Variant report

Variant	rs58697041
Chromosome Location	chr14:70183368-70183369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70178635..70181592-chr14:70183298..70186714,3	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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10498530	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846784	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147464	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275825	0.83[EUR][1000 genomes]
rs2184599	0.82[EUR][1000 genomes]
rs4902749	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399658	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675062	0.83[ASN][1000 genomes]
rs67737953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723899	0.83[EUR][1000 genomes]
rs72723901	0.83[EUR][1000 genomes]
rs867900	0.84[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:116 , 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	chr14:70180400-70186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
7	chr14:70181400-70183800	Enhancers	Right Atrium	heart
8	chr14:70181400-70184000	Enhancers	Esophagus	oesophagus
9	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
10	chr14:70181600-70184200	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:70181600-70185000	Weak transcription	HepG2	liver
12	chr14:70181600-70185600	Enhancers	Fetal Thymus	thymus
13	chr14:70181600-70186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:70181600-70186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:70181600-70186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:70181600-70186400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:70181600-70186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:70181600-70186400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:70181600-70188000	Enhancers	Fetal Muscle Leg	muscle
20	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
21	chr14:70182000-70183600	Enhancers	Fetal Brain Male	brain
22	chr14:70182000-70184000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:70182000-70184600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:70182000-70185800	Weak transcription	GM12878-XiMat	blood
25	chr14:70182000-70186600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:70182000-70187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:70182200-70186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:70182400-70183800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:70182400-70183800	Enhancers	Fetal Heart	heart
31	chr14:70182400-70184000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:70182400-70184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:70182400-70184200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr14:70182400-70184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:70182400-70184800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:70182400-70184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:70182400-70185000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:70182600-70183400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:70182600-70183600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:70182600-70183600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:70182600-70183600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr14:70182600-70183600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:70182600-70183600	Enhancers	Fetal Brain Female	brain
44	chr14:70182600-70183600	Enhancers	Gastric	stomach
45	chr14:70182600-70183800	Enhancers	Primary B cells from cord blood	blood
46	chr14:70182600-70183800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:70182600-70183800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:70182600-70183800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:70182600-70183800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:70182600-70183800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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