Variant report

Variant	rs61990085
Chromosome Location	chr14:68067727-68067728
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68067697-68067803	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
2	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:
3	chr14:68067332..68069387-chr14:68160866..68162653,2	MCF-7	breast:
4	chr14:68066197..68068186-chr17:66090683..66092203,2	MCF-7	breast:
5	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
6	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
7	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
8	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
9	chr14:68033912..68036171-chr14:68066958..68069605,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000201529	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000266117	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000072042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2236230	0.88[ASN][1000 genomes]
rs35108968	1.00[ASN][1000 genomes]
rs3809389	0.88[ASN][1000 genomes]
rs45571637	0.97[ASN][1000 genomes]
rs56785855	0.84[ASN][1000 genomes]
rs749269	0.94[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68065600-68067800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:68065800-68067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:68066200-68067800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68066400-68067800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:68066400-68067800	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:68067000-68068000	Flanking Active TSS	Dnd41	blood
7	chr14:68067400-68067800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr14:68067400-68067800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:68067400-68067800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:68067400-68067800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:68067400-68067800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr14:68067400-68067800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:68067400-68067800	Enhancers	Fetal Heart	heart
14	chr14:68067400-68067800	Enhancers	Hela-S3	cervix
15	chr14:68067400-68068000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:68067400-68068000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:68067400-68068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:68067400-68068000	Enhancers	Placenta	Placenta
19	chr14:68067400-68069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:68067400-68069400	Weak transcription	Fetal Kidney	kidney
21	chr14:68067400-68069800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:68067400-68069800	Weak transcription	Ovary	ovary
23	chr14:68067400-68070200	Weak transcription	Pancreas	Pancrea
24	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
25	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:68067600-68067800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:68067600-68067800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:68067600-68067800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:68067600-68067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68067600-68067800	Enhancers	Brain Hippocampus Middle	brain
33	chr14:68067600-68067800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr14:68067600-68067800	Enhancers	Fetal Muscle Leg	muscle
35	chr14:68067600-68067800	Enhancers	Fetal Thymus	thymus
36	chr14:68067600-68067800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:68067600-68067800	Active TSS	Stomach Smooth Muscle	stomach
38	chr14:68067600-68069600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:68067600-68069800	Weak transcription	HepG2	liver

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