Variant report

Variant	rs2541115
Chromosome Location	chr12:11831509-11831510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11826428..11828100-chr12:11830041..11832923,3	K562	blood:
2	chr12:11826577..11828100-chr12:11830041..11832923,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1861482	0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2111049	0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2541128	0.80[CEU][hapmap];0.81[MEX][hapmap]
rs2724590	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs2724626	0.83[EUR][1000 genomes]
rs2856313	0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6488442	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488443	0.90[EUR][1000 genomes];0.88[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2541115	RIMKLB	cis	cerebellum	SCAN
rs2541115	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11815000-11836800	Weak transcription	NHEK	skin
4	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
6	chr12:11815200-11837800	Weak transcription	NH-A	brain
7	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11822000-11850000	Weak transcription	HMEC	breast
9	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:11826200-11839200	Weak transcription	HepG2	liver
16	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:11827400-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:11827600-11832200	Weak transcription	HSMMtube	muscle
20	chr12:11827800-11851800	Weak transcription	Ovary	ovary
21	chr12:11828000-11833800	Weak transcription	HSMM	muscle
22	chr12:11828000-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:11828000-11836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:11828000-11837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:11828600-11832600	Strong transcription	Primary B cells from cord blood	blood
26	chr12:11828600-11833600	Enhancers	Fetal Heart	heart
27	chr12:11828800-11831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:11828800-11832400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:11828800-11836600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:11829000-11832000	Strong transcription	Dnd41	blood
31	chr12:11829000-11834200	Genic enhancers	Fetal Thymus	thymus
32	chr12:11829200-11837800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:11829400-11833400	Weak transcription	Osteobl	bone
34	chr12:11829400-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:11829400-11837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:11829400-11840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:11829400-11840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
39	chr12:11829600-11831600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:11829600-11835200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:11829600-11835800	Weak transcription	Fetal Intestine Large	intestine
42	chr12:11829600-11837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:11829600-11837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:11829600-11837800	Weak transcription	Right Atrium	heart
45	chr12:11829600-11838000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:11829600-11839600	Weak transcription	Placenta	Placenta
47	chr12:11829800-11831600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:11829800-11835800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:11829800-11837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:11829800-11839200	Weak transcription	Fetal Stomach	stomach

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