Variant report

Variant	rs6037165
Chromosome Location	chr20:25605759-25605760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:25605696-25607611	SK-N-MC	brain:	n/a	n/a
2	HEY1	chr20:25605730-25606685	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:25605609-25605894	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr20:25605641-25605900	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr20:25603912-25606817	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr20:25603845-25607875	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr20:25605709-25605790	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr20:25605729-25607717	HepG2	liver:	n/a	n/a
9	POLR2A	chr20:25602890-25606578	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25563758..25567670-chr20:25600746..25606260,10	MCF-7	breast:
2	chr20:25604862..25606415-chr20:25633775..25635785,2	MCF-7	breast:
3	chr20:25590781..25592605-chr20:25602144..25606440,3	MCF-7	breast:
4	chr20:25603699..25606216-chr20:25676779..25679090,3	MCF-7	breast:
5	chr20:25564265..25567754-chr20:25602950..25606854,10	MCF-7	breast:
6	chr20:25474956..25477524-chr20:25604184..25606432,2	MCF-7	breast:
7	chr20:25601566..25607773-chr20:25608657..25615631,12	MCF-7	breast:
8	chr20:25604068..25607059-chr20:25675582..25678596,4	MCF-7	breast:
9	chr20:25571499..25573188-chr20:25604906..25607655,2	K562	blood:
10	chr20:25602422..25607796-chr20:25675112..25679388,9	K562	blood:
11	chr20:25475529..25477645-chr20:25603569..25606189,3	MCF-7	breast:
12	chr20:25604700..25606724-chr20:25650561..25652560,2	MCF-7	breast:
13	chr20:25604858..25606778-chr20:25612734..25614672,2	MCF-7	breast:
14	chr20:25591410..25597359-chr20:25600309..25606040,12	K562	blood:
15	chr20:25603625..25606406-chr20:25665177..25670447,5	MCF-7	breast:
16	chr20:25602965..25606226-chr20:25676160..25678613,3	K562	blood:

No data

Variant related genes	Relation type
NANP	TF binding region
ENSG00000242236	Chromatin interaction
ENSG00000130684	Chromatin interaction
ENSG00000101004	Chromatin interaction
ENSG00000251883	Chromatin interaction
ENSG00000236542	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6050683	0.90[AFR][1000 genomes]
rs6050706	1.00[AFR][1000 genomes]
rs6050713	1.00[AFR][1000 genomes]
rs6050731	1.00[AFR][1000 genomes]
rs6050734	1.00[AFR][1000 genomes]
rs6050744	1.00[AFR][1000 genomes]
rs6050746	1.00[AFR][1000 genomes]
rs7269933	0.90[AFR][1000 genomes]
rs73597825	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25603000-25606000	Active TSS	K562	blood
2	chr20:25603200-25605800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:25603400-25606600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:25603600-25605800	Active TSS	Hela-S3	cervix
5	chr20:25603600-25606200	Active TSS	A549	lung
6	chr20:25604000-25605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr20:25604600-25605800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:25605000-25606000	Flanking Active TSS	Dnd41	blood
9	chr20:25605400-25605800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:25605400-25606000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:25605400-25606000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:25605400-25606000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr20:25605400-25616800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:25605400-25628600	Weak transcription	Left Ventricle	heart
15	chr20:25605400-25630400	Weak transcription	Aorta	Aorta
16	chr20:25605600-25605800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:25605600-25605800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:25605600-25605800	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:25605600-25605800	Enhancers	Pancreas	Pancrea
20	chr20:25605600-25605800	Active TSS	Stomach Smooth Muscle	stomach
21	chr20:25605600-25605800	Active TSS	HepG2	liver
22	chr20:25605600-25606000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:25605600-25606000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr20:25605600-25606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:25605600-25606200	Enhancers	Fetal Muscle Leg	muscle
26	chr20:25605600-25606200	Enhancers	GM12878-XiMat	blood
27	chr20:25605600-25606400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr20:25605600-25606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr20:25605600-25606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:25605600-25606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr20:25605600-25607400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr20:25605600-25608400	Weak transcription	Right Atrium	heart
33	chr20:25605600-25610000	Weak transcription	HSMMtube	muscle
34	chr20:25605600-25610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr20:25605600-25610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr20:25605600-25613000	Weak transcription	NHEK	skin
37	chr20:25605600-25615000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:25605600-25615000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr20:25605600-25615000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:25605600-25615200	Weak transcription	Adipose Nuclei	Adipose
41	chr20:25605600-25615200	Weak transcription	Brain Anterior Caudate	brain
42	chr20:25605600-25616000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr20:25605600-25616400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr20:25605600-25616400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:25605600-25616400	Weak transcription	Thymus	Thymus
46	chr20:25605600-25616600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:25605600-25616600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr20:25605600-25616800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:25605600-25616800	Weak transcription	Primary T cells from cord blood	blood
50	chr20:25605600-25616800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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