Variant report

Variant	rs34128192
Chromosome Location	chr1:78446439-78446440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:78443332-78446830	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr1:78446338-78446516	H1-hESC	embryonic stem cell:	n/a	n/a
3	IRF1	chr1:78446138-78446462	K562	blood:	n/a	n/a
4	MXI1	chr1:78443286-78446480	IMR90	lung:	n/a	n/a
5	CHD1	chr1:78445924-78446458	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78441900..78447727-chr1:78466477..78473207,15	MCF-7	breast:
2	chr1:78147609..78151437-chr1:78443386..78446443,6	K562	blood:
3	chr1:78441980..78446801-chr1:78467462..78471771,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB4-1	chr1:78444779-78456066	NONHSAT004062

No data

Variant related genes	Relation type
FUBP1	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1135921	1.00[AMR][1000 genomes]
rs17100941	1.00[AMR][1000 genomes]
rs17101048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17101052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17101082	0.93[ASN][1000 genomes]
rs17101109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228247	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2296455	0.93[ASN][1000 genomes]
rs28362659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767026	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767027	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56325960	1.00[EUR][1000 genomes]
rs59087988	0.91[ASN][1000 genomes]
rs72685391	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv518855	chr1:78416669-78456355	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78441400-78446800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:78442000-78446800	Active TSS	GM12878-XiMat	blood
3	chr1:78442000-78447200	Active TSS	A549	lung
4	chr1:78442200-78446600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:78442600-78446600	Active TSS	Right Atrium	heart
6	chr1:78442600-78447000	Active TSS	Right Ventricle	heart
7	chr1:78442800-78446600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:78442800-78446600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:78442800-78446600	Active TSS	Fetal Kidney	kidney
10	chr1:78442800-78446600	Active TSS	NHLF	lung
11	chr1:78442800-78446800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:78442800-78447200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:78442800-78447200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:78443000-78446600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:78443000-78446600	Active TSS	HSMMtube	muscle
16	chr1:78443000-78446800	Active TSS	HMEC	breast
17	chr1:78443000-78447000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:78443000-78447600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:78443200-78446600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:78443600-78446800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:78443600-78447000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:78445400-78446600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:78445600-78446600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:78445600-78446600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr1:78445800-78446600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr1:78445800-78446600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:78445800-78446600	Flanking Active TSS	Fetal Brain Male	brain
28	chr1:78445800-78446600	Flanking Active TSS	Dnd41	blood
29	chr1:78445800-78449600	Weak transcription	Stomach Mucosa	stomach
30	chr1:78445800-78449800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:78446000-78446600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:78446000-78446600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:78446000-78446600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:78446000-78446600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:78446000-78446600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:78446000-78446600	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:78446000-78446600	Enhancers	Fetal Heart	heart
38	chr1:78446000-78446600	Enhancers	Fetal Intestine Small	intestine
39	chr1:78446000-78446800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:78446000-78446800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:78446000-78446800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:78446000-78446800	Enhancers	Colon Smooth Muscle	Colon
43	chr1:78446000-78446800	Weak transcription	Left Ventricle	heart
44	chr1:78446000-78446800	Weak transcription	Lung	lung
45	chr1:78446000-78447000	Weak transcription	Ovary	ovary
46	chr1:78446000-78447000	Weak transcription	Pancreas	Pancrea
47	chr1:78446000-78447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:78446000-78447200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:78446000-78447200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:78446000-78447200	Enhancers	Liver	Liver

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