Variant report

Variant	rs2541143
Chromosome Location	chr12:11841149-11841150
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11839323..11841755-chr12:11878975..11881262,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17817634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1861482	0.91[JPT][hapmap]
rs205528	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111048	0.82[JPT][hapmap]
rs2111049	0.91[JPT][hapmap]
rs2541113	0.82[JPT][hapmap]
rs2541128	0.91[JPT][hapmap]
rs2724590	0.91[JPT][hapmap]
rs2724626	0.84[JPT][hapmap]
rs2856313	0.91[JPT][hapmap]

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
rs2541143	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:11822000-11850000	Weak transcription	HMEC	breast
3	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:11827800-11851800	Weak transcription	Ovary	ovary
7	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
8	chr12:11831000-11842600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:11831000-11848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:11831200-11847200	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:11831400-11845600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:11831800-11841600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:11832600-11848200	Weak transcription	HSMMtube	muscle
15	chr12:11834000-11841200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:11834400-11842800	Weak transcription	HSMM	muscle
17	chr12:11835600-11847000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:11835800-11842000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:11835800-11842200	Enhancers	Colon Smooth Muscle	Colon
20	chr12:11836000-11842000	Enhancers	Stomach Mucosa	stomach
21	chr12:11836600-11841200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:11836800-11842400	Enhancers	Adipose Nuclei	Adipose
23	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
24	chr12:11837400-11843600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:11838000-11841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:11838000-11850000	Weak transcription	HUVEC	blood vessel
27	chr12:11838000-11850400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:11838200-11841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:11838200-11841200	Weak transcription	Osteobl	bone
31	chr12:11838200-11846600	Weak transcription	Esophagus	oesophagus
32	chr12:11838200-11848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:11838400-11841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:11838400-11844000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:11838400-11844800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:11838400-11848000	Weak transcription	Primary B cells from cord blood	blood
37	chr12:11838400-11848000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:11838400-11854200	Weak transcription	Fetal Heart	heart
39	chr12:11838600-11848000	Weak transcription	NH-A	brain
40	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
41	chr12:11839000-11841200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:11839000-11842000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:11839200-11841800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:11839200-11842600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:11839200-11843000	Enhancers	Fetal Stomach	stomach
46	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:11839400-11841200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:11839400-11841400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:11839400-11841600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:11839400-11841600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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