Variant report

Variant	rs8016829
Chromosome Location	chr14:69233980-69233981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69228047..69235545-chr14:69258153..69263182,8	K562	blood:
2	chr14:69227522..69230356-chr14:69232176..69234419,3	MCF-7	breast:
3	chr14:69229565..69232248-chr14:69232416..69234037,2	K562	blood:
4	chr14:69232699..69236940-chr14:69253332..69256719,3	K562	blood:
5	chr14:69231986..69234711-chr14:69260797..69263067,2	MCF-7	breast:
6	chr14:69196911..69199506-chr14:69233921..69236013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10138717	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138953	0.87[EUR][1000 genomes]
rs10143137	0.82[CHB][hapmap]
rs11158766	0.81[EUR][1000 genomes]
rs28490497	0.91[EUR][1000 genomes]
rs55834579	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61985011	0.86[EUR][1000 genomes]
rs61985015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7151054	0.82[CHB][hapmap]
rs7153919	0.94[EUR][1000 genomes]
rs7155978	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7159916	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8020714	0.82[CHB][hapmap]
rs9635254	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69222600-69235600	Enhancers	Ovary	ovary
2	chr14:69224800-69237200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:69225000-69237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:69225200-69237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:69225800-69237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:69226000-69234400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
8	chr14:69230000-69237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69230400-69237400	Weak transcription	Gastric	stomach
11	chr14:69230400-69237400	Weak transcription	Right Ventricle	heart
12	chr14:69230400-69237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69230800-69234000	Weak transcription	Placenta	Placenta
14	chr14:69230800-69237000	Weak transcription	Left Ventricle	heart
15	chr14:69230800-69237800	Weak transcription	Right Atrium	heart
16	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
17	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
18	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
19	chr14:69231800-69237200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:69232000-69235000	Weak transcription	Fetal Thymus	thymus
21	chr14:69232200-69234400	Enhancers	Spleen	Spleen
22	chr14:69232400-69234800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:69232400-69237200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:69232400-69237200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:69232400-69237400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:69232600-69234400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:69232600-69236800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:69232600-69236800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:69232600-69237200	Weak transcription	Primary T cells from cord blood	blood
30	chr14:69232800-69237200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:69233200-69234400	Enhancers	HepG2	liver
32	chr14:69233400-69234000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:69233400-69234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:69233400-69247000	Weak transcription	Liver	Liver
35	chr14:69233600-69234600	Weak transcription	Lung	lung
36	chr14:69233600-69236400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:69233600-69243200	Weak transcription	Pancreas	Pancrea
38	chr14:69233800-69234400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:69233800-69241800	Weak transcription	Fetal Intestine Small	intestine

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