Variant report

Variant	rs66626994
Chromosome Location	chr19:45428234-45428235
allele	A/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	RFX5	chr19:45427475-45431911	SK-N-SH	brain:	n/a	chr19:45430492-45430500 chr19:45429608-45429617 chr19:45430482-45430497
2	HEY1	chr19:45427213-45429198	HepG2	liver:	n/a	n/a
3	RFX5	chr19:45428229-45431856	IMR90	lung:	n/a	chr19:45430492-45430500 chr19:45429608-45429617 chr19:45430482-45430497
4	FOXA2	chr19:45427273-45428247	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:45428198-45429112	HepG2	liver:	n/a	n/a
6	MAZ	chr19:45428234-45429160	IMR90	lung:	n/a	chr19:45428832-45428845 chr19:45428834-45428843 chr19:45428835-45428844 chr19:45428833-45428844 chr19:45428833-45428844
7	POLR2A	chr19:45427272-45428861	HepG2	liver:	n/a	n/a
8	EGR1	chr19:45428146-45428444	K562	blood:	n/a	n/a
9	POLR2A	chr19:45426801-45428285	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45409319..45412903-chr19:45425106..45429142,3	K562	blood:

Variant related genes	Relation type
APOC1P1	TF binding region
ENSG00000130203	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12721046	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3413514	chr19:45418155-45430302	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3360992	chr19:45418805-45430721	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3347246	chr19:45423830-45452348	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3388554	chr19:45424146-45430075	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45418800-45430000	Weak transcription	Right Atrium	heart
2	chr19:45419000-45429800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:45423600-45430000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:45425400-45431800	Enhancers	Placenta	Placenta
5	chr19:45427000-45431400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:45427200-45428400	Enhancers	A549	lung
7	chr19:45427200-45429200	Flanking Active TSS	HepG2	liver
8	chr19:45427200-45430200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:45427200-45431400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:45427200-45431400	Enhancers	Fetal Lung	lung
11	chr19:45427200-45431600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:45427400-45428400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:45427400-45428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr19:45427400-45428600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:45427400-45429000	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:45427400-45429200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr19:45427400-45429200	Enhancers	Ovary	ovary
18	chr19:45427400-45429400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:45427400-45430000	Enhancers	Brain Anterior Caudate	brain
20	chr19:45427400-45430000	Enhancers	Brain Cingulate Gyrus	brain
21	chr19:45427400-45430000	Enhancers	HSMM	muscle
22	chr19:45427400-45430200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:45427400-45430200	Enhancers	Fetal Muscle Leg	muscle
24	chr19:45427400-45431200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr19:45427400-45431400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:45427400-45431400	Enhancers	Adipose Nuclei	Adipose
27	chr19:45427400-45431400	Enhancers	Brain Substantia Nigra	brain
28	chr19:45427400-45431600	Enhancers	NHDF-Ad	bronchial
29	chr19:45427400-45431600	Enhancers	NHLF	lung
30	chr19:45427600-45428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:45427600-45429200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:45427600-45429200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr19:45427600-45429400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr19:45427600-45429400	Enhancers	HSMMtube	muscle
35	chr19:45427600-45429800	Enhancers	Fetal Stomach	stomach
36	chr19:45427600-45430000	Enhancers	Brain Hippocampus Middle	brain
37	chr19:45427600-45430200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:45427600-45430200	Weak transcription	Fetal Intestine Small	intestine
39	chr19:45427600-45430200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr19:45427600-45430200	Enhancers	Osteobl	bone
41	chr19:45427600-45430800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr19:45427600-45430800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:45427600-45431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:45427600-45431600	Enhancers	Spleen	Spleen
45	chr19:45427800-45428800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:45427800-45429000	Enhancers	Lung	lung
47	chr19:45427800-45429600	Weak transcription	K562	blood
48	chr19:45427800-45429800	Weak transcription	Right Ventricle	heart
49	chr19:45427800-45430000	Weak transcription	Pancreas	Pancrea
50	chr19:45427800-45430000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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