Variant report

Variant	rs12432546
Chromosome Location	chr14:68124334-68124335
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	POLR2A	chr14:68124100-68124404	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68124120..68125746-chr14:68140921..68142435,2	MCF-7	breast:
2	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272253	TF binding region
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483802	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100925	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431676	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12434923	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12435352	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12435531	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435927	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436474	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12437263	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12587408	0.84[ASN][1000 genomes]
rs12590038	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12590620	0.80[ASN][1000 genomes]
rs15493	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17249444	0.81[ASN][1000 genomes]
rs17249563	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836863	0.88[ASN][1000 genomes]
rs1804799	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009590	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3759768	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56981676	0.80[ASN][1000 genomes]
rs59421018	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60851053	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010798	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013234	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs910315	0.81[AMR][1000 genomes];0.96[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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
3	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
5	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:68111800-68126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:68112000-68124400	Strong transcription	Brain Germinal Matrix	brain
9	chr14:68112000-68129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:68112000-68129800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:68112200-68125000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr14:68112200-68126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:68112200-68126800	Strong transcription	Placenta	Placenta
14	chr14:68112200-68127000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:68112200-68127000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:68112200-68127200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:68112200-68127200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr14:68112200-68128000	Strong transcription	Dnd41	blood
19	chr14:68112200-68128200	Strong transcription	Primary T cells from cord blood	blood
20	chr14:68112200-68128200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:68112200-68129200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:68112400-68124400	Strong transcription	HSMM	muscle
23	chr14:68112400-68126600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68112400-68126800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:68112400-68126800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:68112400-68127000	Strong transcription	Brain Anterior Caudate	brain
27	chr14:68112400-68127000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr14:68112400-68127800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:68112400-68127800	Strong transcription	A549	lung
30	chr14:68112400-68128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:68112400-68128400	Strong transcription	Liver	Liver
32	chr14:68112400-68129400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:68112400-68129800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:68112400-68130000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:68112400-68130000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:68112800-68124400	Strong transcription	Primary B cells from cord blood	blood
37	chr14:68112800-68126600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:68112800-68128200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:68112800-68128200	Strong transcription	Left Ventricle	heart
40	chr14:68113000-68126800	Strong transcription	Brain Substantia Nigra	brain
41	chr14:68113000-68127400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr14:68113200-68127000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:68113400-68127600	Strong transcription	Fetal Thymus	thymus
44	chr14:68113600-68128000	Strong transcription	Fetal Intestine Large	intestine
45	chr14:68114200-68125000	Strong transcription	HUVEC	blood vessel
46	chr14:68114200-68128000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:68114600-68128600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:68114800-68124600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:68114800-68129800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:68115200-68126800	Strong transcription	Thymus	Thymus

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