Variant report

Variant	rs10141243
Chromosome Location	chr14:39569792-39569793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39569747-39569860	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39569453..39572073-chr14:39590270..39592529,2	K562	blood:
2	chr14:39565825..39569831-chr14:39570410..39572349,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258651	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12164875	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12894046	0.82[EUR][1000 genomes]
rs12895751	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34673321	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs532	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10141243	SIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:39554800-39571600	Weak transcription	K562	blood
3	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39558800-39571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:39560200-39569800	Weak transcription	Pancreas	Pancrea
6	chr14:39560200-39571000	Weak transcription	Aorta	Aorta
7	chr14:39560400-39571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:39560400-39571600	Weak transcription	Esophagus	oesophagus
9	chr14:39560400-39571600	Weak transcription	Gastric	stomach
10	chr14:39561000-39570600	Weak transcription	Lung	lung
11	chr14:39561000-39571200	Weak transcription	Colonic Mucosa	Colon
12	chr14:39561000-39571400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:39561000-39571400	Weak transcription	Psoas Muscle	Psoas
14	chr14:39561600-39571200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:39561600-39571400	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:39561600-39571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:39563400-39571600	Weak transcription	Thymus	Thymus
18	chr14:39564000-39571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:39564400-39570400	Weak transcription	Fetal Brain Female	brain
20	chr14:39564400-39571000	Weak transcription	Brain Angular Gyrus	brain
21	chr14:39564400-39571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:39564400-39571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:39564600-39571000	Weak transcription	HSMMtube	muscle
24	chr14:39564600-39571400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:39564800-39571000	Weak transcription	Brain Substantia Nigra	brain
26	chr14:39564800-39571200	Weak transcription	Fetal Thymus	thymus
27	chr14:39564800-39571200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:39564800-39571200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:39564800-39571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:39565000-39571000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:39565000-39571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:39565000-39571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:39565000-39571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:39565200-39570800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:39565200-39570800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:39565200-39571000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:39565200-39571000	Weak transcription	HSMM	muscle
38	chr14:39565400-39569800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:39565400-39570000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:39565400-39571000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:39565400-39571000	Weak transcription	NHLF	lung
42	chr14:39565400-39571200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:39565400-39571200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:39565400-39571200	Weak transcription	NHDF-Ad	bronchial
45	chr14:39565400-39571400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:39565400-39571400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:39565400-39571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:39565400-39571400	Weak transcription	Fetal Kidney	kidney
49	chr14:39565400-39571400	Weak transcription	Placenta	Placenta
50	chr14:39565400-39571400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links