Variant report

Variant	rs11625701
Chromosome Location	chr14:68040389-68040390
allele	C/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:6)
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	JUND	chr14:68040382-68040640	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67987540..67990251-chr14:68039422..68041358,2	K562	blood:
2	chr14:67998150..68002925-chr14:68034555..68041423,8	MCF-7	breast:
3	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
4	chr14:68038268..68041099-chr14:68047441..68049994,2	K562	blood:
5	chr14:67998411..68001693-chr14:68037282..68040664,3	K562	blood:
6	chr14:68040065..68042672-chr14:68048845..68051294,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17782224	0.82[AFR][1000 genomes]
rs2236232	0.84[EUR][1000 genomes]
rs36113087	0.87[EUR][1000 genomes]
rs4902489	0.94[EUR][1000 genomes]
rs4902493	0.92[EUR][1000 genomes]
rs4902495	0.88[EUR][1000 genomes]
rs7152499	0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11625701	PIGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
3	chr14:68005800-68042400	Weak transcription	NHEK	skin
4	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
5	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
11	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
13	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
14	chr14:68022800-68053000	Weak transcription	Lung	lung
15	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:68026600-68055200	Weak transcription	HMEC	breast
18	chr14:68027600-68045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:68029800-68042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:68030000-68040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:68030000-68041600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:68030000-68042200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:68030000-68042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:68030000-68044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:68030200-68041600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:68032600-68042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:68034000-68043800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:68034400-68043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:68034400-68052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:68034600-68043000	Weak transcription	Esophagus	oesophagus
31	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:68034800-68044800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:68034800-68047200	Weak transcription	Stomach Mucosa	stomach
34	chr14:68036800-68040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:68036800-68052400	Weak transcription	Fetal Thymus	thymus
36	chr14:68038200-68040400	Strong transcription	Brain Hippocampus Middle	brain
37	chr14:68038200-68040800	Genic enhancers	Fetal Intestine Small	intestine
38	chr14:68038400-68042200	Weak transcription	Colonic Mucosa	Colon
39	chr14:68038400-68052200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:68038400-68052400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68038600-68042400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr14:68039000-68040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:68039200-68043000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:68039200-68046000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:68039400-68040400	Enhancers	Pancreas	Pancrea
47	chr14:68039400-68040600	Enhancers	HepG2	liver
48	chr14:68039400-68044000	Strong transcription	Placenta	Placenta
49	chr14:68039400-68049000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:68039400-68049200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links