Variant report

Variant	rs17817634
Chromosome Location	chr12:11840477-11840478
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	chr12:11839323..11841755-chr12:11878975..11881262,2	MCF-7	breast:
2	chr12:11831997..11833714-chr12:11839114..11840803,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1861482	0.91[JPT][hapmap]
rs205528	0.99[ASN][1000 genomes]
rs2111048	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2111049	0.91[JPT][hapmap]
rs2541113	0.83[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs2541128	0.91[JPT][hapmap]
rs2541143	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2724590	0.91[JPT][hapmap]
rs2724626	0.91[JPT][hapmap]
rs2856313	0.91[JPT][hapmap]
rs7967212	1.00[ASW][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
rs17817634	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	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:11822000-11850000	Weak transcription	HMEC	breast
4	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:11827800-11851800	Weak transcription	Ovary	ovary
8	chr12:11829400-11840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
10	chr12:11830400-11840600	Weak transcription	Fetal Kidney	kidney
11	chr12:11830600-11840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:11831000-11842600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:11831000-11848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:11831200-11847200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:11831400-11841000	Weak transcription	Aorta	Aorta
16	chr12:11831400-11845600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:11831800-11840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:11831800-11841600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:11832000-11841000	Weak transcription	Dnd41	blood
21	chr12:11832600-11848200	Weak transcription	HSMMtube	muscle
22	chr12:11834000-11841200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:11834400-11842800	Weak transcription	HSMM	muscle
24	chr12:11835600-11847000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:11835800-11842000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:11835800-11842200	Enhancers	Colon Smooth Muscle	Colon
27	chr12:11836000-11842000	Enhancers	Stomach Mucosa	stomach
28	chr12:11836600-11841200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:11836800-11842400	Enhancers	Adipose Nuclei	Adipose
30	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:11837400-11843600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:11838000-11841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:11838000-11850000	Weak transcription	HUVEC	blood vessel
34	chr12:11838000-11850400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:11838200-11840800	Weak transcription	Small Intestine	intestine
37	chr12:11838200-11841000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:11838200-11841000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:11838200-11841000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:11838200-11841000	Weak transcription	Gastric	stomach
41	chr12:11838200-11841000	Weak transcription	Left Ventricle	heart
42	chr12:11838200-11841000	Weak transcription	Pancreas	Pancrea
43	chr12:11838200-11841000	Weak transcription	Right Ventricle	heart
44	chr12:11838200-11841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:11838200-11841200	Weak transcription	Osteobl	bone
46	chr12:11838200-11846600	Weak transcription	Esophagus	oesophagus
47	chr12:11838200-11848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:11838400-11841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:11838400-11844000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:11838400-11844800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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