Variant report

Variant	rs12893669
Chromosome Location	chr14:81979982-81979983
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	chr14:81684235..81687113-chr14:81978214..81980524,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10135007	0.89[EUR][1000 genomes]
rs10141903	0.89[EUR][1000 genomes]
rs11159502	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11847098	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889565	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12890754	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12896918	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12897062	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1951605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2025214	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28455614	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4584759	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4903983	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903984	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7150294	0.87[EUR][1000 genomes]
rs7150676	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7401055	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:81960200-81983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
4	chr14:81964000-81980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:81964200-81985200	Weak transcription	K562	blood
6	chr14:81964400-81983000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:81970400-81983200	Weak transcription	Hela-S3	cervix
9	chr14:81970800-81983200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:81971200-81983600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:81972600-81980200	Weak transcription	Colonic Mucosa	Colon
12	chr14:81972600-81983600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:81972600-81987000	Weak transcription	NH-A	brain
14	chr14:81972600-81989800	Weak transcription	HMEC	breast
15	chr14:81972800-81982600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:81972800-81983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:81973200-81983000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:81973400-81980000	Weak transcription	Right Ventricle	heart
19	chr14:81973400-81980800	Weak transcription	Pancreas	Pancrea
20	chr14:81973400-81982400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:81973800-81982400	Weak transcription	Fetal Thymus	thymus
22	chr14:81973800-81983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:81973800-81988800	Weak transcription	Spleen	Spleen
24	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
26	chr14:81974200-81983000	Weak transcription	NHEK	skin
27	chr14:81974200-81983200	Weak transcription	Gastric	stomach
28	chr14:81974200-81983400	Weak transcription	HSMM	muscle
29	chr14:81974400-81980800	Weak transcription	Placenta	Placenta
30	chr14:81974600-81980200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:81974800-81980800	Weak transcription	Fetal Brain Female	brain
32	chr14:81974800-81985400	Weak transcription	HUVEC	blood vessel
33	chr14:81974800-81985600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
35	chr14:81976000-81983200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:81976400-81983000	Weak transcription	NHLF	lung
37	chr14:81976600-81982200	Weak transcription	Psoas Muscle	Psoas
38	chr14:81976600-81982400	Weak transcription	Aorta	Aorta
39	chr14:81976600-81982400	Weak transcription	Left Ventricle	heart
40	chr14:81976600-81982800	Weak transcription	HSMMtube	muscle
41	chr14:81976600-81983200	Weak transcription	Right Atrium	heart
42	chr14:81976600-81984200	Weak transcription	Small Intestine	intestine
43	chr14:81976800-81982800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:81976800-81983000	Weak transcription	Fetal Kidney	kidney
45	chr14:81976800-81983000	Weak transcription	Osteobl	bone
46	chr14:81977400-81980600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:81977600-81983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:81977600-81985200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:81977600-81985600	Strong transcription	Primary T cells from cord blood	blood
50	chr14:81977800-81983400	Weak transcription	Brain Cingulate Gyrus	brain

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