	Weak transcription	Fetal Intestine Small	intestine
16	chr19:56138400-56143200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:56138800-56145600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:56140200-56144000	Weak transcription	Spleen	Spleen
19	chr19:56141400-56144000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:56142600-56144000	Weak transcription	Brain Anterior Caudate	brain
21	chr19:56142800-56144200	Enhancers	Primary T cells from cord blood	blood
22	chr19:56142800-56144200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:56142800-56144200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:56142800-56144200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:56142800-56144200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr19:56142800-56144400	Enhancers	Primary B cells from peripheral blood	blood
27	chr19:56142800-56144400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr19:56143000-56143200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:56143000-56143200	Enhancers	Stomach Mucosa	stomach
30	chr19:56143000-56143400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:56143000-56143600	Enhancers	HepG2	liver
32	chr19:56143000-56143800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr19:56143000-56144200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr19:56143000-56144200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:56143000-56144200	Enhancers	Primary B cells from cord blood	blood
36	chr19:56143000-56144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr19:56143000-56144200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:56143000-56144200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:56143000-56144200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr19:56143000-56144200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr19:56143000-56144200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:56143000-56144200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:56143000-56144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr19:56143000-56144200	Enhancers	Fetal Thymus	thymus
45	chr19:56143000-56144200	Enhancers	Thymus	Thymus
46	chr19:56143000-56144200	Enhancers	GM12878-XiMat	blood
47	chr19:56143000-56145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:56143000-56145600	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:56143000-56145800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links