Variant report

Variant	rs34120878
Chromosome Location	chr4:494194-494195
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:493910-494251	GM12878	blood:	n/a	n/a
2	MXI1	chr4:491938-494369	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:492403-494248	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:492635-494215	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:494034-494194	K562	blood:	n/a	n/a
6	POLR2A	chr4:492533-494375	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:491399..494814-chr4:670516..673656,5	K562	blood:
2	chr4:492402..494573-chr4:519745..521471,2	MCF-7	breast:
3	chr4:491975..494600-chr4:528822..530647,2	MCF-7	breast:
4	chr4:492225..494704-chr4:519921..521434,2	K562	blood:
5	chr4:467472..470857-chr4:492460..494562,4	MCF-7	breast:
6	chr4:493496..496424-chr4:496534..498513,2	MCF-7	breast:
7	chr4:492039..494429-chr4:524066..526166,2	MCF-7	breast:
8	chr4:493072..496177-chr4:508177..512023,3	MCF-7	breast:
9	chr4:466543..469725-chr4:491364..494746,6	K562	blood:
10	chr4:493062..494777-chr4:668037..670861,2	MCF-7	breast:
11	chr4:467570..470736-chr4:492094..494500,4	K562	blood:
12	chr4:465426..468979-chr4:491875..494822,5	MCF-7	breast:
13	chr4:493744..499975-chr4:504792..509084,10	K562	blood:

No data

Variant related genes	Relation type
ZNF721	TF binding region
ENSG00000215375	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000182903	Chromatin interaction
ENSG00000251595	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56819697	1.00[AMR][1000 genomes]
rs57122804	1.00[AMR][1000 genomes]
rs57823756	1.00[AMR][1000 genomes]
rs61321212	1.00[AMR][1000 genomes]
rs61656126	1.00[AMR][1000 genomes]
rs73056524	1.00[AMR][1000 genomes]
rs73056539	1.00[AMR][1000 genomes]
rs73056540	1.00[AMR][1000 genomes]
rs73056541	1.00[AMR][1000 genomes]
rs73074227	1.00[AMR][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	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:492000-494200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:492000-494200	Active TSS	A549	lung
3	chr4:492000-494400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:492000-494400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:492000-494400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:492000-494400	Active TSS	HSMMtube	muscle
7	chr4:492200-494200	Active TSS	Fetal Intestine Large	intestine
8	chr4:493200-494400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr4:493400-494200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr4:493400-494200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr4:493400-494200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:493400-494200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr4:493400-494200	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr4:493400-494200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr4:493400-494200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr4:493400-494200	Flanking Active TSS	Fetal Brain Male	brain
17	chr4:493400-494200	Flanking Active TSS	Fetal Stomach	stomach
18	chr4:493400-494200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr4:493400-494200	Flanking Active TSS	HUVEC	blood vessel
20	chr4:493400-494200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:493400-494400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:493400-494400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:493400-494400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr4:493400-494400	Flanking Active TSS	Fetal Lung	lung
25	chr4:493400-494600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:493600-494200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:493600-494200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:493600-494200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr4:493600-494200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr4:493600-494200	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:493600-494200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr4:493600-494200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr4:493600-494200	Flanking Active TSS	HSMM	muscle
34	chr4:493600-494200	Flanking Active TSS	K562	blood
35	chr4:493600-494200	Flanking Active TSS	Osteobl	bone
36	chr4:493600-494400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:493600-494400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:493600-494400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:493600-494400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:493600-494400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:493600-494400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr4:493600-494400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:493600-494400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr4:493600-494400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:493600-494400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:493600-494400	Flanking Active TSS	GM12878-XiMat	blood
47	chr4:493600-494400	Flanking Active TSS	Hela-S3	cervix
48	chr4:493600-494600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:493600-520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:493800-494200	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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