Variant report

Variant	rs2371599
Chromosome Location	chr14:81883490-81883491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81870453..81872408-chr14:81882778..81884349,2	K562	blood:
2	chr14:81684550..81687395-chr14:81881105..81883883,2	K562	blood:
3	chr14:81871880..81873578-chr14:81882062..81884053,2	MCF-7	breast:
4	chr14:81870339..81872408-chr14:81882068..81884278,2	K562	blood:
5	chr14:81881608..81884227-chr14:81901358..81903544,2	K562	blood:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003258	0.81[CHB][hapmap]
rs10134500	0.82[CEU][hapmap]
rs10134510	0.80[CEU][hapmap]
rs10135926	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs10146094	0.80[CEU][hapmap]
rs10146257	0.82[CEU][hapmap]
rs10147793	0.80[CEU][hapmap]
rs11846919	0.87[ASN][1000 genomes]
rs12588572	0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1569012	0.81[CHB][hapmap]
rs17111790	0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs17111797	0.80[CEU][hapmap]
rs2371596	0.82[CHB][hapmap]
rs2371602	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3844533	0.90[ASN][1000 genomes]
rs3844534	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3853419	0.80[ASN][1000 genomes]
rs3853420	0.80[ASN][1000 genomes]
rs3853421	0.90[ASN][1000 genomes]
rs3915222	0.81[CHB][hapmap]
rs4110459	0.90[ASN][1000 genomes]
rs4110460	0.91[ASN][1000 genomes]
rs4275784	0.82[CHB][hapmap]
rs4290414	0.90[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4903982	0.82[CHB][hapmap]
rs6574651	0.81[CHB][hapmap]
rs6574653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574655	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7145713	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7153556	0.82[CHB][hapmap]
rs7153600	0.82[CHB][hapmap]
rs7156951	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160907	0.86[CHB][hapmap]
rs8020806	0.91[ASN][1000 genomes]
rs8022070	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9652383	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	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
4	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
5	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:81865000-81889400	Weak transcription	Ovary	ovary
8	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:81868400-81884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:81873600-81886000	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
15	chr14:81876800-81884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:81879400-81884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:81879400-81885800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:81880800-81884800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:81881000-81884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:81881000-81886200	Weak transcription	NHEK	skin
21	chr14:81881000-81892000	Weak transcription	HMEC	breast
22	chr14:81881400-81884200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr14:81881400-81886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:81881600-81883800	Enhancers	Primary hematopoietic stem cells	blood
25	chr14:81881600-81886200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:81881600-81888400	Weak transcription	Psoas Muscle	Psoas
27	chr14:81882200-81883600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:81882200-81883600	Enhancers	Spleen	Spleen
29	chr14:81882600-81883600	Enhancers	Brain Anterior Caudate	brain
30	chr14:81882600-81884000	Enhancers	Adipose Nuclei	Adipose
31	chr14:81882600-81884400	Genic enhancers	K562	blood
32	chr14:81882600-81886200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:81882800-81883600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:81883000-81884000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81883000-81884600	Weak transcription	Liver	Liver
36	chr14:81883000-81886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:81883000-81888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:81883000-81893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:81883200-81883600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:81883200-81884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:81883200-81885800	Weak transcription	Lung	lung
42	chr14:81883400-81883600	Enhancers	Placenta	Placenta
43	chr14:81883400-81884400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:81883400-81888200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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