Variant report

Variant	rs2724626
Chromosome Location	chr12:11830715-11830716
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11826428..11828100-chr12:11830041..11832923,3	K562	blood:
2	chr12:11829531..11831196-chr12:11831568..11835696,3	MCF-7	breast:
3	chr12:11826577..11828100-chr12:11830041..11832923,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11054413	0.82[CHB][hapmap]
rs1108211	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17817634	0.91[JPT][hapmap]
rs1861482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111048	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2111049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250825	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541113	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2541115	0.83[EUR][1000 genomes]
rs2541122	0.91[CHB][hapmap]
rs2541127	0.91[CHB][hapmap]
rs2541128	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541129	0.82[CHB][hapmap]
rs2541143	0.84[JPT][hapmap]
rs2724590	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724631	0.91[CEU][hapmap]
rs2724649	0.82[CHB][hapmap]
rs2856303	0.91[CHB][hapmap]
rs2856308	0.82[CHB][hapmap]
rs2856309	0.91[CHB][hapmap]
rs2856310	0.82[CHB][hapmap]
rs2856311	0.82[CHB][hapmap]
rs2856313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856316	0.82[CHB][hapmap]
rs2908839	0.91[CHB][hapmap]
rs3020922	0.91[CHB][hapmap]
rs6488442	0.90[EUR][1000 genomes]
rs6488443	0.90[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
rs2724626	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11815000-11836800	Weak transcription	NHEK	skin
5	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
7	chr12:11815200-11837800	Weak transcription	NH-A	brain
8	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:11822000-11850000	Weak transcription	HMEC	breast
11	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
13	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:11826200-11831000	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:11826200-11839200	Weak transcription	HepG2	liver
20	chr12:11827200-11830800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
22	chr12:11827400-11830800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:11827400-11831000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:11827400-11831400	Weak transcription	Stomach Mucosa	stomach
25	chr12:11827400-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:11827600-11830800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:11827600-11832200	Weak transcription	HSMMtube	muscle
29	chr12:11827800-11851800	Weak transcription	Ovary	ovary
30	chr12:11828000-11833800	Weak transcription	HSMM	muscle
31	chr12:11828000-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:11828000-11836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:11828000-11837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:11828200-11830800	Enhancers	Thymus	Thymus
35	chr12:11828600-11831200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:11828600-11832600	Strong transcription	Primary B cells from cord blood	blood
37	chr12:11828600-11833600	Enhancers	Fetal Heart	heart
38	chr12:11828800-11830800	Weak transcription	Primary T cells from cord blood	blood
39	chr12:11828800-11831400	Enhancers	Fetal Brain Male	brain
40	chr12:11828800-11831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:11828800-11832400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:11828800-11836600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:11829000-11831000	Enhancers	Brain Angular Gyrus	brain
44	chr12:11829000-11831000	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:11829000-11832000	Strong transcription	Dnd41	blood
46	chr12:11829000-11834200	Genic enhancers	Fetal Thymus	thymus
47	chr12:11829200-11830800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:11829200-11837800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:11829400-11830800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:11829400-11830800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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