Variant report

Variant	rs28440085
Chromosome Location	chr14:31130766-31130767
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	chr14:31121612..31124772-chr14:31129285..31132285,3	K562	blood:
2	chr14:31122619..31124772-chr14:31129333..31132285,2	K562	blood:

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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135741	1.00[AMR][1000 genomes]
rs10140530	1.00[AMR][1000 genomes]
rs10141104	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142125	0.84[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152074	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28495989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542156	1.00[AMR][1000 genomes]
rs28649144	1.00[AMR][1000 genomes]
rs28649328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28860821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2889991	0.98[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	0.95[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	0.95[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014497	1.00[AMR][1000 genomes]
rs8019014	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	0.87[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
3	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
5	chr14:31096000-31167400	Weak transcription	Gastric	stomach
6	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
10	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
11	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
12	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
16	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:31117800-31132800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:31118200-31133200	Weak transcription	Lung	lung
27	chr14:31118200-31134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:31118400-31130800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:31118400-31134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:31118800-31134000	Strong transcription	HSMM	muscle
31	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
32	chr14:31120600-31130800	Strong transcription	NH-A	brain
33	chr14:31121000-31130800	Strong transcription	Fetal Thymus	thymus
34	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
37	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
38	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
43	chr14:31124000-31133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:31124000-31133200	Weak transcription	Fetal Intestine Small	intestine
45	chr14:31124000-31133200	Weak transcription	Pancreas	Pancrea
46	chr14:31124200-31132800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
48	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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