Variant report

Variant	rs2152490
Chromosome Location	chr14:20758426-20758427
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	chr14:20756758..20759737-chr14:20760668..20764234,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1953551	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2152491	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2184669	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2318862	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:20743600-20761800	Weak transcription	Psoas Muscle	Psoas
3	chr14:20746200-20763400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:20746400-20764000	Weak transcription	Fetal Brain Male	brain
5	chr14:20746600-20759000	Weak transcription	Brain Germinal Matrix	brain
6	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
7	chr14:20747200-20759400	Weak transcription	HMEC	breast
8	chr14:20747200-20761800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:20747200-20766800	Weak transcription	K562	blood
10	chr14:20748000-20766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:20749000-20761400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:20749000-20763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:20749000-20763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:20749000-20766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:20749200-20759600	Weak transcription	HepG2	liver
16	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:20754400-20770000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:20754400-20770200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:20754400-20770800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:20754600-20770400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:20754600-20770400	Strong transcription	Dnd41	blood
24	chr14:20754800-20761400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:20754800-20763200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:20754800-20770000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:20754800-20770000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:20754800-20770200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:20754800-20770400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:20754800-20770400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:20754800-20770400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:20754800-20770400	Strong transcription	Adipose Nuclei	Adipose
33	chr14:20754800-20770400	Strong transcription	Liver	Liver
34	chr14:20754800-20770400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:20754800-20770600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr14:20755000-20759600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:20755000-20759800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:20755000-20765000	Strong transcription	Brain Anterior Caudate	brain
39	chr14:20755000-20769800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:20755000-20770000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:20755000-20770000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:20755000-20770400	Strong transcription	Primary T cells from cord blood	blood
43	chr14:20755000-20770400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:20755000-20770600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:20755200-20769600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:20755200-20770000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:20755200-20770200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr14:20755200-20770200	Strong transcription	Aorta	Aorta
49	chr14:20755200-20770200	Strong transcription	Fetal Brain Female	brain
50	chr14:20755200-20770200	Strong transcription	Left Ventricle	heart

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