Variant report

Variant	rs61988219
Chromosome Location	chr14:67999219-67999220
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr14:67998920-68000747	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:67999209-68000799	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr14:67999109-68000837	MCF-7	breast:	n/a	chr14:67999440-67999454 chr14:67999439-67999453 chr14:67999442-67999456
4	MAX	chr14:67999211-67999529	NB4	blood:	n/a	chr14:67999232-67999242
5	ZNF263	chr14:67998962-68000967	HEK293-T-REx	kidney:	n/a	chr14:67999862-67999871
6	TCF7L2	chr14:67999213-68000256	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:67999140-67999290	GM12871	blood:	n/a	n/a
8	KAP1	chr14:67999135-68000436	HEK293	kidney:	n/a	n/a
9	JUND	chr14:67999179-68000127	MCF-7	breast:	n/a	chr14:67999962-67999971
10	POLR2A	chr14:67999153-67999283	K562	blood:	n/a	n/a
11	MXI1	chr14:67999050-67999248	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAZ	chr14:67999210-68000126	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67997332..67999745-chr14:68050873..68052714,2	MCF-7	breast:
2	chr14:67902911..67909562-chr14:67998675..68002742,8	MCF-7	breast:
3	chr14:67998392..68000379-chr14:68043032..68045856,2	MCF-7	breast:
4	chr14:67991794..67994856-chr14:67997202..67999536,4	K562	blood:
5	chr14:67998150..68002925-chr14:68034555..68041423,8	MCF-7	breast:
6	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
7	chr14:67999159..68000744-chr14:68160589..68162912,2	MCF-7	breast:
8	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:
9	chr14:67998411..68001693-chr14:68037282..68040664,3	K562	blood:
10	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
11	chr14:67998697..68001854-chr14:68041996..68045954,4	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000265993	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]
rs10483797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58939454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60799856	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988220	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67998200-67999400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:67998600-67999600	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr14:67998800-67999400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr14:67998800-67999400	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr14:67998800-67999400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:67998800-67999400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:67998800-67999400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:67998800-67999600	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr14:67999000-67999400	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr14:67999000-67999400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr14:67999000-67999400	Enhancers	Left Ventricle	heart
12	chr14:67999000-67999400	Enhancers	Right Atrium	heart
13	chr14:67999000-67999400	Flanking Active TSS	NHEK	skin
14	chr14:67999000-67999600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:67999000-67999600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr14:67999000-67999600	Active TSS	Brain Germinal Matrix	brain
17	chr14:67999000-67999600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr14:67999000-67999600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr14:67999000-67999600	Enhancers	Lung	lung
20	chr14:67999000-67999600	Enhancers	Stomach Mucosa	stomach
21	chr14:67999000-67999600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr14:67999000-67999600	Flanking Active TSS	Hela-S3	cervix
23	chr14:67999000-67999600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr14:67999000-67999800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:67999000-68000600	Active TSS	Colon Smooth Muscle	Colon
26	chr14:67999000-68000800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:67999000-68001200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:67999200-67999400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr14:67999200-67999400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:67999200-67999400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr14:67999200-67999400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:67999200-67999400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:67999200-67999400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:67999200-67999400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:67999200-67999400	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr14:67999200-67999400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr14:67999200-67999400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr14:67999200-67999400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr14:67999200-67999400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:67999200-67999400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:67999200-67999400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:67999200-67999400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:67999200-67999400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:67999200-67999400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:67999200-67999400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:67999200-67999400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:67999200-67999400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:67999200-67999400	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr14:67999200-67999400	Enhancers	Esophagus	oesophagus
50	chr14:67999200-67999400	Flanking Active TSS	Fetal Intestine Large	intestine

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