Variant report

Variant	rs35125447
Chromosome Location	chr19:51522755-51522756
allele	-/G
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	BACH1	chr19:51522550-51522779	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:51521912-51523512	HCT-116	colon:	n/a	n/a
3	CEBPB	chr19:51521870-51522826	HCT-116	colon:	n/a	n/a
4	CEBPB	chr19:51522116-51522790	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr19:51522350-51522868	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:51522740-51522890	SAEC	small airway:	n/a	chr19:51522804-51522817
7	POLR2A	chr19:51521885-51523853	HCT-116	colon:	n/a	n/a

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:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10425377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56035820	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62115757	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248342	0.89[ASN][1000 genomes]
rs7252982	0.89[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51520000-51522800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr19:51520000-51523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:51520000-51523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:51520000-51523400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:51520200-51523000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:51520200-51523400	Active TSS	Ovary	ovary
7	chr19:51520400-51523600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:51520800-51522800	Active TSS	Right Ventricle	heart
9	chr19:51520800-51523400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:51521000-51523200	Active TSS	Esophagus	oesophagus
11	chr19:51521800-51522800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
12	chr19:51521800-51522800	Bivalent/Poised TSS	HepG2	liver
13	chr19:51521800-51523000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:51522000-51522800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:51522000-51522800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:51522000-51522800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:51522000-51522800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:51522000-51522800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:51522000-51522800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr19:51522000-51522800	Bivalent Enhancer	Fetal Lung	lung
21	chr19:51522000-51522800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr19:51522000-51522800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr19:51522000-51522800	Bivalent/Poised TSS	Thymus	Thymus
24	chr19:51522000-51523000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr19:51522000-51523000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:51522000-51523000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:51522000-51523000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:51522000-51523000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr19:51522000-51523000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:51522000-51523000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:51522000-51523000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr19:51522000-51523000	Enhancers	Pancreas	Pancrea
33	chr19:51522000-51523400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:51522000-51523400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr19:51522000-51523600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr19:51522000-51524400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr19:51522200-51522800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:51522200-51523200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr19:51522200-51523800	Bivalent Enhancer	Placenta	Placenta
40	chr19:51522200-51523800	Enhancers	Lung	lung
41	chr19:51522400-51522800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:51522400-51522800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:51522400-51522800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:51522400-51522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:51522400-51522800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr19:51522400-51522800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr19:51522400-51522800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr19:51522400-51522800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:51522400-51522800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr19:51522400-51522800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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