Variant report

Variant	rs61990084
Chromosome Location	chr14:68067556-68067557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68066410-68067657	HepG2	liver:	n/a	n/a
2	ELF1	chr14:68066510-68067604	GM12878	blood:	n/a	chr14:68067000-68067009

No data

(count:10 , 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	chr14:68052173..68055128-chr14:68065007..68067717,3	K562	blood:
5	chr14:68066197..68068186-chr17:66090683..66092203,2	MCF-7	breast:
6	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
7	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
8	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
9	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
10	chr14:68033912..68036171-chr14:68066958..68069605,2	MCF-7	breast:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129995	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588931	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45474396	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4899212	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990083	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61990086	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990087	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990109	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990110	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990111	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990112	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990113	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990114	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990115	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990116	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990117	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573785	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7146307	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010574	0.90[AMR][1000 genomes];0.81[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68065600-68067600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:68065600-68067800	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr14:68065800-68067600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:68065800-68067600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:68065800-68067600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:68065800-68067600	Active TSS	Colon Smooth Muscle	Colon
7	chr14:68065800-68067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:68066000-68067600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:68066000-68067600	Active TSS	Thymus	Thymus
10	chr14:68066200-68067600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr14:68066200-68067600	Active TSS	Brain Hippocampus Middle	brain
12	chr14:68066200-68067600	Active TSS	Colonic Mucosa	Colon
13	chr14:68066200-68067600	Active TSS	NHEK	skin
14	chr14:68066200-68067800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:68066400-68067600	Active TSS	Brain Angular Gyrus	brain
16	chr14:68066400-68067600	Active TSS	Brain Anterior Caudate	brain
17	chr14:68066400-68067800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:68066400-68067800	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:68066600-68067600	Active TSS	Brain Cingulate Gyrus	brain
20	chr14:68066600-68067600	Active TSS	Fetal Brain Female	brain
21	chr14:68067000-68068000	Flanking Active TSS	Dnd41	blood
22	chr14:68067200-68067600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr14:68067200-68067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:68067200-68067600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:68067200-68067600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:68067200-68067600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr14:68067200-68067600	Flanking Active TSS	Fetal Thymus	thymus
28	chr14:68067200-68067600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:68067200-68067600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:68067400-68067600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:68067400-68067600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:68067400-68067600	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:68067400-68067600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:68067400-68067600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:68067400-68067600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr14:68067400-68067600	Enhancers	Brain Substantia Nigra	brain
37	chr14:68067400-68067600	Enhancers	Esophagus	oesophagus
38	chr14:68067400-68067600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:68067400-68067600	Enhancers	Fetal Brain Male	brain
40	chr14:68067400-68067600	Enhancers	Fetal Intestine Small	intestine
41	chr14:68067400-68067600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr14:68067400-68067600	Enhancers	Fetal Stomach	stomach
43	chr14:68067400-68067600	Enhancers	Left Ventricle	heart
44	chr14:68067400-68067600	Enhancers	Lung	lung
45	chr14:68067400-68067600	Enhancers	Right Ventricle	heart
46	chr14:68067400-68067600	Enhancers	Spleen	Spleen
47	chr14:68067400-68067600	Enhancers	GM12878-XiMat	blood
48	chr14:68067400-68067600	Enhancers	HepG2	liver
49	chr14:68067400-68067600	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr14:68067400-68067800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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