Variant report

Variant	rs57914444
Chromosome Location	chr1:94060329-94060330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94059513-94060378	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:94059467-94060440	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-1	chr1:94059930-94060341	ENSG00000224093.1

Variant related genes	Relation type
BCAR3	TF binding region

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	0.94[ASN][1000 genomes]
rs236333	0.94[ASN][1000 genomes]
rs236335	0.95[ASN][1000 genomes]
rs3754189	0.88[EUR][1000 genomes]
rs3767973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767975	0.89[ASN][1000 genomes]
rs3767976	0.91[ASN][1000 genomes]
rs3767977	0.91[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57466479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59777284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.92[ASN][1000 genomes]
rs7519939	0.94[ASN][1000 genomes]
rs7524368	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:93 , 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	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:94053600-94063000	Genic enhancers	Muscle Satellite Cultured Cells	--
5	chr1:94054400-94061000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:94054600-94062000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:94055800-94061000	Weak transcription	Aorta	Aorta
8	chr1:94056000-94066000	Weak transcription	Ovary	ovary
9	chr1:94057200-94060400	Enhancers	Left Ventricle	heart
10	chr1:94057200-94060400	Enhancers	Psoas Muscle	Psoas
11	chr1:94057400-94068000	Genic enhancers	HSMM	muscle
12	chr1:94057400-94069200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:94057400-94071000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:94057600-94061000	Enhancers	Fetal Muscle Trunk	muscle
15	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
16	chr1:94057800-94061800	Enhancers	Placenta	Placenta
17	chr1:94058000-94062000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:94058000-94062800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:94058000-94062800	Genic enhancers	NHEK	skin
20	chr1:94058000-94066600	Enhancers	Adipose Nuclei	Adipose
21	chr1:94058000-94066600	Enhancers	Fetal Muscle Leg	muscle
22	chr1:94058200-94060800	Weak transcription	NH-A	brain
23	chr1:94058200-94061400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:94058200-94064600	Weak transcription	HUVEC	blood vessel
25	chr1:94058200-94065000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:94058400-94060400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:94058400-94061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:94058400-94062800	Enhancers	A549	lung
29	chr1:94058400-94063200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:94058400-94065200	Enhancers	NHDF-Ad	bronchial
31	chr1:94058400-94068800	Weak transcription	Small Intestine	intestine
32	chr1:94058600-94060400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:94058600-94060800	Enhancers	Stomach Mucosa	stomach
34	chr1:94058600-94061000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:94058600-94064600	Enhancers	NHLF	lung
36	chr1:94058600-94068000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:94058800-94063600	Weak transcription	Spleen	Spleen
38	chr1:94058800-94065600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:94059000-94060400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:94059000-94060400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:94059000-94061000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:94059000-94061200	Enhancers	Fetal Intestine Large	intestine
43	chr1:94059000-94063400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:94059200-94060400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:94059400-94060400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:94059400-94060400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:94059400-94060400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:94059400-94060400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:94059400-94060400	Genic enhancers	Hela-S3	cervix
50	chr1:94059400-94061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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