Variant report

Variant	rs12435617
Chromosome Location	chr14:68747912-68747913
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68408216..68412729-chr14:68747829..68750873,4	MCF-7	breast:
2	chr14:68747190..68749471-chr14:68772017..68773815,2	MCF-7	breast:
3	chr14:68697764..68699372-chr14:68745653..68748495,2	MCF-7	breast:
4	chr14:68744987..68750260-chr14:69250111..69256950,7	MCF-7	breast:
5	chr14:68746874..68748839-chr14:68773271..68775923,2	MCF-7	breast:
6	chr14:68746918..68749020-chr14:69036355..69038421,2	MCF-7	breast:
7	chr14:68739540..68742303-chr14:68747560..68750666,4	MCF-7	breast:
8	chr14:68745338..68754336-chr14:69258355..69264353,12	MCF-7	breast:
9	chr14:68604826..68607033-chr14:68746486..68749072,2	MCF-7	breast:
10	chr14:68742486..68746272-chr14:68747119..68750722,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10146680	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11844086	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11848477	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs12323708	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12432392	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12432997	0.86[JPT][hapmap]
rs12433646	1.00[ASN][1000 genomes]
rs12434580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435229	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12436418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12437046	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17105291	0.94[ASN][1000 genomes]
rs17105407	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2104046	0.85[ASN][1000 genomes]
rs2331665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34186721	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34632606	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3784098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784103	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3784105	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4083474	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs4633645	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7151372	1.00[ASN][1000 genomes]
rs7151587	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs8016350	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs911256	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9323505	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs9944146	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12435617	ACTN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68729200-68749400	Weak transcription	Lung	lung
2	chr14:68731800-68749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:68739000-68750000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:68739200-68748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:68740000-68750200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68740000-68751600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:68742600-68749000	Weak transcription	Thymus	Thymus
8	chr14:68742600-68749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:68742600-68751800	Weak transcription	Stomach Mucosa	stomach
10	chr14:68742800-68749000	Weak transcription	Small Intestine	intestine
11	chr14:68743000-68748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:68743000-68749200	Weak transcription	Fetal Intestine Small	intestine
13	chr14:68743000-68749400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:68743200-68749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:68744000-68748400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:68744800-68751400	Enhancers	HepG2	liver
17	chr14:68745600-68749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68745600-68753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:68745800-68749200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:68745800-68749600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:68746000-68749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:68746000-68749400	Weak transcription	Spleen	Spleen
23	chr14:68746000-68749600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:68746000-68749600	Enhancers	Primary T cells from cord blood	blood
25	chr14:68746000-68749600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:68746000-68750000	Weak transcription	Pancreas	Pancrea
27	chr14:68746000-68751600	Weak transcription	HSMMtube	muscle
28	chr14:68746000-68752800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:68746000-68758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68746200-68749000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:68746200-68749000	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:68746200-68749000	Weak transcription	Fetal Intestine Large	intestine
33	chr14:68746200-68749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:68746200-68749200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:68746200-68749200	Weak transcription	Fetal Lung	lung
36	chr14:68746200-68749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:68746200-68749600	Weak transcription	Placenta	Placenta
38	chr14:68746200-68749800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:68746200-68750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:68746200-68750000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:68746200-68750000	Weak transcription	Brain Anterior Caudate	brain
42	chr14:68746200-68750000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:68746200-68750000	Weak transcription	Brain Substantia Nigra	brain
44	chr14:68746200-68750000	Weak transcription	Fetal Kidney	kidney
45	chr14:68746200-68751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:68746200-68751400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:68746200-68751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:68746200-68752000	Weak transcription	K562	blood
49	chr14:68746400-68749600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:68746600-68749400	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links