Variant report

Variant	rs229165
Chromosome Location	chr14:31113036-31113037
allele	A/T
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:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10131312	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140887	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143215	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143362	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148858	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149721	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10483365	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622971	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624441	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628284	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11628947	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548257	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17096955	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097075	0.96[ASN][1000 genomes]
rs17097077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097124	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17097127	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17348844	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17364127	1.00[EUR][1000 genomes]
rs2124159	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273517	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs229140	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229142	0.96[ASN][1000 genomes]
rs229203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229204	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229229	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229230	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229239	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229242	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229256	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230342	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230344	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230349	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230350	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230354	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230365	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435745	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28662978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679478	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34346578	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs392101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981073	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981075	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981760	0.84[ASN][1000 genomes]
rs4981763	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981768	0.88[ASN][1000 genomes]
rs4981769	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57057168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495706	1.00[EUR][1000 genomes]
rs6571360	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140980	1.00[EUR][1000 genomes]
rs7147237	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152647	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156485	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7158970	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160985	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161321	1.00[EUR][1000 genomes]
rs8004335	0.84[ASN][1000 genomes]
rs8011610	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012506	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014225	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880979	0.91[EUR][1000 genomes];0.92[ASN][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	chr14:31092200-31121000	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	chr14:31092800-31113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:31093800-31113800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:31094000-31113200	Weak transcription	Fetal Brain Male	brain
11	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31094200-31121000	Weak transcription	Spleen	Spleen
13	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
14	chr14:31095200-31119200	Weak transcription	Colonic Mucosa	Colon
15	chr14:31095600-31114400	Weak transcription	Fetal Heart	heart
16	chr14:31095800-31121000	Weak transcription	Ovary	ovary
17	chr14:31095800-31121000	Weak transcription	Thymus	Thymus
18	chr14:31096000-31116600	Weak transcription	Lung	lung
19	chr14:31096000-31121000	Weak transcription	Pancreas	Pancrea
20	chr14:31096000-31167400	Weak transcription	Gastric	stomach
21	chr14:31096200-31113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:31099600-31113200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:31099600-31113200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31099600-31113600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:31099600-31113600	Strong transcription	HSMM	muscle
27	chr14:31099600-31114200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:31099600-31114400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
33	chr14:31102200-31113200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:31102200-31113200	Strong transcription	HepG2	liver
35	chr14:31102200-31115200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:31102400-31121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:31104000-31113200	Weak transcription	Psoas Muscle	Psoas
39	chr14:31104000-31121200	Weak transcription	NHEK	skin
40	chr14:31104200-31113200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
43	chr14:31104400-31113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:31104600-31113200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:31104600-31114600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:31104800-31113200	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31104800-31113200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:31104800-31121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:31105200-31118000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:31105600-31113800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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