Variant report

Variant	rs2582573
Chromosome Location	chr14:105456388-105456389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105456265-105456720	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr14:105456277-105456593	K562	blood:	n/a	n/a
3	POLR2A	chr14:105456381-105456469	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:105456119-105456652	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr14:105455600-105456628	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:105456361-105456629	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:105456326-105456484	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
2	chr14:105451467..105455477-chr14:105455742..105459304,4	K562	blood:
3	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf79	TF binding region
ENSG00000170779	Chromatin interaction
ENSG00000140104	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10134401	1.00[EUR][1000 genomes]
rs10136020	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846421	0.95[AFR][1000 genomes]
rs11850764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850814	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1583854	0.97[AFR][1000 genomes]
rs1866828	1.00[EUR][1000 genomes]
rs1982232	1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2582566	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2582571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2582572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2582576	1.00[EUR][1000 genomes]
rs2819465	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2819466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2819467	0.83[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes]
rs28844034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4559849	1.00[EUR][1000 genomes]
rs56975679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57999316	1.00[EUR][1000 genomes]
rs60187408	1.00[EUR][1000 genomes]
rs60541549	1.00[EUR][1000 genomes]
rs61557687	1.00[EUR][1000 genomes]
rs6576070	1.00[EUR][1000 genomes]
rs7141355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143587	1.00[EUR][1000 genomes]
rs7150468	1.00[MEX][hapmap]
rs73363371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363379	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8008799	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2582573	MGC23270	cis	lymphoblastoid	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105452600-105458200	Weak transcription	Aorta	Aorta
2	chr14:105452800-105472800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:105452800-105473600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:105452800-105473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:105453000-105457800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:105453000-105458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:105453200-105458000	Weak transcription	HSMMtube	muscle
8	chr14:105453200-105459400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:105453200-105465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:105453200-105465600	Weak transcription	NH-A	brain
11	chr14:105453200-105473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:105453200-105475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:105453200-105485400	Weak transcription	Fetal Kidney	kidney
14	chr14:105453400-105456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:105453400-105456800	Weak transcription	A549	lung
16	chr14:105453400-105457000	Weak transcription	Osteobl	bone
17	chr14:105453400-105457600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:105453400-105457600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:105453400-105457600	Weak transcription	Fetal Lung	lung
20	chr14:105453400-105457800	Weak transcription	Adipose Nuclei	Adipose
21	chr14:105453400-105457800	Weak transcription	Liver	Liver
22	chr14:105453400-105457800	Weak transcription	Brain Angular Gyrus	brain
23	chr14:105453400-105457800	Weak transcription	Gastric	stomach
24	chr14:105453400-105458000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:105453400-105458000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:105453400-105458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:105453400-105458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:105453400-105458000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:105453400-105458200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:105453400-105458400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:105453400-105459000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:105453400-105459400	Weak transcription	Left Ventricle	heart
33	chr14:105453400-105459600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:105453400-105460200	Weak transcription	Fetal Heart	heart
35	chr14:105453400-105460400	Weak transcription	Right Atrium	heart
36	chr14:105453400-105464200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:105453400-105472200	Weak transcription	Dnd41	blood
38	chr14:105453400-105472800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:105453400-105473600	Weak transcription	Colonic Mucosa	Colon
40	chr14:105453400-105474000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:105453400-105475600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:105453400-105475800	Weak transcription	K562	blood
43	chr14:105453400-105476200	Weak transcription	NHDF-Ad	bronchial
44	chr14:105453400-105479400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:105453600-105456800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:105453600-105456800	Weak transcription	NHEK	skin
47	chr14:105453600-105457800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:105453600-105457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:105453600-105458200	Weak transcription	Right Ventricle	heart
50	chr14:105453600-105458600	Weak transcription	Brain Hippocampus Middle	brain

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