Variant report

Variant	rs11622786
Chromosome Location	chr14:31128463-31128464
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	chr14:31089949..31092197-chr14:31126575..31129516,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1113946	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11156637	0.82[AMR][1000 genomes]
rs1123860	0.86[AMR][1000 genomes]
rs12586678	0.82[AMR][1000 genomes]
rs12882048	0.81[AMR][1000 genomes]
rs12882931	0.87[AMR][1000 genomes]
rs12888568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs142983	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17096941	0.80[AMR][1000 genomes]
rs17097023	0.88[AMR][1000 genomes]
rs17097130	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17097160	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038451	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273522	0.83[AMR][1000 genomes]
rs229164	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34935871	0.84[AMR][1000 genomes]
rs3736773	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825740	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4399466	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59856095	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976712	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7493549	0.85[AMR][1000 genomes]
rs8009427	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8012325	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8013017	0.81[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	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
11	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
12	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
13	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
17	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:31115600-31130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:31116600-31128800	Weak transcription	Right Atrium	heart
23	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:31117200-31130600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:31117800-31132800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:31118200-31133200	Weak transcription	Lung	lung
31	chr14:31118200-31134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:31118400-31130800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:31118400-31134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:31118800-31134000	Strong transcription	HSMM	muscle
35	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
36	chr14:31120600-31130800	Strong transcription	NH-A	brain
37	chr14:31120800-31129000	Strong transcription	Primary T cells from cord blood	blood
38	chr14:31121000-31130800	Strong transcription	Fetal Thymus	thymus
39	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
42	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
43	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
44	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:31123600-31130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:31123600-31130000	Weak transcription	NHDF-Ad	bronchial
48	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
50	chr14:31124000-31133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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