Variant report

Variant	rs743272
Chromosome Location	chr14:24618859-24618860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24618632-24621353	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24616215..24619153-chr14:24627779..24631890,5	K562	blood:
2	chr14:24617636..24620012-chr14:24740760..24742567,2	MCF-7	breast:
3	chr14:24618673..24621227-chr14:24682825..24685142,2	K562	blood:
4	chr14:24519595..24523490-chr14:24615649..24620329,4	MCF-7	breast:
5	chr14:24563170..24565113-chr14:24618520..24620450,2	K562	blood:
6	chr14:24615864..24619238-chr14:24619913..24622350,3	K562	blood:
7	chr14:24581756..24587936-chr14:24614253..24620861,10	K562	blood:

No data

Variant related genes	Relation type
PSME2	TF binding region
ENSG00000259529	TF binding region
RNF31	TF binding region
ENSG00000259529	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100889	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11547058	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1543518	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs17101730	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17256713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295320	1.00[MEX][hapmap]
rs3742502	0.90[AFR][1000 genomes]
rs3759622	1.00[MEX][hapmap]
rs4981495	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4981496	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4982867	1.00[ASW][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs72694304	1.00[AFR][1000 genomes]
rs8009671	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8019327	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24617400-24621400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:24617600-24619000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr14:24617600-24619600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:24617600-24630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:24617800-24619000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:24617800-24619200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:24617800-24619200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:24617800-24619400	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr14:24617800-24619400	Genic enhancers	Liver	Liver
10	chr14:24617800-24619400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:24617800-24619600	Genic enhancers	Spleen	Spleen
12	chr14:24617800-24626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:24617800-24629800	Weak transcription	Right Atrium	heart
14	chr14:24618000-24619000	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr14:24618000-24619200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:24618000-24619400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:24618000-24619600	Genic enhancers	Duodenum Mucosa	Duodenum
18	chr14:24618000-24619600	Weak transcription	Small Intestine	intestine
19	chr14:24618000-24620400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:24618000-24620800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr14:24618000-24621400	Strong transcription	NHLF	lung
22	chr14:24618000-24621800	Strong transcription	HSMM	muscle
23	chr14:24618000-24622200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:24618000-24622200	Strong transcription	Primary B cells from cord blood	blood
25	chr14:24618000-24622200	Strong transcription	A549	lung
26	chr14:24618000-24622400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:24618000-24622800	Strong transcription	Rectal Smooth Muscle	rectum
28	chr14:24618000-24626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:24618000-24627400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:24618000-24629000	Strong transcription	Placenta	Placenta
31	chr14:24618000-24629400	Strong transcription	Fetal Intestine Small	intestine
32	chr14:24618000-24630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:24618000-24630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:24618000-24630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:24618200-24619000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:24618200-24619200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:24618200-24619200	Genic enhancers	Brain Angular Gyrus	brain
38	chr14:24618200-24619200	Genic enhancers	Brain Germinal Matrix	brain
39	chr14:24618200-24619400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:24618200-24619600	Genic enhancers	HepG2	liver
41	chr14:24618200-24619800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr14:24618200-24620000	Genic enhancers	Dnd41	blood
43	chr14:24618200-24620400	Strong transcription	K562	blood
44	chr14:24618200-24620600	Weak transcription	Psoas Muscle	Psoas
45	chr14:24618200-24621200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr14:24618200-24621600	Strong transcription	Brain Substantia Nigra	brain
47	chr14:24618200-24622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:24618200-24622200	Strong transcription	Osteobl	bone
49	chr14:24618200-24622600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:24618200-24622600	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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