Variant report

Variant	rs2278711
Chromosome Location	chr2:47085398-47085399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:47085141-47086244	IMR90	lung:	n/a	n/a
2	RAD21	chr2:47085114-47085666	IMR90	lung:	n/a	n/a
3	EP300	chr2:47084957-47086364	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr2:47085300-47085450	HPAF	blood vessel:	n/a	n/a
5	CEBPB	chr2:47085393-47085780	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr2:47085306-47085469	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr2:47084986-47086436	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:47085104-47085846	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr2:47085022-47086366	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr2:47085260-47085410	BJ	skin:	n/a	n/a
11	ATF1	chr2:47085358-47085889	K562	blood:	n/a	n/a
12	PBX3	chr2:47085126-47086044	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:47085165-47086111	ProgFib	skin:	n/a	n/a
14	CTCF	chr2:47085280-47085430	AG10803	skin:	n/a	n/a
15	POLR2A	chr2:47085363-47086174	U87	brain:	n/a	n/a
16	GATA3	chr2:47085034-47086375	SK-N-SH	brain:	n/a	n/a
17	MAFK	chr2:47085121-47086210	IMR90	lung:	n/a	n/a
18	NFIC	chr2:47084897-47086371	SK-N-SH	brain:	n/a	n/a
19	MAX	chr2:47085061-47086223	SK-N-SH	brain:	n/a	n/a
20	RXRA	chr2:47085068-47086277	SK-N-SH	brain:	n/a	n/a
21	RCOR1	chr2:47085393-47085803	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr2:47085143-47086075	IMR90	lung:	n/a	n/a
23	TEAD4	chr2:47085378-47085820	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47081481..47084069-chr2:47084141..47086048,2	K562	blood:
2	chr2:47084849..47086981-chr2:47087555..47090038,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016722.1.1-1	chr2:47085219-47086145	XLOC_001458
2	lnc-AC016722.1.1-1	chr2:47085225-47086145	XLOC_001458
3	lnc-AC016722.1.1-1	chr2:47085219-47086117	XLOC_001458
4	lnc-AC016722.1.1-1	chr2:47085225-47086117	XLOC_001458
5	lnc-AC016722.1.1-1	chr2:47085225-47086146	NONHSAT070529
6	lnc-AC016722.1.1-1	chr2:47085219-47085718	NONHSAT070532

No data

Variant related genes	Relation type
ENSG00000226548	TF binding region
ENSG00000239332	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10170987	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10177555	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10177751	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10183609	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125096	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125097	0.86[ASN][1000 genomes]
rs11687883	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11689551	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2166478	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278712	0.81[ASN][1000 genomes]
rs34392693	0.81[ASN][1000 genomes]
rs4953433	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759066	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935372	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS 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	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47077200-47086200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:47080800-47103600	Enhancers	Placenta	Placenta
3	chr2:47081200-47087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:47081400-47086400	Enhancers	HMEC	breast
5	chr2:47081400-47086600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:47081400-47087200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:47081400-47087800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
9	chr2:47081600-47085600	Enhancers	NH-A	brain
10	chr2:47081600-47087800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:47082200-47085400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
13	chr2:47083000-47086200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:47083200-47088600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:47083400-47086000	Enhancers	NHEK	skin
16	chr2:47083800-47086200	Enhancers	A549	lung
17	chr2:47084000-47086800	Weak transcription	Spleen	Spleen
18	chr2:47084000-47088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47084000-47088800	Weak transcription	Right Ventricle	heart
20	chr2:47084000-47093200	Weak transcription	Ovary	ovary
21	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
22	chr2:47084200-47085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:47084200-47087200	Enhancers	Osteobl	bone
24	chr2:47084200-47088400	Weak transcription	Left Ventricle	heart
25	chr2:47084600-47086000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47084800-47086000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:47084800-47086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:47084800-47086000	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:47084800-47087000	Enhancers	HSMM	muscle
30	chr2:47084800-47088200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:47085000-47085600	Enhancers	NHLF	lung
32	chr2:47085000-47085800	Enhancers	Fetal Intestine Small	intestine
33	chr2:47085000-47085800	Enhancers	Fetal Lung	lung
34	chr2:47085000-47085800	Enhancers	K562	blood
35	chr2:47085000-47086000	Enhancers	Hela-S3	cervix
36	chr2:47085000-47086800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:47085000-47086800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:47085000-47086800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:47085000-47087000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:47085000-47090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:47085200-47085400	Enhancers	Small Intestine	intestine
42	chr2:47085200-47085400	Enhancers	HUVEC	blood vessel
43	chr2:47085200-47085600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47085200-47085600	Enhancers	Fetal Thymus	thymus
45	chr2:47085200-47085600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:47085200-47085800	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:47085200-47085800	Enhancers	Lung	lung
48	chr2:47085200-47086000	Enhancers	Fetal Intestine Large	intestine
49	chr2:47085200-47086000	Enhancers	Fetal Stomach	stomach
50	chr2:47085200-47086000	Enhancers	Rectal Smooth Muscle	rectum

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