Variant report

Variant	rs58583730
Chromosome Location	chr14:70085633-70085634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70083799..70085934-chr14:70125234..70127724,2	MCF-7	breast:
2	chr14:70077503..70080648-chr14:70081276..70089043,11	MCF-7	breast:
3	chr14:70080315..70081958-chr14:70085435..70087455,2	K562	blood:
4	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
5	chr14:70085556..70087478-chr14:70119417..70121355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11845658	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]
rs55870632	1.00[AMR][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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	0.91[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]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	0.91[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]
rs73293376	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	1.00[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	0.80[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	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][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]
rs8014375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080000-70089200	Enhancers	Small Intestine	intestine
3	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
4	chr14:70080600-70088200	Enhancers	Liver	Liver
5	chr14:70080600-70088800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:70080800-70088800	Enhancers	Brain Substantia Nigra	brain
7	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:70081200-70087400	Enhancers	Brain Angular Gyrus	brain
9	chr14:70081200-70088600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:70081600-70088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70082400-70086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70082400-70092000	Weak transcription	Gastric	stomach
14	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:70082600-70088000	Weak transcription	HepG2	liver
16	chr14:70082600-70088600	Enhancers	Brain Anterior Caudate	brain
17	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
18	chr14:70082800-70086000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:70082800-70086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:70082800-70087200	Enhancers	Colon Smooth Muscle	Colon
21	chr14:70082800-70089600	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:70083000-70085800	Weak transcription	Aorta	Aorta
23	chr14:70083000-70088800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:70083000-70088800	Enhancers	Thymus	Thymus
25	chr14:70083000-70089000	Enhancers	Adipose Nuclei	Adipose
26	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:70083200-70085800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr14:70083200-70085800	Enhancers	Stomach Mucosa	stomach
30	chr14:70083200-70086800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:70083200-70086800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:70083200-70087800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:70083200-70088800	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
37	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:70083400-70085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:70083400-70086800	Weak transcription	Fetal Kidney	kidney
41	chr14:70083400-70087200	Enhancers	Stomach Smooth Muscle	stomach
42	chr14:70083400-70087400	Enhancers	HSMMtube	muscle
43	chr14:70083400-70087800	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:70083400-70088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:70083400-70089000	Enhancers	HMEC	breast
46	chr14:70083400-70089200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr14:70083400-70089600	Enhancers	K562	blood
48	chr14:70083400-70090000	Weak transcription	HUVEC	blood vessel
49	chr14:70083400-70091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:70083400-70092000	Weak transcription	Fetal Stomach	stomach

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