Variant report

Variant	rs71414556
Chromosome Location	chr2:55451066-55451067
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55450357-55451457	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr2:55450462-55451068	GM18951	blood:	n/a	n/a
3	POLR2A	chr2:55450364-55451326	MCF-7	breast:	n/a	n/a
4	E2F6	chr2:55450484-55451617	K562	blood:	n/a	chr2:55450770-55450784 chr2:55450636-55450645
5	ELF1	chr2:55450454-55451068	GM12878	blood:	n/a	n/a
6	NR2F2	chr2:55450103-55451423	K562	blood:	n/a	n/a
7	POLR2A	chr2:55450342-55451095	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:55450419-55451098	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:55450429-55451075	GM19099	blood:	n/a	n/a
10	POLR2A	chr2:55450412-55451078	K562	blood:	n/a	n/a
11	CHD2	chr2:55450877-55451076	K562	blood:	n/a	n/a
12	POLR2A	chr2:55450417-55451164	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:55450382-55451167	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:55450387-55451069	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:55450480-55451104	K562	blood:	n/a	n/a
16	POLR2A	chr2:55450336-55451767	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:55450423-55451080	K562	blood:	n/a	n/a
18	PML	chr2:55450369-55451079	GM12878	blood:	n/a	n/a
19	PAX5	chr2:55450525-55451090	GM12878	blood:	n/a	n/a
20	ZNF384	chr2:55450564-55451111	K562	blood:	n/a	n/a
21	POLR2A	chr2:55450400-55451596	K562	blood:	n/a	n/a
22	POLR2A	chr2:55450359-55451100	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:55450376-55451123	GM12891	blood:	n/a	n/a
24	PAX5	chr2:55450434-55451080	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:55450395-55451226	K562	blood:	n/a	n/a
26	POLR2A	chr2:55450391-55451089	GM18505	blood:	n/a	n/a
27	POLR2A	chr2:55450422-55451085	K562	blood:	n/a	n/a
28	POLR2A	chr2:55450412-55451086	MCF-7	breast:	n/a	n/a
29	PAX5	chr2:55450745-55451092	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:55450406-55451077	GM12891	blood:	n/a	n/a
31	POLR2A	chr2:55450428-55451077	A549	lung:	n/a	n/a
32	POLR2A	chr2:55450428-55451090	GM19193	blood:	n/a	n/a
33	HEY1	chr2:55450408-55451078	K562	blood:	n/a	n/a
34	ZNF384	chr2:55450707-55451082	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:55450387-55451115	GM12892	blood:	n/a	n/a
36	HA-E2F1	chr2:55450255-55451092	MCF-7	breast:	n/a	chr2:55450770-55450784 chr2:55450636-55450645

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:55449257..55451239-chr2:55511673..55514610,2	MCF-7	breast:
2	chr2:55276251..55278794-chr2:55450594..55452106,2	MCF-7	breast:
3	chr2:55435664..55437797-chr2:55450159..55452087,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227799	TF binding region
ENSG00000206964	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1134722	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686766	0.84[EUR][1000 genomes]
rs11686912	0.84[EUR][1000 genomes]
rs11687876	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12989854	0.84[EUR][1000 genomes]
rs12995548	0.92[EUR][1000 genomes]
rs13000786	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003020	0.94[EUR][1000 genomes]
rs13012567	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13014752	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017468	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032294	0.81[EUR][1000 genomes]
rs2028139	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34447956	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35141050	0.84[EUR][1000 genomes]
rs35183885	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227659	0.84[EUR][1000 genomes]
rs35700883	0.84[EUR][1000 genomes]
rs36121000	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4318424	0.84[EUR][1000 genomes]
rs6742306	0.92[EUR][1000 genomes]
rs6743339	0.86[EUR][1000 genomes]
rs6747466	0.92[EUR][1000 genomes]
rs71414544	0.84[EUR][1000 genomes]
rs71414545	0.84[EUR][1000 genomes]
rs71414546	0.84[EUR][1000 genomes]
rs71414547	0.84[EUR][1000 genomes]
rs71414548	0.84[EUR][1000 genomes]
rs71414549	0.81[EUR][1000 genomes]
rs71414557	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55424600-55451200	Weak transcription	HepG2	liver
2	chr2:55432000-55451200	Weak transcription	Dnd41	blood
3	chr2:55449400-55451200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55450000-55451200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:55450000-55451200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:55450000-55451200	Active TSS	Fetal Kidney	kidney
7	chr2:55450000-55451400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:55450000-55451400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:55450000-55451400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:55450000-55451400	Active TSS	Duodenum Mucosa	Duodenum
11	chr2:55450000-55451400	Active TSS	A549	lung
12	chr2:55450000-55451600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:55450200-55451200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:55450200-55451200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55450200-55451200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr2:55450200-55451200	Active TSS	Brain Germinal Matrix	brain
17	chr2:55450200-55451200	Active TSS	Colonic Mucosa	Colon
18	chr2:55450200-55451200	Active TSS	Fetal Muscle Trunk	muscle
19	chr2:55450200-55451200	Active TSS	Placenta	Placenta
20	chr2:55450200-55451200	Active TSS	Thymus	Thymus
21	chr2:55450200-55451200	Active TSS	K562	blood
22	chr2:55450200-55451400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:55450200-55451400	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:55450200-55451400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:55450200-55451600	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:55450400-55451200	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr2:55450400-55451200	Active TSS	Primary T cells from cord blood	blood
28	chr2:55450400-55451200	Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr2:55450400-55451200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:55450400-55451200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:55450400-55451200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:55450400-55451200	Active TSS	Adipose Nuclei	Adipose
33	chr2:55450400-55451200	Active TSS	Brain Hippocampus Middle	brain
34	chr2:55450400-55451200	Active TSS	Brain Substantia Nigra	brain
35	chr2:55450400-55451200	Active TSS	Fetal Intestine Small	intestine
36	chr2:55450400-55451200	Active TSS	Fetal Lung	lung
37	chr2:55450400-55451200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:55450400-55451200	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:55450400-55451400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:55450400-55451400	Active TSS	Brain Anterior Caudate	brain
41	chr2:55450400-55451400	Active TSS	NHEK	skin
42	chr2:55450600-55451200	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:55450600-55451200	Active TSS	Spleen	Spleen
44	chr2:55450600-55451400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:55450600-55451600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:55450600-55452400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:55450800-55451200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:55450800-55451200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:55450800-55452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:55451000-55451200	Weak transcription	H1 Cell Line	embryonic stem cell

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