Variant report

Variant	rs73280103
Chromosome Location	chr14:65823749-65823750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65723600..65725474-chr14:65822150..65825144,2	MCF-7	breast:
2	chr14:65567238..65569298-chr14:65821601..65824153,2	MCF-7	breast:
3	chr14:65820651..65828097-chr14:65876794..65881062,12	MCF-7	breast:
4	chr14:65820274..65829265-chr14:65876318..65881127,26	MCF-7	breast:
5	chr14:65720634..65723404-chr14:65821648..65825451,4	MCF-7	breast:
6	chr14:65693998..65695540-chr14:65823003..65824928,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17102600	0.84[AFR][1000 genomes]
rs56921348	0.84[AFR][1000 genomes]
rs57134875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309452	0.91[AFR][1000 genomes]
rs58794139	0.91[AFR][1000 genomes]
rs58832122	1.00[AMR][1000 genomes]
rs59515554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61155946	1.00[AMR][1000 genomes]
rs61226824	1.00[AMR][1000 genomes]
rs73278046	0.84[AFR][1000 genomes]
rs73278048	1.00[AFR][1000 genomes]
rs73278079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282301	1.00[AMR][1000 genomes]
rs73282302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65814000-65824800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:65815400-65824000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:65816800-65828000	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:65819600-65824400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65819600-65824800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:65819800-65824400	Enhancers	Placenta	Placenta
7	chr14:65819800-65824600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:65819800-65824800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:65821600-65831600	Weak transcription	Esophagus	oesophagus
10	chr14:65821800-65824000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:65821800-65824000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65821800-65824000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:65821800-65824000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:65821800-65824200	Weak transcription	Lung	lung
15	chr14:65821800-65828800	Weak transcription	Psoas Muscle	Psoas
16	chr14:65822000-65823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:65822000-65824200	Weak transcription	Brain Anterior Caudate	brain
18	chr14:65822200-65824000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:65822400-65824000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:65822400-65824000	Enhancers	NHDF-Ad	bronchial
21	chr14:65822600-65834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:65822800-65823800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:65822800-65824200	Enhancers	NH-A	brain
24	chr14:65822800-65824400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:65822800-65824400	Enhancers	Primary T cells from cord blood	blood
26	chr14:65823000-65823800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:65823000-65823800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:65823000-65823800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:65823000-65823800	Enhancers	Osteobl	bone
30	chr14:65823000-65824000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:65823000-65824000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:65823000-65824000	Enhancers	HUVEC	blood vessel
33	chr14:65823000-65824200	Enhancers	Fetal Intestine Large	intestine
34	chr14:65823200-65823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:65823200-65823800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:65823200-65823800	Enhancers	Fetal Intestine Small	intestine
37	chr14:65823200-65823800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:65823200-65823800	Flanking Active TSS	Hela-S3	cervix
39	chr14:65823200-65824000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:65823200-65824000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:65823200-65824200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65823200-65824200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:65823200-65824400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:65823200-65824400	Enhancers	Fetal Thymus	thymus
45	chr14:65823200-65824400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr14:65823200-65824600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:65823400-65823800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:65823400-65823800	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:65823400-65823800	Flanking Active TSS	NHEK	skin
50	chr14:65823400-65824000	Flanking Active TSS	HMEC	breast

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