Variant report

Variant	rs556906830
Chromosome Location	chr14:70690321-70690322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70690233-70690690	K562	blood:	n/a	n/a
2	CEBPB	chr14:70690174-70690468	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:70689985-70690724	K562	blood:	n/a	n/a
4	POLR2A	chr14:70690240-70690650	K562	blood:	n/a	n/a
5	CEBPB	chr14:70690188-70690384	A549	lung:	n/a	n/a
6	TBP	chr14:70690042-70690705	K562	blood:	n/a	n/a
7	ELF1	chr14:70690229-70690741	K562	blood:	n/a	n/a
8	JUND	chr14:70690299-70690804	K562	blood:	n/a	n/a
9	GABPA	chr14:70690281-70690690	K562	blood:	n/a	n/a
10	POLR2A	chr14:70690250-70690790	PBDE	blood:	n/a	n/a
11	CEBPB	chr14:70690311-70690379	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF384	chr14:70690001-70690522	GM12878	blood:	n/a	n/a
13	ZNF143	chr14:70690288-70690710	K562	blood:	n/a	n/a
14	TBL1XR1	chr14:70690245-70690443	K562	blood:	n/a	n/a
15	GTF2F1	chr14:70690318-70690518	K562	blood:	n/a	n/a
16	MYC	chr14:70689995-70690804	K562	blood:	n/a	n/a
17	CEBPB	chr14:70690132-70690487	K562	blood:	n/a	n/a
18	HCFC1	chr14:70690287-70690679	K562	blood:	n/a	n/a
19	UBTF	chr14:70690288-70690684	K562	blood:	n/a	n/a
20	IRF1	chr14:70690095-70690693	K562	blood:	n/a	n/a
21	POLR2A	chr14:70689886-70690682	K562	blood:	n/a	n/a
22	EP300	chr14:70690232-70690860	K562	blood:	n/a	n/a
23	RCOR1	chr14:70689971-70690808	K562	blood:	n/a	n/a
24	BHLHE40	chr14:70690031-70690525	K562	blood:	n/a	n/a
25	ZBTB7A	chr14:70690316-70690706	K562	blood:	n/a	n/a
26	HEY1	chr14:70690234-70690602	K562	blood:	n/a	n/a
27	ZMIZ1	chr14:70690281-70690780	K562	blood:	n/a	n/a
28	GABPA	chr14:70690316-70690697	K562	blood:	n/a	n/a
29	TAF1	chr14:70690245-70690462	K562	blood:	n/a	n/a
30	MYC	chr14:70690245-70690927	K562	blood:	n/a	n/a
31	POLR2A	chr14:70689931-70690743	GM19099	blood:	n/a	n/a
32	POLR2A	chr14:70689998-70690697	K562	blood:	n/a	n/a
33	CTCF	chr14:70690271-70690824	K562	blood:	n/a	n/a
34	ZNF384	chr14:70689874-70690880	K562	blood:	n/a	n/a
35	ZNF263	chr14:70690266-70690700	HEK293-T-REx	kidney:	n/a	n/a
36	MAZ	chr14:70690265-70690812	K562	blood:	n/a	n/a
37	TBL1XR1	chr14:70690258-70690444	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000258422	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3516672	chr14:70686699-70690597	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3516666	chr14:70687049-70690447	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv565021	chr14:70688130-70690877	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv565030	chr14:70688352-70690877	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv3345682	chr14:70689349-70691247	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv3506856	chr14:70689958-70690350	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
9	esv3506854	chr14:70689969-70690333	Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
10	esv3294	chr14:70690021-70690352	Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:70689600-70690800	Active TSS	K562	blood
3	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70689800-70690600	Active TSS	Primary hematopoietic stem cells	blood
5	chr14:70689800-70690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:70689800-70690800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:70690000-70690600	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:70690000-70690600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:70690000-70690600	Active TSS	HSMM	muscle
10	chr14:70690000-70690600	Active TSS	NH-A	brain
11	chr14:70690000-70690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:70690000-70691000	Active TSS	HSMMtube	muscle
13	chr14:70690200-70690400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr14:70690200-70690400	Active TSS	Placenta	Placenta
15	chr14:70690200-70690400	Bivalent/Poised TSS	Left Ventricle	heart
16	chr14:70690200-70690400	Active TSS	GM12878-XiMat	blood
17	chr14:70690200-70690600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:70690200-70690600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:70690200-70690600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:70690200-70690600	Active TSS	Brain Cingulate Gyrus	brain
21	chr14:70690200-70690600	Active TSS	Duodenum Mucosa	Duodenum
22	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chr14:70690200-70690600	Active TSS	Fetal Thymus	thymus
25	chr14:70690200-70690600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr14:70690200-70690600	Bivalent/Poised TSS	NHEK	skin
27	chr14:70690200-70690800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:70690200-70690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70690200-70690800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:70690200-70690800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70690200-70690800	Active TSS	Adipose Nuclei	Adipose
32	chr14:70690200-70690800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:70690200-70690800	Active TSS	Fetal Stomach	stomach
34	chr14:70690200-70690800	Active TSS	Psoas Muscle	Psoas
35	chr14:70690200-70690800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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