Variant report

Variant	rs4982867
Chromosome Location	chr14:24654590-24654591
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24654533-24654918	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24653234-24655959	A549	lung:	n/a	n/a
3	POLR2A	chr14:24653698-24654907	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:24643556-24655637	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:24654332-24654665	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:24654058-24654774	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:24649433-24654781	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:24654581-24654600	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24654137-24654768	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24645466-24654781	GM12892	blood:	n/a	n/a
11	POLR2A	chr14:24653180-24655702	GM12891	blood:	n/a	n/a
12	POLR2A	chr14:24653166-24654612	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:24654391-24654594	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:24645535-24654723	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:24645580-24654794	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
2	chr14:24651928..24654736-chr14:24673769..24676692,2	MCF-7	breast:
3	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
4	chr14:24582819..24585430-chr14:24652539..24655541,3	MCF-7	breast:
5	chr14:24562605..24564196-chr14:24654231..24655795,2	K562	blood:

No data

Variant related genes	Relation type
IPO4	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1061838	0.94[JPT][hapmap]
rs11547058	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1543518	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17101730	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17256713	1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2236350	1.00[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2295320	1.00[MEX][hapmap]
rs3742502	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759622	1.00[MEX][hapmap]
rs45484197	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4981496	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7145633	0.95[JPT][hapmap]
rs72694304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs743272	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]
rs8009671	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8019327	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr14:24641400-24656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:24641600-24656600	Strong transcription	Placenta	Placenta
3	chr14:24641600-24656800	Weak transcription	Right Atrium	heart
4	chr14:24641800-24656400	Strong transcription	Adipose Nuclei	Adipose
5	chr14:24642000-24656200	Strong transcription	Lung	lung
6	chr14:24642200-24654600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:24642200-24656000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:24642200-24656000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:24642400-24656400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:24642600-24655200	Strong transcription	Spleen	Spleen
11	chr14:24642600-24656200	Strong transcription	Fetal Stomach	stomach
12	chr14:24642800-24654600	Weak transcription	Fetal Kidney	kidney
13	chr14:24643000-24656400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:24643400-24656400	Strong transcription	Primary T cells from cord blood	blood
15	chr14:24643400-24656400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:24643400-24656800	Strong transcription	Brain Germinal Matrix	brain
17	chr14:24643800-24656200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:24643800-24656200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:24643800-24656200	Strong transcription	Gastric	stomach
20	chr14:24643800-24656600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:24643800-24656600	Weak transcription	Fetal Brain Male	brain
22	chr14:24644000-24656200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:24644000-24656600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24644000-24656800	Strong transcription	Thymus	Thymus
25	chr14:24644200-24656200	Strong transcription	Fetal Brain Female	brain
26	chr14:24644200-24656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:24644400-24656400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:24644400-24656800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:24644800-24656000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:24644800-24656600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:24645000-24656200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:24645400-24656400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:24645400-24656600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:24645600-24656000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:24645600-24656600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:24645600-24656600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:24645600-24657000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:24645600-24657000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:24645800-24655800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr14:24645800-24656200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:24645800-24656200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:24645800-24656200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:24645800-24656200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:24645800-24656400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:24645800-24656400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr14:24645800-24656600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:24645800-24656600	Strong transcription	Colonic Mucosa	Colon
48	chr14:24645800-24656800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:24646000-24656000	Strong transcription	HepG2	liver
50	chr14:24646000-24656200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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