Variant report

Variant	rs56859443
Chromosome Location	chr14:70183095-70183096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70181314..70183326-chr14:70188869..70190637,2	K562	blood:
2	chr14:70078362..70080995-chr14:70181831..70184954,3	MCF-7	breast:
3	chr14:70175565..70179211-chr14:70180408..70183769,4	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11844446	1.00[EUR][1000 genomes]
rs11844465	1.00[EUR][1000 genomes]
rs11845465	1.00[EUR][1000 genomes]
rs11845528	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11847510	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56808476	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs73286939	1.00[EUR][1000 genomes]
rs73286943	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009986	1.00[EUR][1000 genomes]

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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
2	chr14:70177200-70184000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr14:70177400-70184200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:70178200-70187000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:70178400-70183200	Weak transcription	Aorta	Aorta
6	chr14:70180400-70186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
8	chr14:70181400-70183800	Enhancers	Right Atrium	heart
9	chr14:70181400-70184000	Enhancers	Esophagus	oesophagus
10	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:70181600-70183200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:70181600-70184200	Enhancers	Fetal Muscle Trunk	muscle
13	chr14:70181600-70185000	Weak transcription	HepG2	liver
14	chr14:70181600-70185600	Enhancers	Fetal Thymus	thymus
15	chr14:70181600-70186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:70181600-70186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:70181600-70186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:70181600-70186400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:70181600-70186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:70181600-70186400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:70181600-70188000	Enhancers	Fetal Muscle Leg	muscle
22	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
23	chr14:70182000-70183200	Enhancers	Colonic Mucosa	Colon
24	chr14:70182000-70183600	Enhancers	Fetal Brain Male	brain
25	chr14:70182000-70184000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:70182000-70184600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:70182000-70185800	Weak transcription	GM12878-XiMat	blood
28	chr14:70182000-70186600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:70182000-70187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:70182200-70186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:70182400-70183800	Enhancers	Brain Hippocampus Middle	brain
33	chr14:70182400-70183800	Enhancers	Fetal Heart	heart
34	chr14:70182400-70184000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:70182400-70184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:70182400-70184200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:70182400-70184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:70182400-70184800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:70182400-70184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:70182400-70185000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr14:70182600-70183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:70182600-70183200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr14:70182600-70183200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr14:70182600-70183200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:70182600-70183200	Enhancers	Brain Germinal Matrix	brain
46	chr14:70182600-70183400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:70182600-70183600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:70182600-70183600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:70182600-70183600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:70182600-70183600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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