Variant report

Variant	rs3818251
Chromosome Location	chr14:24882373-24882374
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	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
2	chr14:24801703..24804412-chr14:24880486..24883068,2	MCF-7	breast:
3	chr14:24864677..24868980-chr14:24879607..24883296,4	MCF-7	breast:
4	chr14:24834871..24836574-chr14:24881595..24883605,2	MCF-7	breast:
5	chr14:24871124..24874690-chr14:24881878..24884202,3	K562	blood:
6	chr14:24881970..24885002-chr14:24899084..24901758,4	K562	blood:
7	chr14:24787702..24789711-chr14:24881915..24883452,2	K562	blood:
8	chr14:24664420..24666699-chr14:24881559..24884040,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205978	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000129467	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10146609	0.85[CHB][hapmap];0.84[JPT][hapmap]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3818251	MYH7	cis	cerebellum	SCAN
rs3818251	NRL	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24869000-24883000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24869400-24887800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24869600-24885800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:24869800-24882800	Weak transcription	Fetal Heart	heart
5	chr14:24869800-24884800	Weak transcription	Brain Anterior Caudate	brain
6	chr14:24869800-24887600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:24870800-24890600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:24871800-24891600	Weak transcription	Fetal Thymus	thymus
9	chr14:24872600-24883800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:24872800-24886200	Weak transcription	Pancreas	Pancrea
11	chr14:24873000-24887200	Weak transcription	NHEK	skin
12	chr14:24873200-24887800	Weak transcription	Osteobl	bone
13	chr14:24874000-24882600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:24874000-24882800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:24874000-24886400	Strong transcription	Fetal Intestine Large	intestine
16	chr14:24874000-24886600	Strong transcription	Fetal Intestine Small	intestine
17	chr14:24874000-24887200	Weak transcription	Right Atrium	heart
18	chr14:24874200-24883800	Weak transcription	NHLF	lung
19	chr14:24874400-24885400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:24874400-24886800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:24874400-24886800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:24874400-24887800	Weak transcription	NHDF-Ad	bronchial
23	chr14:24874600-24882600	Weak transcription	HUVEC	blood vessel
24	chr14:24875000-24883600	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr14:24875600-24885800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:24875800-24885400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:24876200-24884600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:24876400-24883200	Weak transcription	Gastric	stomach
29	chr14:24876400-24886400	Weak transcription	Stomach Mucosa	stomach
30	chr14:24876600-24885000	Strong transcription	Right Ventricle	heart
31	chr14:24876800-24886000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:24877000-24884200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:24877000-24885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:24877000-24885400	Strong transcription	Adipose Nuclei	Adipose
35	chr14:24877000-24886200	Strong transcription	Fetal Brain Female	brain
36	chr14:24877200-24887400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:24877800-24884600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr14:24878000-24886600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:24878200-24883000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:24878400-24882400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:24878400-24886200	Strong transcription	Brain Germinal Matrix	brain
42	chr14:24878800-24884600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:24878800-24885000	Weak transcription	Brain Substantia Nigra	brain
44	chr14:24878800-24885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:24879000-24883200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:24879200-24885000	Strong transcription	Ovary	ovary
47	chr14:24879200-24885600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:24879400-24885000	Strong transcription	Fetal Muscle Leg	muscle
49	chr14:24879400-24885600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:24880000-24884000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links