Variant report

Variant	rs8007557
Chromosome Location	chr14:68148237-68148238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68044795..68046868-chr14:68146625..68149347,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68086139..68088199-chr14:68146994..68148776,2	K562	blood:
4	chr14:68145632..68149013-chr14:68158288..68160093,3	K562	blood:
5	chr14:68147331..68150030-chr14:68153544..68156182,3	K562	blood:
6	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:
7	chr14:67826402..67828235-chr14:68147620..68149671,2	K562	blood:
8	chr14:68147451..68151816-chr14:68155082..68158211,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000258466	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12147055	0.94[EUR][1000 genomes]
rs12147616	0.94[EUR][1000 genomes]
rs12879877	0.90[EUR][1000 genomes]
rs12880440	0.94[EUR][1000 genomes]
rs12881351	0.94[EUR][1000 genomes]
rs12881994	0.85[EUR][1000 genomes]
rs12882315	0.94[EUR][1000 genomes]
rs12882423	0.82[EUR][1000 genomes]
rs12882561	0.85[EUR][1000 genomes]
rs12882897	0.83[EUR][1000 genomes]
rs12884644	0.94[EUR][1000 genomes]
rs12884764	0.94[EUR][1000 genomes]
rs12884807	0.86[EUR][1000 genomes]
rs12886140	0.80[EUR][1000 genomes]
rs12887092	0.92[EUR][1000 genomes]
rs12888119	0.87[EUR][1000 genomes]
rs12889011	0.94[EUR][1000 genomes]
rs12889276	0.82[EUR][1000 genomes]
rs12889527	0.92[EUR][1000 genomes]
rs12890397	0.89[EUR][1000 genomes]
rs12892204	0.83[EUR][1000 genomes]
rs12892919	0.94[EUR][1000 genomes]
rs12893115	0.82[EUR][1000 genomes]
rs12893900	0.94[EUR][1000 genomes]
rs12893907	0.94[EUR][1000 genomes]
rs12894707	0.89[EUR][1000 genomes]
rs12895014	0.92[EUR][1000 genomes]
rs12895217	0.92[EUR][1000 genomes]
rs12896052	0.84[EUR][1000 genomes]
rs12898042	0.94[EUR][1000 genomes]
rs17249649	0.94[EUR][1000 genomes]
rs2273160	0.94[EUR][1000 genomes]
rs34970739	0.86[EUR][1000 genomes]
rs3759762	0.94[EUR][1000 genomes]
rs7147925	0.84[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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
6	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
8	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
9	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
13	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
14	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
18	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
19	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
23	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
28	chr14:68143400-68159600	Strong transcription	Dnd41	blood
29	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
34	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:68144200-68148800	Strong transcription	Fetal Lung	lung
36	chr14:68144200-68150400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:68144200-68158400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:68144200-68159400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68144200-68159600	Strong transcription	HepG2	liver
40	chr14:68144200-68159800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:68144200-68160000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr14:68144200-68160000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:68144200-68160000	Strong transcription	Primary T cells from cord blood	blood
44	chr14:68144200-68160200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:68144200-68160400	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:68144200-68160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:68144600-68160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68144800-68159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:68144800-68159800	Strong transcription	Liver	Liver
50	chr14:68145200-68148600	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links