Variant report

Variant	rs10424663
Chromosome Location	chr19:45429099-45429100
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	CEBPB	chr19:45428612-45429310	IMR90	lung:	n/a	chr19:45428766-45428777
3	HNF4A	chr19:45428572-45429110	HepG2	liver:	n/a	chr19:45428923-45428937
4	RXRA	chr19:45428505-45429182	HepG2	liver:	n/a	n/a
5	MYBL2	chr19:45428472-45429198	HepG2	liver:	n/a	n/a
6	HEY1	chr19:45427213-45429198	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr19:45428545-45429201	HepG2	liver:	n/a	chr19:45428717-45428725
8	CEBPD	chr19:45428486-45429103	HepG2	liver:	n/a	chr19:45428765-45428776 chr19:45428803-45428814
9	ZBTB7A	chr19:45428555-45429107	HepG2	liver:	n/a	chr19:45428717-45428725
10	RFX5	chr19:45428229-45431856	IMR90	lung:	n/a	chr19:45430492-45430500 chr19:45429608-45429617 chr19:45430482-45430497
11	EP300	chr19:45428473-45429129	HepG2	liver:	n/a	chr19:45428763-45428777
12	RFX5	chr19:45428672-45429100	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:45428838-45430602	K562	blood:	n/a	n/a
14	MAX	chr19:45428449-45429171	HepG2	liver:	n/a	chr19:45428832-45428845 chr19:45428834-45428843 chr19:45428835-45428844 chr19:45428833-45428844 chr19:45428833-45428844
15	NFIC	chr19:45428365-45429196	HepG2	liver:	n/a	n/a
16	HNF4A	chr19:45428604-45429126	HepG2	liver:	n/a	chr19:45428923-45428937
17	SP1	chr19:45428404-45429255	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:45428198-45429112	HepG2	liver:	n/a	n/a
19	MYBL2	chr19:45428377-45429239	HepG2	liver:	n/a	n/a
20	MBD4	chr19:45428593-45429113	HepG2	liver:	n/a	n/a
21	MBD4	chr19:45428426-45429131	HepG2	liver:	n/a	n/a
22	MAZ	chr19:45428234-45429160	IMR90	lung:	n/a	chr19:45428832-45428845 chr19:45428834-45428843 chr19:45428835-45428844 chr19:45428833-45428844 chr19:45428833-45428844
23	RXRA	chr19:45428577-45429269	HepG2	liver:	n/a	n/a
24	HDAC2	chr19:45428493-45429148	HepG2	liver:	n/a	n/a
25	NFIC	chr19:45428420-45429163	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:45429037-45429280	HepG2	liver:	n/a	n/a
27	FOXA1	chr19:45428528-45429110	HepG2	liver:	n/a	n/a
28	HEY1	chr19:45428430-45429132	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:45428605-45429317	HepG2	liver:	n/a	chr19:45428766-45428777
30	HNF4A	chr19:45428664-45429137	HepG2	liver:	n/a	chr19:45428923-45428937
31	TCF12	chr19:45428552-45429108	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:45428608-45429316	HepG2	liver:	n/a	chr19:45428766-45428777
33	HNF4G	chr19:45428550-45429104	HepG2	liver:	n/a	chr19:45428923-45428937
34	TEAD4	chr19:45428444-45429121	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:45428510-45429141	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:45428871-45429297	HepG2	liver:	n/a	n/a
37	MAX	chr19:45428482-45429158	HepG2	liver:	n/a	chr19:45428832-45428845 chr19:45428834-45428843 chr19:45428835-45428844 chr19:45428833-45428844 chr19:45428833-45428844
38	FOSL2	chr19:45428484-45429176	HepG2	liver:	n/a	n/a
39	EP300	chr19:45428397-45429135	HepG2	liver:	n/a	chr19:45428763-45428777
40	POLR2A	chr19:45428665-45429116	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45428614..45431090-chr19:45445301..45448167,2	K562	blood:
2	chr19:45409319..45412903-chr19:45425106..45429142,3	K562	blood:
3	chr19:45428887..45430724-chr19:45458504..45460514,2	MCF-7	breast:

Variant related genes	Relation type
APOC1P1	TF binding region
ENSG00000104853	Chromatin interaction
ENSG00000224916	Chromatin interaction
ENSG00000130203	Chromatin interaction
ENSG00000267467	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11667640	1.00[CHB][hapmap]
rs11672399	1.00[CHB][hapmap]
rs11879589	1.00[CHB][hapmap]
rs157591	1.00[AMR][1000 genomes]
rs157598	0.88[AFR][1000 genomes]
rs3852857	1.00[CHB][hapmap]
rs394819	0.82[ASW][hapmap];0.96[MKK][hapmap]
rs4081918	1.00[CHB][hapmap]

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:64 , 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	chr19:45427200-45429200	Flanking Active TSS	HepG2	liver
7	chr19:45427200-45430200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:45427200-45431400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:45427200-45431400	Enhancers	Fetal Lung	lung
10	chr19:45427200-45431600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:45427400-45429200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr19:45427400-45429200	Enhancers	Ovary	ovary
13	chr19:45427400-45429400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:45427400-45430000	Enhancers	Brain Anterior Caudate	brain
15	chr19:45427400-45430000	Enhancers	Brain Cingulate Gyrus	brain
16	chr19:45427400-45430000	Enhancers	HSMM	muscle
17	chr19:45427400-45430200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:45427400-45430200	Enhancers	Fetal Muscle Leg	muscle
19	chr19:45427400-45431200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr19:45427400-45431400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:45427400-45431400	Enhancers	Adipose Nuclei	Adipose
22	chr19:45427400-45431400	Enhancers	Brain Substantia Nigra	brain
23	chr19:45427400-45431600	Enhancers	NHDF-Ad	bronchial
24	chr19:45427400-45431600	Enhancers	NHLF	lung
25	chr19:45427600-45429200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:45427600-45429200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr19:45427600-45429400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr19:45427600-45429400	Enhancers	HSMMtube	muscle
29	chr19:45427600-45429800	Enhancers	Fetal Stomach	stomach
30	chr19:45427600-45430000	Enhancers	Brain Hippocampus Middle	brain
31	chr19:45427600-45430200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:45427600-45430200	Weak transcription	Fetal Intestine Small	intestine
33	chr19:45427600-45430200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr19:45427600-45430200	Enhancers	Osteobl	bone
35	chr19:45427600-45430800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr19:45427600-45430800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:45427600-45431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:45427600-45431600	Enhancers	Spleen	Spleen
39	chr19:45427800-45429600	Weak transcription	K562	blood
40	chr19:45427800-45429800	Weak transcription	Right Ventricle	heart
41	chr19:45427800-45430000	Weak transcription	Pancreas	Pancrea
42	chr19:45427800-45430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:45427800-45430200	Weak transcription	Colonic Mucosa	Colon
44	chr19:45428000-45429800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:45428200-45430200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:45428200-45430800	Enhancers	Brain Angular Gyrus	brain
47	chr19:45428400-45429200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:45428400-45429200	Enhancers	Brain Germinal Matrix	brain
49	chr19:45428400-45430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:45428400-45430200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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