Variant report

Variant	rs57466479
Chromosome Location	chr1:94065477-94065478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94059872..94062115-chr1:94064025..94065838,2	K562	blood:
2	chr1:94060637..94062992-chr1:94064105..94066678,2	MCF-7	breast:
3	chr1:93913398..93916275-chr1:94065305..94067753,2	MCF-7	breast:
4	chr1:94048697..94050277-chr1:94063385..94066022,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-1	chr1:94064718-94065587	NONHSAT004537

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction
ENSG00000224093	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12566373	0.82[EUR][1000 genomes]
rs12568405	0.94[EUR][1000 genomes]
rs1618866	0.94[EUR][1000 genomes]
rs17110076	0.88[EUR][1000 genomes]
rs17110124	0.91[ASN][1000 genomes]
rs1740068	0.94[EUR][1000 genomes]
rs182913	0.94[EUR][1000 genomes]
rs183538	0.88[EUR][1000 genomes]
rs2281474	0.98[ASN][1000 genomes]
rs2295330	0.88[EUR][1000 genomes]
rs236266	0.94[EUR][1000 genomes]
rs236274	0.94[EUR][1000 genomes]
rs236275	0.94[EUR][1000 genomes]
rs236278	0.94[EUR][1000 genomes]
rs236281	0.94[EUR][1000 genomes]
rs236322	0.89[ASN][1000 genomes]
rs236323	0.89[ASN][1000 genomes]
rs236326	0.89[ASN][1000 genomes]
rs236329	0.92[ASN][1000 genomes]
rs236330	0.91[ASN][1000 genomes]
rs236331	0.94[ASN][1000 genomes]
rs236332	0.91[ASN][1000 genomes]
rs236333	0.91[ASN][1000 genomes]
rs236335	0.98[ASN][1000 genomes]
rs3754189	0.88[EUR][1000 genomes]
rs3767973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767975	0.89[ASN][1000 genomes]
rs3767976	0.94[ASN][1000 genomes]
rs3767977	0.94[ASN][1000 genomes]
rs3767979	0.94[EUR][1000 genomes]
rs3767981	0.94[EUR][1000 genomes]
rs3767987	0.94[EUR][1000 genomes]
rs3767991	0.94[EUR][1000 genomes]
rs57012808	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57914444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59777284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60159857	0.94[EUR][1000 genomes]
rs6541380	0.81[EUR][1000 genomes]
rs6661488	0.89[ASN][1000 genomes]
rs6671749	0.94[ASN][1000 genomes]
rs6674143	0.88[EUR][1000 genomes]
rs6692801	0.89[ASN][1000 genomes]
rs6699020	0.81[EUR][1000 genomes]
rs7516400	0.89[ASN][1000 genomes]
rs7518795	0.95[ASN][1000 genomes]
rs7519939	0.94[ASN][1000 genomes]
rs7524368	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551964	0.94[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94056000-94066000	Weak transcription	Ovary	ovary
3	chr1:94057400-94068000	Genic enhancers	HSMM	muscle
4	chr1:94057400-94069200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:94057400-94071000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:94058000-94066600	Enhancers	Adipose Nuclei	Adipose
8	chr1:94058000-94066600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:94058400-94068800	Weak transcription	Small Intestine	intestine
10	chr1:94058600-94068000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:94058800-94065600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:94059600-94066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94059600-94066800	Enhancers	Brain Anterior Caudate	brain
14	chr1:94060200-94065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:94060200-94065800	Weak transcription	Gastric	stomach
16	chr1:94060200-94066000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:94060200-94066600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
19	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:94061400-94066600	Enhancers	Psoas Muscle	Psoas
21	chr1:94061400-94067200	Enhancers	Right Ventricle	heart
22	chr1:94061600-94066200	Weak transcription	Stomach Mucosa	stomach
23	chr1:94061800-94066000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:94061800-94066600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:94062000-94067200	Enhancers	Left Ventricle	heart
26	chr1:94062400-94066400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:94062400-94066600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:94062400-94066600	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:94062400-94066600	Enhancers	Placenta	Placenta
30	chr1:94062400-94067400	Enhancers	HMEC	breast
31	chr1:94062600-94066600	Strong transcription	Fetal Intestine Small	intestine
32	chr1:94062600-94070000	Weak transcription	Osteobl	bone
33	chr1:94062600-94073000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:94062800-94066400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:94063200-94066200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:94063200-94066400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:94063200-94066600	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:94063600-94069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:94063800-94066600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:94064000-94065800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:94064200-94066000	Weak transcription	Liver	Liver
42	chr1:94064200-94066200	Weak transcription	Spleen	Spleen
43	chr1:94064200-94067600	Genic enhancers	NHEK	skin
44	chr1:94064200-94069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:94064400-94065600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:94064400-94066000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:94064400-94066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:94064400-94066200	Weak transcription	Pancreas	Pancrea
49	chr1:94064400-94067400	Genic enhancers	HepG2	liver
50	chr1:94064400-94073800	Weak transcription	Aorta	Aorta

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