Variant report

Variant	rs7146225
Chromosome Location	chr14:69421378-69421379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69417161..69420849-chr14:69420995..69424800,5	MCF-7	breast:
3	chr14:69419790..69422390-chr14:69443339..69445972,2	K562	blood:
4	chr14:69420750..69423419-chr14:69434981..69437135,2	K562	blood:
5	chr14:69382974..69384922-chr14:69421020..69423928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12432970	0.85[JPT][hapmap]
rs12434478	0.85[JPT][hapmap]
rs17093668	0.85[JPT][hapmap]
rs2024892	0.84[JPT][hapmap]
rs2024893	0.85[JPT][hapmap]
rs2268968	0.85[JPT][hapmap]
rs4902682	0.85[JPT][hapmap]
rs8015876	0.85[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7146225	TSPY3	trans	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69394200-69422200	Weak transcription	Dnd41	blood
2	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr14:69402200-69425200	Enhancers	Right Atrium	heart
5	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
6	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
9	chr14:69413400-69423800	Enhancers	HUVEC	blood vessel
10	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:69415200-69423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:69416400-69422200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:69416400-69423200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:69418000-69422000	Weak transcription	Thymus	Thymus
16	chr14:69418200-69424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:69418400-69424600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:69418600-69424000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:69418800-69423400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:69418800-69424000	Weak transcription	Primary B cells from cord blood	blood
21	chr14:69419000-69421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:69419000-69423400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr14:69419200-69422200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:69419200-69423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:69419600-69421800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:69419800-69421800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:69419800-69421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:69419800-69421800	Enhancers	Fetal Stomach	stomach
29	chr14:69419800-69423600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:69420000-69421400	Weak transcription	Stomach Mucosa	stomach
31	chr14:69420200-69421400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:69420200-69421400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:69420200-69421400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:69420200-69421400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:69420200-69421400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:69420200-69421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69420200-69421600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:69420200-69421600	Weak transcription	Liver	Liver
39	chr14:69420200-69421600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:69420200-69421600	Enhancers	Colon Smooth Muscle	Colon
41	chr14:69420200-69421600	Weak transcription	Psoas Muscle	Psoas
42	chr14:69420200-69421600	Weak transcription	Spleen	Spleen
43	chr14:69420200-69421800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:69420200-69421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:69420200-69421800	Weak transcription	Colonic Mucosa	Colon
46	chr14:69420200-69421800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:69420200-69421800	Weak transcription	Fetal Thymus	thymus
48	chr14:69420200-69421800	Enhancers	A549	lung
49	chr14:69420200-69421800	Weak transcription	Hela-S3	cervix
50	chr14:69420200-69421800	Enhancers	NHLF	lung

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