Variant report

Variant	rs17514713
Chromosome Location	chr22:29182070-29182071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29136928..29140787-chr22:29180238..29183986,5	MCF-7	breast:
2	chr22:29179941..29182121-chr22:29182372..29184122,2	K562	blood:
3	chr22:29137055..29138746-chr22:29181080..29182813,2	K562	blood:
4	chr22:29167265..29171100-chr22:29181647..29184662,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159873	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1474961	1.00[ASW][hapmap]
rs16986825	1.00[YRI][hapmap]
rs16986838	1.00[YRI][hapmap]
rs17508019	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35873774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762848	1.00[YRI][hapmap]
rs73881132	0.97[EUR][1000 genomes]
rs73881178	0.80[EUR][1000 genomes]
rs739196	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv964711	chr22:29181980-29185333	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17514713	EGFL6	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29170000-29182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
4	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:29170200-29182400	Strong transcription	Fetal Stomach	stomach
6	chr22:29170400-29183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:29170400-29184000	Strong transcription	Fetal Muscle Leg	muscle
8	chr22:29170400-29185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29170600-29184600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:29170600-29184800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr22:29170600-29185400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:29170600-29186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29170600-29186400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:29170800-29186400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:29171000-29185600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:29171200-29186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29171200-29188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29171400-29186000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:29171800-29186200	Strong transcription	Fetal Thymus	thymus
20	chr22:29172400-29186200	Strong transcription	Placenta	Placenta
21	chr22:29172600-29184200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:29173200-29185600	Strong transcription	Left Ventricle	heart
23	chr22:29173800-29185600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:29173800-29193000	Weak transcription	Right Atrium	heart
25	chr22:29175000-29183600	Strong transcription	Dnd41	blood
26	chr22:29175000-29186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:29175400-29184200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:29175400-29185600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr22:29175600-29182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29175600-29183600	Strong transcription	Primary B cells from cord blood	blood
31	chr22:29175600-29184800	Strong transcription	Thymus	Thymus
32	chr22:29175600-29185800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:29175800-29185200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:29175800-29185600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:29175800-29186200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:29176000-29183200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr22:29176200-29183000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr22:29176200-29183800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29176200-29184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:29176200-29184600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:29176400-29182200	Strong transcription	Lung	lung
42	chr22:29176400-29182400	Strong transcription	NHEK	skin
43	chr22:29176400-29184000	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr22:29176400-29184400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:29176400-29184600	Strong transcription	Adipose Nuclei	Adipose
46	chr22:29176400-29185000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:29176400-29185200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:29176400-29185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:29176400-29186000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr22:29176600-29183200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links