Variant report

Variant	rs6576105
Chromosome Location	chr14:105925205-105925206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr14:105924966-105925453	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:105924358-105926670	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:105925003-105926720	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:105925070-105926648	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:105925135-105926868	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:105924388-105925403	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr14:105925160-105925632	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:105925192-105926632	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:105925162-105926756	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:105924908-105925246	K562	blood:	n/a	n/a
11	POLR2A	chr14:105924866-105925589	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr14:105924941-105927231	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFATC1	chr14:105924891-105925207	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:105924324-105925381	HL-60	blood:	n/a	n/a
15	POLR2A	chr14:105925154-105926876	GM12878	blood:	n/a	n/a
16	TCF3	chr14:105925178-105926759	GM12878	blood:	n/a	chr14:105925268-105925278
17	POLR2A	chr14:105925041-105925263	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:105924302-105925295	K562	blood:	n/a	n/a
19	POLR2A	chr14:105925162-105926819	A549	lung:	n/a	n/a
20	POLR2A	chr14:105925083-105926623	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:105925157-105925469	GM12891	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105925177..105927753-chr14:105930969..105933397,2	K562	blood:

No data

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000182979	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12891645	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13707	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3936032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4074000	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4074001	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983412	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983414	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4983624	0.81[AFR][1000 genomes]
rs6576099	1.00[ASN][1000 genomes]
rs6576106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149807	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7492892	0.86[AMR][1000 genomes]
rs7492915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7493450	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8005552	0.93[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897600-105927200	Weak transcription	NH-A	brain
4	chr14:105897800-105940000	Weak transcription	K562	blood
5	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
7	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
12	chr14:105909800-105926800	Weak transcription	HUVEC	blood vessel
13	chr14:105911000-105925600	Strong transcription	Fetal Brain Female	brain
14	chr14:105911200-105925600	Strong transcription	Thymus	Thymus
15	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:105914200-105925400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:105915000-105925600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:105915000-105926800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:105915400-105925400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:105915400-105925400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:105915400-105931000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:105915400-105935000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:105915600-105925400	Strong transcription	Brain Germinal Matrix	brain
25	chr14:105915600-105925600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
27	chr14:105915800-105925400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:105916000-105931000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:105916200-105925400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:105916200-105925400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr14:105916400-105925400	Strong transcription	Spleen	Spleen
32	chr14:105916600-105925400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:105917400-105926800	Weak transcription	Primary B cells from cord blood	blood
34	chr14:105917600-105928800	Weak transcription	Fetal Kidney	kidney
35	chr14:105918000-105926600	Weak transcription	Brain Angular Gyrus	brain
36	chr14:105918000-105926800	Weak transcription	Brain Substantia Nigra	brain
37	chr14:105919000-105925600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:105919000-105935200	Weak transcription	Stomach Mucosa	stomach
39	chr14:105919200-105929400	Weak transcription	Psoas Muscle	Psoas
40	chr14:105920800-105925600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:105920800-105926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:105921800-105925400	Strong transcription	HMEC	breast
43	chr14:105922200-105926400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:105922200-105927200	Weak transcription	Hela-S3	cervix
45	chr14:105922400-105926600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:105922800-105927000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:105923000-105925600	Strong transcription	Fetal Intestine Small	intestine
48	chr14:105923000-105930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:105923200-105926600	Weak transcription	Brain Anterior Caudate	brain
50	chr14:105923200-105926800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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