Variant report

Variant	rs2541125
Chromosome Location	chr12:11818827-11818828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11806163..11809108-chr12:11816910..11819098,2	MCF-7	breast:
2	chr12:11818730..11821682-chr12:11929813..11932777,2	MCF-7	breast:
3	chr12:11802325..11804021-chr12:11817009..11819033,2	K562	blood:
4	chr12:11814416..11816234-chr12:11817623..11820133,2	MCF-7	breast:
5	chr12:11801381..11803825-chr12:11814827..11819033,3	K562	blood:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs205530	0.80[AMR][1000 genomes]
rs2541114	0.84[EUR][1000 genomes]
rs2541127	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541128	0.88[AFR][1000 genomes]
rs2856303	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959231	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2541125	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11806600-11819200	Weak transcription	NHLF	lung
2	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
3	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
5	chr12:11812200-11819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:11812200-11832600	Weak transcription	A549	lung
7	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:11812400-11819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:11812800-11821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:11813400-11820800	Enhancers	Left Ventricle	heart
14	chr12:11814200-11819000	Enhancers	Psoas Muscle	Psoas
15	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:11814800-11826600	Weak transcription	Osteobl	bone
17	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:11815000-11819000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:11815000-11819000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:11815000-11819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:11815000-11819000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:11815000-11819200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:11815000-11819200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:11815000-11820400	Enhancers	Fetal Muscle Leg	muscle
25	chr12:11815000-11825600	Weak transcription	Small Intestine	intestine
26	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:11815000-11836800	Weak transcription	NHEK	skin
28	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:11815200-11819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:11815200-11819000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:11815200-11821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
33	chr12:11815200-11837800	Weak transcription	NH-A	brain
34	chr12:11815400-11819000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:11815400-11819800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:11815400-11819800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:11815400-11825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:11816000-11819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:11816000-11819400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:11816200-11819400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:11816200-11820200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:11816200-11825200	Weak transcription	Primary T cells from cord blood	blood
44	chr12:11816400-11819000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:11816400-11820800	Weak transcription	Gastric	stomach
46	chr12:11816400-11821200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:11816400-11821600	Weak transcription	Liver	Liver
48	chr12:11816400-11825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:11816400-11825600	Weak transcription	Aorta	Aorta
50	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum

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