Variant report

Variant	rs28860821
Chromosome Location	chr14:31113965-31113966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31090592..31093500-chr14:31111639..31114381,2	K562	blood:
2	chr14:31113222..31116093-chr14:31150791..31153051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258648	Chromatin interaction
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135741	1.00[AMR][1000 genomes]
rs10140530	1.00[AMR][1000 genomes]
rs10141104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142125	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28495989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542156	1.00[AMR][1000 genomes]
rs28649144	1.00[AMR][1000 genomes]
rs28649328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2889991	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56250330	1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149384	1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	1.00[AMR][1000 genomes]
rs74041112	1.00[AMR][1000 genomes]
rs74041117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	1.00[AMR][1000 genomes]
rs8010048	0.81[AMR][1000 genomes]
rs8012029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014497	1.00[AMR][1000 genomes]
rs8019014	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
4	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:31094200-31121000	Weak transcription	Spleen	Spleen
10	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
11	chr14:31095200-31119200	Weak transcription	Colonic Mucosa	Colon
12	chr14:31095600-31114400	Weak transcription	Fetal Heart	heart
13	chr14:31095800-31121000	Weak transcription	Ovary	ovary
14	chr14:31095800-31121000	Weak transcription	Thymus	Thymus
15	chr14:31096000-31116600	Weak transcription	Lung	lung
16	chr14:31096000-31121000	Weak transcription	Pancreas	Pancrea
17	chr14:31096000-31167400	Weak transcription	Gastric	stomach
18	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:31099600-31114200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:31099600-31114400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
25	chr14:31102200-31115200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:31102400-31121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:31104000-31121200	Weak transcription	NHEK	skin
29	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
31	chr14:31104600-31114600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:31104800-31121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:31105200-31118000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:31107000-31114200	Strong transcription	Liver	Liver
35	chr14:31107000-31117800	Weak transcription	NHLF	lung
36	chr14:31108000-31115000	Strong transcription	Osteobl	bone
37	chr14:31108600-31114000	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:31109400-31120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr14:31109400-31125200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:31109400-31125800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:31109600-31114200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:31109600-31114400	Weak transcription	A549	lung
43	chr14:31109600-31118400	Weak transcription	HMEC	breast
44	chr14:31109800-31118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:31110200-31116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
47	chr14:31110800-31115400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:31111000-31115200	Strong transcription	Left Ventricle	heart
49	chr14:31111200-31114200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:31111200-31115400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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