Variant report

Variant	rs1968027
Chromosome Location	chr1:78191727-78191728
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	MAFF	chr1:78191407-78191771	K562	blood:	n/a	chr1:78191576-78191594 chr1:78191582-78191596
2	MAFK	chr1:78191374-78191770	IMR90	lung:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
3	MAFK	chr1:78191230-78191818	GM12878	blood:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
4	MAFK	chr1:78191401-78191774	HepG2	liver:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
5	MAFK	chr1:78191404-78191766	HepG2	liver:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
6	MAFF	chr1:78191335-78191774	HepG2	liver:	n/a	chr1:78191576-78191594 chr1:78191582-78191596
7	POLR2A	chr1:78190723-78191790	K562	blood:	n/a	n/a
8	MAFK	chr1:78191416-78191753	H1-hESC	embryonic stem cell:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
9	POLR2A	chr1:78191702-78191870	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr1:78191281-78191771	K562	blood:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599
11	MAFK	chr1:78191404-78191754	Hela-S3	cervix:	n/a	chr1:78191578-78191594 chr1:78191582-78191596 chr1:78191578-78191593 chr1:78191581-78191597 chr1:78191579-78191590 chr1:78191579-78191599

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78185416..78187770-chr1:78190995..78192556,2	K562	blood:

Variant related genes	Relation type
USP33	TF binding region
ENSG00000077254	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs278846	0.94[ASN][1000 genomes]
rs278853	0.87[ASN][1000 genomes]
rs4121165	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57075265	0.96[ASN][1000 genomes]
rs61777140	0.84[ASN][1000 genomes]
rs7525870	0.82[ASN][1000 genomes]
rs9787306	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv508326	chr1:78184379-78234247	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1968027	DNAJB4	Cis_1M	lymphoblastoid	RTeQTL
rs1968027	NEXN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
3	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:78171800-78197600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr1:78171800-78198000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
7	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
11	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:78172000-78197800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
15	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:78172200-78195800	Strong transcription	Fetal Thymus	thymus
17	chr1:78172200-78196200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:78172200-78197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:78172200-78197800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:78172200-78206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:78172400-78197800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:78172400-78200000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:78172400-78207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:78172600-78195600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:78172600-78198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:78172600-78205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:78173200-78198400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:78173800-78224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:78174000-78194000	Weak transcription	Fetal Heart	heart
30	chr1:78174200-78207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:78176400-78205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:78176800-78205800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:78178600-78196200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:78179600-78194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:78179600-78194600	Weak transcription	Gastric	stomach
36	chr1:78180600-78195600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:78180600-78199800	Strong transcription	Fetal Intestine Large	intestine
38	chr1:78181200-78196200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:78181200-78197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:78181400-78193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:78182400-78194000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:78182400-78210200	Weak transcription	Psoas Muscle	Psoas
43	chr1:78182800-78194600	Weak transcription	Spleen	Spleen
44	chr1:78182800-78210200	Weak transcription	Right Ventricle	heart
45	chr1:78183000-78194600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:78183200-78192400	Strong transcription	Fetal Brain Female	brain
47	chr1:78185200-78200200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:78185400-78197600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:78185400-78203000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:78185600-78198200	Strong transcription	Primary B cells from peripheral blood	blood

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