Variant report

Variant	rs502722
Chromosome Location	chr19:56663256-56663257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:56662961-56663359	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:56662949-56663353	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:56663243-56663259	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:56662016-56663310	K562	blood:	n/a	n/a
5	CTCF	chr19:56663140-56663290	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56662631..56664494-chr19:56667011..56669719,2	K562	blood:
2	chr19:56657267..56658891-chr19:56660512..56663390,2	K562	blood:

Variant related genes	Relation type
ENSG00000204533	TF binding region
ZNF444	TF binding region
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2637084	0.87[ASN][1000 genomes]
rs2637085	0.88[ASN][1000 genomes]
rs274147	0.82[ASN][1000 genomes]
rs274148	0.85[ASN][1000 genomes]
rs274149	0.88[ASN][1000 genomes]
rs274150	0.87[ASN][1000 genomes]
rs274153	0.87[ASN][1000 genomes]
rs274176	0.91[ASN][1000 genomes]
rs274178	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274179	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274184	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274185	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs679557	0.87[ASN][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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:56653800-56664200	Weak transcription	HUVEC	blood vessel
3	chr19:56653800-56667200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:56653800-56669200	Weak transcription	HSMM	muscle
5	chr19:56653800-56669400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
7	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
8	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:56654400-56668400	Weak transcription	HMEC	breast
11	chr19:56654400-56671200	Weak transcription	Small Intestine	intestine
12	chr19:56655200-56672200	Weak transcription	NHDF-Ad	bronchial
13	chr19:56656400-56664800	Weak transcription	K562	blood
14	chr19:56656400-56667400	Weak transcription	Stomach Mucosa	stomach
15	chr19:56656400-56672200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:56657200-56664000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:56657400-56663400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:56659200-56673000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:56659400-56664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:56659400-56667200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:56659400-56671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:56659600-56670400	Weak transcription	NHEK	skin
23	chr19:56659800-56663800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:56660000-56668000	Weak transcription	Colonic Mucosa	Colon
25	chr19:56660200-56663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:56660200-56664200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:56660200-56664600	Weak transcription	Aorta	Aorta
28	chr19:56660200-56666000	Weak transcription	NHLF	lung
29	chr19:56660200-56670400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:56660400-56663400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:56660400-56664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:56660400-56664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:56660400-56664200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:56660400-56664600	Weak transcription	Spleen	Spleen
35	chr19:56660400-56666000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:56660400-56666400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:56660400-56666800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:56660400-56667200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr19:56660600-56663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:56660600-56665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:56661400-56664000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:56661400-56664000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:56661400-56665400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
45	chr19:56661600-56663800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:56661600-56663800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:56661600-56663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:56661600-56663800	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:56661600-56663800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:56661600-56664000	Weak transcription	Gastric	stomach

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