Variant report

Variant	rs13066993
Chromosome Location	chr3:141129999-141130000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141122791..141124629-chr3:141128045..141130082,2	K562	blood:
2	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
3	chr3:141124961..141126673-chr3:141128452..141131076,2	K562	blood:
4	chr3:141030275..141032040-chr3:141128069..141130455,2	K562	blood:
5	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
6	chr3:141085740..141088451-chr3:141128434..141131392,3	K562	blood:
7	chr3:141085603..141088403-chr3:141129838..141131985,2	MCF-7	breast:
8	chr3:141128423..141130797-chr3:141173455..141176523,3	MCF-7	breast:
9	chr3:141119734..141124291-chr3:141125562..141133374,8	K562	blood:
10	chr3:141029007..141031829-chr3:141128539..141131843,4	MCF-7	breast:
11	chr3:141117835..141119368-chr3:141128944..141131401,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13067032	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13068065	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13069734	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13091182	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13095453	0.92[CEU][hapmap]
rs13099193	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2011092	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35225290	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6767786	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6767899	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6785073	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6789653	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6807935	0.90[EUR][1000 genomes]
rs726838	0.93[CEU][hapmap]
rs9821337	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9822195	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9822327	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9857275	0.92[CEU][hapmap]
rs9858603	0.89[AMR][1000 genomes];0.96[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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141122000-141130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:141122000-141131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:141122600-141130400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:141122600-141130400	Genic enhancers	NH-A	brain
5	chr3:141123200-141130400	Genic enhancers	Osteobl	bone
6	chr3:141123200-141130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:141123200-141130600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:141123800-141130200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:141123800-141131400	Weak transcription	Thymus	Thymus
10	chr3:141124000-141131000	Weak transcription	Primary B cells from cord blood	blood
11	chr3:141124800-141130000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:141125000-141131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:141125400-141131200	Weak transcription	Brain Germinal Matrix	brain
14	chr3:141125800-141130000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:141126000-141130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:141126000-141130400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:141126600-141130600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr3:141126600-141130600	Enhancers	Right Ventricle	heart
19	chr3:141126600-141131800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:141126800-141130200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:141126800-141132000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:141126800-141138000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:141127000-141131000	Weak transcription	Fetal Brain Male	brain
24	chr3:141127200-141130600	Enhancers	Left Ventricle	heart
25	chr3:141127600-141130400	Enhancers	HepG2	liver
26	chr3:141127600-141131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:141127600-141131000	Enhancers	Stomach Mucosa	stomach
28	chr3:141127600-141132200	Genic enhancers	Fetal Intestine Small	intestine
29	chr3:141127800-141130200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:141127800-141130200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:141127800-141130600	Enhancers	Pancreas	Pancrea
32	chr3:141127800-141131400	Enhancers	Placenta	Placenta
33	chr3:141128000-141130400	Enhancers	Right Atrium	heart
34	chr3:141128000-141130600	Enhancers	Lung	lung
35	chr3:141128000-141130600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr3:141128200-141130000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:141128200-141130200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:141128200-141130200	Enhancers	Brain Substantia Nigra	brain
39	chr3:141128200-141130400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:141128200-141130400	Enhancers	Fetal Lung	lung
41	chr3:141128200-141130600	Genic enhancers	Fetal Intestine Large	intestine
42	chr3:141128200-141130600	Enhancers	Small Intestine	intestine
43	chr3:141128200-141130800	Enhancers	K562	blood
44	chr3:141128200-141131000	Enhancers	Liver	Liver
45	chr3:141128200-141131000	Enhancers	Brain Angular Gyrus	brain
46	chr3:141128200-141131000	Enhancers	Brain Hippocampus Middle	brain
47	chr3:141128400-141130000	Enhancers	Rectal Smooth Muscle	rectum
48	chr3:141128400-141130200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr3:141128400-141130400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:141128400-141130600	Enhancers	Spleen	Spleen

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