Variant report

Variant	rs11854550
Chromosome Location	chr15:43069014-43069015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43068879..43071699-chr15:43077378..43080380,3	K562	blood:
2	chr15:43067614..43069309-chr15:43072261..43074765,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11070377	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070378	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070380	0.94[CHB][hapmap]
rs11632809	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854668	0.82[AFR][1000 genomes]
rs12591415	0.90[YRI][hapmap]
rs12592573	0.95[YRI][hapmap]
rs12594600	0.90[YRI][hapmap]
rs12594696	0.90[YRI][hapmap]
rs12594765	0.95[YRI][hapmap]
rs16957031	0.82[YRI][hapmap]
rs16957055	0.84[YRI][hapmap]
rs16957061	0.80[YRI][hapmap]
rs16957063	0.84[YRI][hapmap]
rs16957120	0.91[YRI][hapmap]
rs16957165	0.94[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16957244	0.94[CHB][hapmap]
rs2139655	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2682073	0.94[CHB][hapmap];0.80[YRI][hapmap]
rs28722903	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34302400	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35554267	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742992	0.86[YRI][hapmap]
rs3742995	0.84[YRI][hapmap]
rs4334272	0.84[YRI][hapmap]
rs4924696	0.84[CEU][hapmap]
rs55927779	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6493065	0.92[CEU][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67920450	0.81[ASN][1000 genomes]
rs7178567	0.82[CHB][hapmap]
rs7181238	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024266	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs8028167	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8028699	0.85[YRI][hapmap]
rs8030696	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8033336	0.95[YRI][hapmap]
rs8042738	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8042980	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9920092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9920562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9920624	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9920935	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
2	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
3	chr15:43045600-43074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:43051800-43069400	Weak transcription	Gastric	stomach
5	chr15:43051800-43070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:43051800-43074600	Weak transcription	Right Ventricle	heart
7	chr15:43051800-43075000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:43051800-43083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:43052000-43074600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:43054000-43074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:43054000-43080200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:43056800-43116800	Weak transcription	HepG2	liver
15	chr15:43057600-43107000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
17	chr15:43061200-43074600	Weak transcription	HSMMtube	muscle
18	chr15:43062200-43069600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:43062600-43070200	Strong transcription	Primary T cells from cord blood	blood
20	chr15:43062600-43087800	Weak transcription	K562	blood
21	chr15:43062800-43070200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:43062800-43075200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:43062800-43088600	Weak transcription	NHDF-Ad	bronchial
24	chr15:43063000-43083200	Weak transcription	Fetal Intestine Small	intestine
25	chr15:43063000-43093000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:43063200-43074600	Weak transcription	Hela-S3	cervix
27	chr15:43063400-43070000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr15:43063400-43093600	Weak transcription	Esophagus	oesophagus
29	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
30	chr15:43063600-43069400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:43063600-43069600	Strong transcription	Primary B cells from cord blood	blood
32	chr15:43063800-43069600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr15:43063800-43070000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:43064000-43069400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:43064000-43069600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:43064000-43070000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:43064000-43114200	Weak transcription	Fetal Kidney	kidney
38	chr15:43064200-43069400	Strong transcription	Liver	Liver
39	chr15:43064200-43069400	Strong transcription	Fetal Thymus	thymus
40	chr15:43064200-43075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:43064400-43069600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:43064400-43070200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:43064600-43069600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:43064600-43070000	Strong transcription	Fetal Intestine Large	intestine
45	chr15:43064800-43070200	Strong transcription	Fetal Muscle Leg	muscle
46	chr15:43064800-43074600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:43064800-43074600	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:43064800-43074800	Weak transcription	Brain Substantia Nigra	brain
49	chr15:43064800-43150800	Weak transcription	HSMM	muscle
50	chr15:43065200-43069400	Strong transcription	Placenta	Placenta

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