Variant report

Variant	rs2304156
Chromosome Location	chr19:51522286-51522287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:51522030-51522597	A549	lung:	n/a	n/a
2	CEBPB	chr19:51522166-51522477	K562	blood:	n/a	n/a
3	CEBPB	chr19:51522196-51522478	IMR90	lung:	n/a	n/a
4	MAZ	chr19:51522167-51522423	HepG2	liver:	n/a	n/a
5	CEBPD	chr19:51522227-51522430	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:51521912-51523512	HCT-116	colon:	n/a	n/a
7	CTCF	chr19:51522280-51522430	NHEK	skin:	n/a	n/a
8	CEBPB	chr19:51521870-51522826	HCT-116	colon:	n/a	n/a
9	CEBPB	chr19:51522139-51522507	A549	lung:	n/a	n/a
10	CEBPB	chr19:51522136-51522487	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:51522116-51522790	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPD	chr19:51522222-51522447	HepG2	liver:	n/a	n/a
13	CTCF	chr19:51522240-51522390	HMEC	breast:	n/a	chr19:51522276-51522289
14	CTCF	chr19:51522220-51522370	HEEpiC	esophagus:	n/a	chr19:51522276-51522289
15	CEBPB	chr19:51522195-51522377	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:51522123-51522499	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:51522155-51522480	A549	lung:	n/a	n/a
18	CEBPB	chr19:51522216-51522432	K562	blood:	n/a	n/a
19	POLR2A	chr19:51521885-51523853	HCT-116	colon:	n/a	n/a
20	HDAC2	chr19:51522161-51522445	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51517770..51520731-chr19:51521022..51523368,3	MCF-7	breast:
2	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:

No data

Variant related genes	Relation type
KLK10	TF binding region
ENSG00000167747	Chromatin interaction
ENSG00000129451	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1061368	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12981039	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2075696	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2222554	0.80[EUR][1000 genomes]
rs2569439	0.80[EUR][1000 genomes]
rs2569440	0.81[EUR][1000 genomes]
rs2569443	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2691209	0.83[ASN][1000 genomes]
rs2691257	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2739429	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7259451	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51519800-51522400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr19:51520000-51522400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:51520000-51522400	Active TSS	NHEK	skin
4	chr19:51520000-51522800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr19:51520000-51523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:51520000-51523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:51520000-51523400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:51520200-51523000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:51520200-51523400	Active TSS	Ovary	ovary
10	chr19:51520400-51523600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:51520800-51522800	Active TSS	Right Ventricle	heart
12	chr19:51520800-51523400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr19:51521000-51522400	Weak transcription	Gastric	stomach
14	chr19:51521000-51523200	Active TSS	Esophagus	oesophagus
15	chr19:51521400-51522600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr19:51521600-51522600	Bivalent/Poised TSS	A549	lung
17	chr19:51521800-51522400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:51521800-51522400	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr19:51521800-51522800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
20	chr19:51521800-51522800	Bivalent/Poised TSS	HepG2	liver
21	chr19:51521800-51523000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:51522000-51522400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:51522000-51522400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:51522000-51522400	Active TSS	Brain Anterior Caudate	brain
25	chr19:51522000-51522400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr19:51522000-51522400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr19:51522000-51522400	Active TSS	Right Atrium	heart
28	chr19:51522000-51522600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:51522000-51522600	Bivalent/Poised TSS	Left Ventricle	heart
30	chr19:51522000-51522600	Active TSS	Psoas Muscle	Psoas
31	chr19:51522000-51522600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr19:51522000-51522600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr19:51522000-51522600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr19:51522000-51522800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:51522000-51522800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:51522000-51522800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:51522000-51522800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:51522000-51522800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:51522000-51522800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr19:51522000-51522800	Bivalent Enhancer	Fetal Lung	lung
41	chr19:51522000-51522800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr19:51522000-51522800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
43	chr19:51522000-51522800	Bivalent/Poised TSS	Thymus	Thymus
44	chr19:51522000-51523000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr19:51522000-51523000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:51522000-51523000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:51522000-51523000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:51522000-51523000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr19:51522000-51523000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:51522000-51523000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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