Variant report

Variant	rs61170483
Chromosome Location	chr14:39645630-39645631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr14:39643485-39645701	IMR90	lung:	n/a	chr14:39644663-39644673
2	POLR2A	chr14:39642960-39651251	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFIC	chr14:39643501-39645806	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39643051-39648902	HepG2	liver:	n/a	n/a
5	CHD1	chr14:39643798-39646129	H1-hESC	embryonic stem cell:	n/a	chr14:39644663-39644673
6	POLR2A	chr14:39643266-39645854	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:39645593-39647104	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr14:39643261-39648811	K562	blood:	n/a	n/a
9	SREBP1	chr14:39643578-39645901	GM12878	blood:	n/a	n/a
10	MBD4	chr14:39643296-39645794	HepG2	liver:	n/a	n/a
11	MBD4	chr14:39643120-39646667	HepG2	liver:	n/a	n/a
12	MYBL2	chr14:39643271-39645673	HepG2	liver:	n/a	n/a
13	TEAD4	chr14:39643084-39646101	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:39645594-39647030	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643409..39646477-chr14:39682252..39685201,4	MCF-7	breast:
4	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
5	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259083	TF binding region
PNN	TF binding region
ENSG00000165355	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000270503	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1474875	1.00[AMR][1000 genomes]
rs1555260	1.00[AMR][1000 genomes]
rs17092058	1.00[AMR][1000 genomes]
rs17108852	1.00[AMR][1000 genomes]
rs17108884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108885	1.00[AMR][1000 genomes]
rs17108891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108905	1.00[AMR][1000 genomes]
rs17108939	1.00[AMR][1000 genomes]
rs17108946	1.00[AMR][1000 genomes]
rs41407745	1.00[AMR][1000 genomes]
rs58634862	1.00[AMR][1000 genomes]
rs59099504	1.00[AMR][1000 genomes]
rs59245613	1.00[AMR][1000 genomes]
rs59671146	1.00[AMR][1000 genomes]
rs59884790	1.00[AMR][1000 genomes]
rs60224924	1.00[AMR][1000 genomes]
rs60746390	1.00[AMR][1000 genomes]
rs6571899	1.00[AMR][1000 genomes]
rs7144933	1.00[AMR][1000 genomes]
rs7145653	1.00[AMR][1000 genomes]
rs7145677	1.00[AMR][1000 genomes]
rs7145969	1.00[AMR][1000 genomes]
rs7150364	1.00[AMR][1000 genomes]
rs8007188	1.00[AMR][1000 genomes]
rs8009864	1.00[AMR][1000 genomes]
rs8010386	1.00[AMR][1000 genomes]
rs8016435	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr14:39643400-39645800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:39643600-39645800	Active TSS	Fetal Brain Female	brain
3	chr14:39643600-39645800	Active TSS	Psoas Muscle	Psoas
4	chr14:39643600-39645800	Active TSS	Right Ventricle	heart
5	chr14:39643600-39645800	Active TSS	K562	blood
6	chr14:39643600-39646000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:39643600-39646000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr14:39643800-39645800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:39643800-39646000	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr14:39643800-39646200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39643800-39646600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:39644400-39646200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
13	chr14:39644400-39646200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
14	chr14:39644600-39645800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr14:39644800-39645800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr14:39644800-39645800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr14:39644800-39645800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr14:39644800-39645800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:39644800-39646400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:39644800-39646600	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr14:39645000-39645800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:39645000-39645800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:39645000-39645800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr14:39645000-39645800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr14:39645000-39645800	Active TSS	Right Atrium	heart
26	chr14:39645000-39645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr14:39645000-39646400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr14:39645000-39646400	Transcr. at gene 5' and 3'	A549	lung
29	chr14:39645200-39645800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
30	chr14:39645200-39645800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr14:39645200-39645800	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr14:39645200-39645800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr14:39645200-39645800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:39645200-39645800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:39645200-39645800	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr14:39645200-39646000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:39645200-39646200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:39645200-39646200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:39645200-39646200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
40	chr14:39645200-39646200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:39645200-39646200	Weak transcription	Spleen	Spleen
42	chr14:39645200-39646200	Transcr. at gene 5' and 3'	HMEC	breast
43	chr14:39645200-39646400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
44	chr14:39645200-39646400	Transcr. at gene 5' and 3'	NH-A	brain
45	chr14:39645200-39646600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
46	chr14:39645200-39646800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
47	chr14:39645200-39647000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
48	chr14:39645200-39647200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:39645400-39645800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:39645400-39645800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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