Variant report

Variant	rs2541127
Chromosome Location	chr12:11816811-11816812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11815851..11817515-chr12:11821164..11823181,2	MCF-7	breast:
2	chr12:11812795..11814731-chr12:11815428..11817529,2	K562	blood:
3	chr12:11801381..11803825-chr12:11814827..11819033,3	K562	blood:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11054413	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs16907060	0.87[EUR][1000 genomes]
rs1861482	0.91[CHB][hapmap]
rs2111048	1.00[CHB][hapmap]
rs2111049	0.91[CHB][hapmap]
rs2541113	1.00[CHB][hapmap]
rs2541122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2541125	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541128	0.91[CHB][hapmap]
rs2541129	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2724590	0.91[CHB][hapmap]
rs2724626	0.91[CHB][hapmap]
rs2724649	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2856303	0.81[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856308	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2856309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2856310	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2856311	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2856313	0.91[CHB][hapmap]
rs2856315	0.87[EUR][1000 genomes]
rs2856316	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2908839	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3020922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7297979	0.90[EUR][1000 genomes]
rs7980119	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
rs2541127	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 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	chr12:11808600-11818800	Genic enhancers	Primary hematopoietic stem cells	blood
4	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:11810800-11818600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:11811000-11817000	Weak transcription	Fetal Kidney	kidney
7	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
8	chr12:11812200-11818200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:11812200-11819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:11812200-11832600	Weak transcription	A549	lung
11	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:11812400-11819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:11812800-11821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:11813000-11818800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:11813400-11820800	Enhancers	Left Ventricle	heart
19	chr12:11813800-11817200	Enhancers	Colon Smooth Muscle	Colon
20	chr12:11813800-11817200	Enhancers	Right Atrium	heart
21	chr12:11814000-11817000	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:11814200-11819000	Enhancers	Psoas Muscle	Psoas
23	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:11814600-11817400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:11814600-11817600	Enhancers	Brain Substantia Nigra	brain
26	chr12:11814800-11818200	Enhancers	Right Ventricle	heart
27	chr12:11814800-11818800	Strong transcription	Dnd41	blood
28	chr12:11814800-11826600	Weak transcription	Osteobl	bone
29	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:11815000-11817000	Enhancers	Brain Anterior Caudate	brain
31	chr12:11815000-11817600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:11815000-11818000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:11815000-11819000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:11815000-11819000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:11815000-11819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:11815000-11819000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:11815000-11819200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:11815000-11819200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:11815000-11820400	Enhancers	Fetal Muscle Leg	muscle
40	chr12:11815000-11825600	Weak transcription	Small Intestine	intestine
41	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:11815000-11836800	Weak transcription	NHEK	skin
43	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:11815200-11817400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:11815200-11818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:11815200-11819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:11815200-11819000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:11815200-11821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
50	chr12:11815200-11837800	Weak transcription	NH-A	brain

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