Variant report

Variant	rs8008992
Chromosome Location	chr14:81975512-81975513
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	chr14:81931312..81933457-chr14:81974690..81977419,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10142746	1.00[ASN][1000 genomes]
rs10144172	1.00[ASN][1000 genomes]
rs11846082	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846663	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846666	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11848548	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11851475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12883451	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115590	1.00[ASN][1000 genomes]
rs60944245	1.00[ASN][1000 genomes]
rs7144154	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7158459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158559	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74064993	1.00[ASN][1000 genomes]
rs8020513	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8022069	1.00[YRI][hapmap];0.99[AFR][1000 genomes];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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3353672	chr14:81975350-81975534	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:81943400-81976400	Strong transcription	Dnd41	blood
7	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:81948600-81975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:81948800-81977800	Strong transcription	Primary B cells from cord blood	blood
10	chr14:81958400-81976400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:81960200-81983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
13	chr14:81962600-81977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:81964000-81980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:81964200-81985200	Weak transcription	K562	blood
16	chr14:81964400-81983000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:81966800-81976200	Weak transcription	Psoas Muscle	Psoas
18	chr14:81967400-81976000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:81968600-81975800	Weak transcription	NHLF	lung
21	chr14:81970400-81983200	Weak transcription	Hela-S3	cervix
22	chr14:81970800-81983200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:81971200-81983600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:81971400-81977200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:81971400-81978600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:81971400-81978800	Weak transcription	Fetal Stomach	stomach
27	chr14:81972400-81977600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:81972600-81975600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:81972600-81976000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:81972600-81976200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:81972600-81976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:81972600-81978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81972600-81979600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:81972600-81979800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:81972600-81980200	Weak transcription	Colonic Mucosa	Colon
36	chr14:81972600-81983600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:81972600-81987000	Weak transcription	NH-A	brain
38	chr14:81972600-81989800	Weak transcription	HMEC	breast
39	chr14:81972800-81975600	Weak transcription	NHDF-Ad	bronchial
40	chr14:81972800-81975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:81972800-81975800	Weak transcription	Osteobl	bone
42	chr14:81972800-81977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:81972800-81982600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:81972800-81983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:81973000-81976400	Weak transcription	HepG2	liver
46	chr14:81973000-81979400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:81973200-81977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:81973200-81983000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:81973400-81975600	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:81973400-81976200	Weak transcription	Left Ventricle	heart

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