Variant report

Variant	rs12890958
Chromosome Location	chr14:35818358-35818359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35817047..35819303-chr14:35821094..35823025,2	K562	blood:
2	chr14:35816577..35819351-chr14:35832841..35834841,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11849210	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12433291	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890150	0.81[ASN][1000 genomes]
rs17103235	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35083166	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35927113	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35811800-35821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35812200-35818800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:35812200-35821000	Weak transcription	Fetal Heart	heart
5	chr14:35813400-35820800	Weak transcription	Fetal Kidney	kidney
6	chr14:35813600-35820800	Weak transcription	Right Atrium	heart
7	chr14:35814200-35821200	Weak transcription	Primary T cells from cord blood	blood
8	chr14:35814200-35821600	Weak transcription	Colonic Mucosa	Colon
9	chr14:35815000-35820800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:35815200-35820800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:35816200-35819400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:35816200-35821200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:35816600-35823400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:35817000-35819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:35817000-35819000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:35817000-35819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:35817000-35819200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:35817000-35819200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:35817000-35819200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:35817000-35821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:35817000-35821000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35817000-35821000	Weak transcription	Adipose Nuclei	Adipose
23	chr14:35817000-35821000	Weak transcription	Spleen	Spleen
24	chr14:35817000-35821200	Weak transcription	Gastric	stomach
25	chr14:35817000-35821600	Weak transcription	Pancreas	Pancrea
26	chr14:35817200-35818400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:35817200-35818400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:35817200-35819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:35817200-35819000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:35817200-35819000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:35817200-35819200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:35817200-35819200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:35817200-35819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:35817200-35819400	Weak transcription	A549	lung
35	chr14:35817200-35821000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:35817200-35821000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:35817200-35821000	Weak transcription	Liver	Liver
38	chr14:35817200-35821000	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:35817200-35821000	Weak transcription	Lung	lung
40	chr14:35817200-35821200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:35817200-35821200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:35817200-35821200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:35817200-35821200	Weak transcription	Ovary	ovary
44	chr14:35817200-35821400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:35817200-35822200	Weak transcription	Stomach Mucosa	stomach
46	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
47	chr14:35817400-35819000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:35817400-35819800	Enhancers	HepG2	liver
49	chr14:35817400-35820800	Weak transcription	Placenta	Placenta
50	chr14:35817400-35821000	Weak transcription	K562	blood

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