Variant report

Variant	rs12889916
Chromosome Location	chr14:38680080-38680081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38675920..38678398-chr14:38679930..38682476,3	K562	blood:
2	chr14:38675920..38678398-chr14:38679930..38682476,2	K562	blood:

Variant related genes	Relation type
ENSG00000139874	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1135474	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12878376	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880345	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12883019	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12887084	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12894572	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17474043	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228497	0.81[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66886850	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832773	chr14:38612778-38785003	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38676600-38680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:38676600-38681600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:38676800-38681000	Flanking Active TSS	HUVEC	blood vessel
4	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr14:38677000-38680200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr14:38677000-38680400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr14:38677000-38680800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr14:38677200-38680800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:38677200-38680800	Active TSS	Osteobl	bone
10	chr14:38677600-38681200	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr14:38678000-38680600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:38678200-38680800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr14:38678200-38681200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:38678400-38680200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr14:38678600-38680400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr14:38678600-38680600	Flanking Active TSS	Liver	Liver
17	chr14:38678800-38680200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr14:38678800-38680200	Flanking Active TSS	Hela-S3	cervix
19	chr14:38678800-38680400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr14:38678800-38680400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
21	chr14:38678800-38680600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr14:38678800-38680800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr14:38678800-38681000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr14:38679200-38680200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
25	chr14:38679200-38680200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr14:38679200-38681000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:38679200-38681200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:38679400-38680400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:38679400-38681000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:38679400-38681000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr14:38679400-38681200	Bivalent/Poised TSS	Right Ventricle	heart
32	chr14:38679400-38681800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:38679600-38680200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:38679600-38680200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:38679600-38680200	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr14:38679600-38680200	Flanking Bivalent TSS/Enh	HSMM	muscle
37	chr14:38679600-38680400	Active TSS	Lung	lung
38	chr14:38679600-38680800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr14:38679600-38680800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr14:38679600-38680800	Active TSS	Colonic Mucosa	Colon
41	chr14:38679600-38680800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:38679600-38680800	Enhancers	Pancreas	Pancrea
43	chr14:38679600-38680800	Active TSS	Rectal Smooth Muscle	rectum
44	chr14:38679600-38680800	Bivalent/Poised TSS	NHEK	skin
45	chr14:38679600-38681000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:38679600-38681000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
47	chr14:38679600-38681000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr14:38679600-38681000	Bivalent/Poised TSS	Left Ventricle	heart
49	chr14:38679600-38681000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr14:38679600-38681000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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