Variant report

Variant	rs60956916
Chromosome Location	chr19:53195039-53195040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr19:53194953-53195326	GM12878	blood:	n/a	n/a
2	IRF4	chr19:53194943-53195326	GM12878	blood:	n/a	n/a
3	RCOR1	chr19:53194970-53195437	GM12878	blood:	n/a	n/a
4	EP300	chr19:53194922-53195457	GM12878	blood:	n/a	n/a
5	MYC	chr19:53195003-53195281	K562	blood:	n/a	n/a
6	CHD2	chr19:53194957-53195373	GM12878	blood:	n/a	n/a
7	RUNX3	chr19:53194986-53195348	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:53194976-53195415	GM12878	blood:	n/a	n/a
9	TBP	chr19:53194935-53195344	GM12878	blood:	n/a	n/a
10	IKZF1	chr19:53195013-53195371	GM12878	blood:	n/a	n/a
11	RELA	chr19:53195018-53195376	GM12878	blood:	n/a	n/a
12	MAX	chr19:53194973-53195415	GM12878	blood:	n/a	n/a
13	MXI1	chr19:53194874-53195497	GM12878	blood:	n/a	n/a
14	EBF1	chr19:53194753-53195494	GM12878	blood:	n/a	n/a
15	CHD1	chr19:53194968-53195526	GM12878	blood:	n/a	n/a
16	EP300	chr19:53195014-53195341	GM12878	blood:	n/a	n/a
17	TCF12	chr19:53194999-53195307	GM12878	blood:	n/a	n/a
18	MAX	chr19:53194937-53195302	K562	blood:	n/a	n/a
19	POU2F2	chr19:53194922-53195414	GM12878	blood:	n/a	n/a
20	JUND	chr19:53194836-53195538	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:53194989-53195320	GM12878	blood:	n/a	n/a
22	EBF1	chr19:53194925-53195340	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:53194937-53195373	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr19:53195023-53195335	GM12878	blood:	n/a	n/a
25	PAX5	chr19:53195008-53195272	GM12878	blood:	n/a	n/a
26	EP300	chr19:53194861-53195549	GM12878	blood:	n/a	n/a
27	JUN	chr19:53194978-53195178	K562	blood:	n/a	n/a
28	STAT3	chr19:53195011-53195340	GM12878	blood:	n/a	n/a
29	MAZ	chr19:53195014-53195373	GM12878	blood:	n/a	n/a
30	SIN3A	chr19:53194901-53195308	GM12878	blood:	n/a	n/a
31	CUX1	chr19:53195016-53195354	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:

No data

Variant related genes	Relation type
ZNF83	TF binding region
ENSG00000198538	Chromatin interaction
ENSG00000204604	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58494379	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61545816	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73590059	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73934854	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
5	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv458744	chr19:53120559-53236331	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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 target site	9 gene(s)	inside rSNPs	diseases
16	nsv580028	chr19:53120559-53236331	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	esv3489404	chr19:53121944-53391394	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
18	esv3489405	chr19:53121944-53391394	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
19	nsv961238	chr19:53144650-53221094	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
21	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv912319	chr19:53152923-53241107	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv912320	chr19:53164172-53243026	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv912321	chr19:53186836-53451291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
25	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
26	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
28	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53194000-53195200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:53194200-53195600	Flanking Active TSS	K562	blood
3	chr19:53194200-53207200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53194400-53196800	Weak transcription	Small Intestine	intestine
5	chr19:53194400-53197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:53194400-53197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:53194600-53195200	Enhancers	Dnd41	blood
8	chr19:53194600-53195600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr19:53194600-53208400	Weak transcription	Hela-S3	cervix
10	chr19:53194600-53208800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:53194800-53195200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr19:53194800-53195200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr19:53194800-53195200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:53194800-53195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:53194800-53195200	Enhancers	Brain Germinal Matrix	brain
16	chr19:53194800-53195200	Enhancers	Fetal Lung	lung
17	chr19:53194800-53195200	Enhancers	GM12878-XiMat	blood
18	chr19:53194800-53195400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:53194800-53195400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:53194800-53195400	Enhancers	Fetal Muscle Leg	muscle
21	chr19:53194800-53195800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:53194800-53196400	Weak transcription	Placenta	Placenta
23	chr19:53194800-53202600	Weak transcription	Stomach Mucosa	stomach
24	chr19:53194800-53205000	Weak transcription	Fetal Brain Female	brain
25	chr19:53194800-53207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:53194800-53207600	Weak transcription	Brain Anterior Caudate	brain
27	chr19:53194800-53208400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:53194800-53218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:53195000-53195200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr19:53195000-53195200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:53195000-53195200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:53195000-53196000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:53195000-53207800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:53195000-53210600	Weak transcription	Fetal Stomach	stomach

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