Variant report

Variant	rs12434513
Chromosome Location	chr14:65934921-65934922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:65934665-65935103	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65879676..65881204-chr14:65933662..65936142,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-12	chr14:65934525-65935059	NONHSAT037392

Variant related genes	Relation type
MIR625	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10130526	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131727	0.98[ASN][1000 genomes]
rs10143920	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149311	0.98[ASN][1000 genomes]
rs10483777	1.00[ASN][1000 genomes]
rs12323434	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431562	1.00[ASN][1000 genomes]
rs12432032	1.00[ASN][1000 genomes]
rs12432426	1.00[ASN][1000 genomes]
rs12433051	0.95[ASN][1000 genomes]
rs12433273	1.00[ASN][1000 genomes]
rs12433688	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434375	0.95[ASN][1000 genomes]
rs12434626	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12435809	0.91[ASN][1000 genomes]
rs12436349	1.00[ASN][1000 genomes]
rs12436381	0.98[ASN][1000 genomes]
rs12436402	0.95[ASN][1000 genomes]
rs12436434	1.00[ASN][1000 genomes]
rs12436482	1.00[ASN][1000 genomes]
rs12436677	0.91[ASN][1000 genomes]
rs12437088	1.00[ASN][1000 genomes]
rs12437132	0.95[ASN][1000 genomes]
rs17102688	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102839	0.91[ASN][1000 genomes]
rs17246385	0.91[ASN][1000 genomes]
rs1952605	0.95[ASN][1000 genomes]
rs2300863	0.87[ASN][1000 genomes]
rs2300866	0.87[ASN][1000 genomes]
rs2300870	0.81[ASN][1000 genomes]
rs55967642	0.95[AFR][1000 genomes]
rs56821971	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58087042	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58160832	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61417186	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056763	0.86[AFR][1000 genomes]
rs74056766	0.86[AFR][1000 genomes]
rs74056773	0.95[AFR][1000 genomes]
rs74056775	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056782	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056787	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056795	0.95[AFR][1000 genomes]
rs74056800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058525	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74058541	0.95[ASN][1000 genomes]
rs74058560	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv976347	chr14:65929311-65939441	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65898400-65935600	Weak transcription	Gastric	stomach
2	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
5	chr14:65917200-65936600	Weak transcription	Pancreas	Pancrea
6	chr14:65918600-65935600	Weak transcription	Fetal Stomach	stomach
7	chr14:65920400-65937800	Weak transcription	Ovary	ovary
8	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
9	chr14:65922200-65936400	Weak transcription	Placenta	Placenta
10	chr14:65923200-65936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:65923200-65938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:65923400-65935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:65923400-65937000	Weak transcription	Brain Germinal Matrix	brain
14	chr14:65923400-65938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
16	chr14:65924000-65937600	Weak transcription	Fetal Brain Female	brain
17	chr14:65924200-65936600	Weak transcription	Lung	lung
18	chr14:65924400-65935400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:65924600-65935400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:65925200-65936000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
22	chr14:65926000-65938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:65927600-65935400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:65927600-65936600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:65927600-65936600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:65928000-65936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65928200-65936400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:65928200-65936400	Weak transcription	Fetal Intestine Large	intestine
29	chr14:65928600-65935400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:65928600-65935600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:65928600-65936600	Weak transcription	Adipose Nuclei	Adipose
32	chr14:65928600-65936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:65928600-65936800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:65928600-65937400	Weak transcription	Small Intestine	intestine
35	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
36	chr14:65928800-65937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:65928800-65938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:65929000-65936200	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:65929000-65936600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:65929200-65935200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:65929200-65936400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:65929200-65936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:65929200-65936800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:65929200-65937200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:65929200-65937200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:65929200-65939800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:65929400-65935400	Weak transcription	Brain Angular Gyrus	brain
48	chr14:65929400-65936000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:65929400-65937600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:65929600-65935200	Weak transcription	Primary B cells from cord blood	blood

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