Variant report

Variant	rs8100654
Chromosome Location	chr19:56637222-56637223
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr19:56637068-56637665	K562	blood:	n/a	n/a
2	STAT5A	chr19:56637186-56637616	K562	blood:	n/a	n/a
3	MEF2A	chr19:56637151-56637621	K562	blood:	n/a	n/a
4	RCOR1	chr19:56637077-56637805	K562	blood:	n/a	n/a
5	GABPA	chr19:56637151-56637621	K562	blood:	n/a	n/a
6	TBL1XR1	chr19:56637105-56637630	K562	blood:	n/a	n/a
7	POLR2A	chr19:56637212-56637551	K562	blood:	n/a	n/a
8	PML	chr19:56637214-56637683	K562	blood:	n/a	n/a
9	UBTF	chr19:56637068-56637390	K562	blood:	n/a	n/a
10	BHLHE40	chr19:56636955-56637690	K562	blood:	n/a	chr19:56637336-56637352
11	GATA2	chr19:56637194-56637640	K562	blood:	n/a	n/a
12	MYC	chr19:56637149-56637629	K562	blood:	n/a	n/a
13	MAX	chr19:56637151-56637620	K562	blood:	n/a	n/a
14	TRIM28	chr19:56637196-56637716	K562	blood:	n/a	n/a
15	GATA1	chr19:56636885-56637838	PBDE	blood:	n/a	n/a
16	ELF1	chr19:56637145-56637504	K562	blood:	n/a	n/a
17	TBL1XR1	chr19:56637079-56637588	K562	blood:	n/a	n/a
18	TEAD4	chr19:56637065-56637724	K562	blood:	n/a	n/a
19	EP300	chr19:56637165-56637620	K562	blood:	n/a	n/a
20	TEAD4	chr19:56637082-56637560	K562	blood:	n/a	n/a
21	UBTF	chr19:56637127-56637567	K562	blood:	n/a	n/a
22	MAX	chr19:56637212-56637570	K562	blood:	n/a	n/a
23	ATF1	chr19:56637165-56637578	K562	blood:	n/a	n/a
24	CEBPD	chr19:56637201-56637688	K562	blood:	n/a	n/a
25	MYC	chr19:56637190-56637653	K562	blood:	n/a	n/a
26	GATA2	chr19:56637043-56637624	K562	blood:	n/a	n/a
27	STAT5A	chr19:56637155-56637702	K562	blood:	n/a	chr19:56637163-56637172 chr19:56637164-56637173
28	KAP1	chr19:56637152-56637541	K562	blood:	n/a	n/a
29	POLR2A	chr19:56637153-56637584	K562	blood:	n/a	n/a
30	RCOR1	chr19:56637126-56637668	K562	blood:	n/a	n/a
31	REST	chr19:56637217-56637575	K562	blood:	n/a	n/a
32	JUND	chr19:56637127-56637700	K562	blood:	n/a	n/a
33	MXI1	chr19:56637133-56637661	K562	blood:	n/a	n/a
34	TBP	chr19:56637107-56637596	K562	blood:	n/a	n/a
35	CBX3	chr19:56637139-56637679	K562	blood:	n/a	n/a
36	NR2F2	chr19:56636942-56637690	K562	blood:	n/a	n/a
37	GABPA	chr19:56637113-56637514	K562	blood:	n/a	n/a
38	HMGN3	chr19:56637217-56637577	K562	blood:	n/a	n/a
39	GATA2	chr19:56637171-56637633	K562	blood:	n/a	n/a
40	ZMIZ1	chr19:56637182-56637566	K562	blood:	n/a	n/a
41	TAL1	chr19:56636974-56637710	K562	blood:	n/a	chr19:56637428-56637446
42	MAZ	chr19:56637145-56637590	K562	blood:	n/a	n/a
43	MAX	chr19:56637189-56637698	K562	blood:	n/a	n/a
44	ZBTB7A	chr19:56637167-56637414	K562	blood:	n/a	n/a
45	PML	chr19:56637165-56637676	K562	blood:	n/a	n/a
46	HDAC2	chr19:56637201-56637472	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56636040..56638265-chr19:56651210..56653201,2	K562	blood:
2	chr19:56637204..56640116-chr19:56644041..56647745,4	K562	blood:
3	chr19:56635952..56638231-chr19:56646331..56649019,3	MCF-7	breast:
4	chr19:56634814..56637617-chr19:56650729..56653163,3	MCF-7	breast:
5	chr19:56630485..56634048-chr19:56635782..56640573,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF787	TF binding region
ENSG00000167685	Chromatin interaction
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58226838	1.00[AMR][1000 genomes]
rs58683579	1.00[AMR][1000 genomes]
rs59213358	1.00[AMR][1000 genomes]
rs59350262	1.00[AMR][1000 genomes]
rs59697409	1.00[AMR][1000 genomes]
rs61067895	1.00[AMR][1000 genomes]
rs7248244	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615795	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615800	1.00[AMR][1000 genomes]
rs73617560	1.00[AMR][1000 genomes]
rs73934668	1.00[AMR][1000 genomes]
rs73934672	1.00[AMR][1000 genomes]
rs73934741	1.00[AMR][1000 genomes]
rs8102375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56633600-56637400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:56633600-56637400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:56633600-56637400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr19:56633600-56637400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:56633600-56637400	Weak transcription	Fetal Intestine Large	intestine
6	chr19:56633600-56637600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:56633600-56638400	Weak transcription	Spleen	Spleen
8	chr19:56633600-56638800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:56633600-56639400	Enhancers	Primary T cells from cord blood	blood
10	chr19:56633800-56637400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:56633800-56637800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr19:56633800-56637800	Weak transcription	Fetal Kidney	kidney
13	chr19:56634000-56637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:56634000-56640800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:56634000-56645400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:56634400-56638400	Enhancers	Fetal Thymus	thymus
17	chr19:56634800-56637400	Enhancers	Thymus	Thymus
18	chr19:56636200-56639200	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:56636200-56639200	Enhancers	Fetal Muscle Leg	muscle
20	chr19:56636800-56637400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:56636800-56637400	Enhancers	HSMMtube	muscle
22	chr19:56636800-56637800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:56636800-56637800	Enhancers	Fetal Stomach	stomach
24	chr19:56636800-56637800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr19:56636800-56637800	Flanking Active TSS	HepG2	liver
26	chr19:56636800-56638400	Enhancers	Placenta	Placenta
27	chr19:56636800-56638600	Enhancers	Pancreas	Pancrea
28	chr19:56636800-56639000	Enhancers	Colonic Mucosa	Colon
29	chr19:56637000-56637400	Enhancers	Psoas Muscle	Psoas
30	chr19:56637000-56637800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:56637000-56637800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:56637000-56637800	Flanking Active TSS	HSMM	muscle
33	chr19:56637000-56637800	Flanking Active TSS	K562	blood
34	chr19:56637000-56639200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr19:56637200-56637400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:56637200-56637400	Enhancers	Fetal Lung	lung
37	chr19:56637200-56637800	Enhancers	Fetal Intestine Small	intestine
38	chr19:56637200-56637800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr19:56637200-56637800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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