Variant report

Variant	rs8004314
Chromosome Location	chr14:56589227-56589228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582271..56586215-chr14:56587946..56591679,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10138745	0.99[ASN][1000 genomes]
rs10149912	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483664	0.88[ASN][1000 genomes]
rs11158073	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158074	0.90[ASN][1000 genomes]
rs11158075	0.90[ASN][1000 genomes]
rs1157501	0.90[ASN][1000 genomes]
rs11846023	0.92[ASN][1000 genomes]
rs1383395	0.88[ASN][1000 genomes]
rs1480647	0.90[ASN][1000 genomes]
rs1480648	0.90[ASN][1000 genomes]
rs1480649	0.90[ASN][1000 genomes]
rs1480651	0.90[ASN][1000 genomes]
rs1480653	0.90[ASN][1000 genomes]
rs1480654	0.90[ASN][1000 genomes]
rs1480655	0.90[ASN][1000 genomes]
rs1480656	0.90[ASN][1000 genomes]
rs17090922	0.92[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs17090962	0.88[ASN][1000 genomes]
rs17090964	0.88[ASN][1000 genomes]
rs17090970	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17090982	0.90[ASN][1000 genomes]
rs17090986	0.90[ASN][1000 genomes]
rs17090998	0.90[ASN][1000 genomes]
rs17091004	0.90[ASN][1000 genomes]
rs17091006	0.90[ASN][1000 genomes]
rs17091008	0.90[ASN][1000 genomes]
rs17091010	0.90[ASN][1000 genomes]
rs1951954	0.90[ASN][1000 genomes]
rs1957889	0.90[ASN][1000 genomes]
rs28580335	0.90[ASN][1000 genomes]
rs3742572	0.98[ASN][1000 genomes]
rs4628882	0.90[ASN][1000 genomes]
rs55678499	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55941817	0.90[ASN][1000 genomes]
rs56196615	0.90[ASN][1000 genomes]
rs57016870	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57186216	0.97[ASN][1000 genomes]
rs57701314	0.88[ASN][1000 genomes]
rs58507155	0.90[ASN][1000 genomes]
rs59328971	0.88[ASN][1000 genomes]
rs59357371	0.86[ASN][1000 genomes]
rs59905171	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61317680	0.87[ASN][1000 genomes]
rs61544265	0.90[ASN][1000 genomes]
rs7140378	0.89[ASN][1000 genomes]
rs7142629	0.90[ASN][1000 genomes]
rs7142937	0.90[ASN][1000 genomes]
rs7144227	0.90[ASN][1000 genomes]
rs7144527	0.90[ASN][1000 genomes]
rs7144901	0.90[ASN][1000 genomes]
rs7145187	0.90[ASN][1000 genomes]
rs7145439	0.90[ASN][1000 genomes]
rs7146538	0.90[ASN][1000 genomes]
rs7153447	0.90[ASN][1000 genomes]
rs7153608	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154407	0.90[ASN][1000 genomes]
rs7158199	0.90[ASN][1000 genomes]
rs7158316	0.90[ASN][1000 genomes]
rs7159040	0.90[ASN][1000 genomes]
rs7159290	0.90[ASN][1000 genomes]
rs7159691	0.90[ASN][1000 genomes]
rs7160120	0.88[ASN][1000 genomes]
rs7160744	0.90[ASN][1000 genomes]
rs73287042	0.88[ASN][1000 genomes]
rs73287091	0.90[ASN][1000 genomes]
rs73287092	0.90[ASN][1000 genomes]
rs73287099	0.90[ASN][1000 genomes]
rs73288913	0.90[ASN][1000 genomes]
rs8005783	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8006589	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8007444	0.90[ASN][1000 genomes]
rs8008108	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8012389	0.90[ASN][1000 genomes]
rs8014415	0.90[ASN][1000 genomes]
rs8014498	0.90[ASN][1000 genomes]
rs8017757	0.88[ASN][1000 genomes]
rs8018839	0.90[ASN][1000 genomes]
rs8019044	0.88[ASN][1000 genomes]
rs8019252	0.90[ASN][1000 genomes]
rs8022898	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56586400-56591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56586800-56590000	Flanking Active TSS	Dnd41	blood
3	chr14:56587400-56590800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:56587400-56591000	Weak transcription	Gastric	stomach
5	chr14:56587400-56591200	Weak transcription	Lung	lung
6	chr14:56587400-56591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:56587400-56592800	Weak transcription	Esophagus	oesophagus
8	chr14:56587400-56596000	Weak transcription	Right Atrium	heart
9	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
10	chr14:56587600-56589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:56587600-56589600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:56587600-56589800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:56587600-56589800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:56587600-56589800	Enhancers	NHLF	lung
15	chr14:56587600-56590200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:56587600-56590400	Enhancers	Primary hematopoietic stem cells	blood
17	chr14:56587600-56590400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:56587600-56590400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:56587600-56590400	Weak transcription	Fetal Lung	lung
20	chr14:56587600-56591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:56587600-56591000	Weak transcription	NH-A	brain
22	chr14:56587600-56591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:56587600-56591200	Weak transcription	Aorta	Aorta
24	chr14:56587600-56591200	Enhancers	Brain Germinal Matrix	brain
25	chr14:56587600-56591600	Weak transcription	Spleen	Spleen
26	chr14:56587600-56591800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:56587600-56592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:56587600-56592000	Enhancers	Colon Smooth Muscle	Colon
29	chr14:56587600-56592000	Enhancers	NHDF-Ad	bronchial
30	chr14:56587600-56592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:56587600-56592400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:56587600-56592400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:56587600-56592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:56587600-56592600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:56587600-56593200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:56587600-56595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:56587600-56595800	Weak transcription	Left Ventricle	heart
38	chr14:56587600-56595800	Weak transcription	Right Ventricle	heart
39	chr14:56587600-56595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:56587600-56596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:56587600-56596200	Weak transcription	Fetal Stomach	stomach
42	chr14:56587600-56596200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:56587600-56597000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:56587600-56598000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:56587800-56589600	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:56587800-56589800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:56587800-56590600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:56587800-56591000	Weak transcription	Fetal Intestine Large	intestine
49	chr14:56587800-56592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:56588000-56589800	Enhancers	Monocytes-CD14+_RO01746	blood

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