Variant report

Variant	rs4475804
Chromosome Location	chr1:85836466-85836467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493764	0.91[EUR][1000 genomes]
rs12402128	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1523993	0.90[EUR][1000 genomes]
rs35092233	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35294786	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35876501	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35956189	0.85[EUR][1000 genomes]
rs36062892	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61769490	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61783046	0.88[EUR][1000 genomes]
rs6659486	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6673833	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7540393	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
3	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
4	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
7	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
8	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:85827200-85836800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:85827600-85836800	Weak transcription	HepG2	liver
13	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85829400-85836800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:85829400-85838400	Weak transcription	Fetal Kidney	kidney
16	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:85831600-85836800	Weak transcription	Small Intestine	intestine
18	chr1:85831800-85836800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:85832200-85836600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:85832800-85838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:85832800-85838800	Weak transcription	HSMMtube	muscle
22	chr1:85832800-85839600	Weak transcription	HMEC	breast
23	chr1:85833000-85838400	Weak transcription	NHEK	skin
24	chr1:85833200-85836600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:85833200-85837000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85833400-85836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:85833400-85839000	Weak transcription	NH-A	brain
28	chr1:85834200-85836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:85834200-85839000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:85834400-85838000	Weak transcription	NHLF	lung
31	chr1:85834400-85838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
33	chr1:85834600-85836800	Weak transcription	HUVEC	blood vessel
34	chr1:85834600-85838400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:85834800-85838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
37	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:85835000-85837800	Weak transcription	Fetal Stomach	stomach
39	chr1:85835400-85836800	Weak transcription	A549	lung
40	chr1:85835400-85837400	Weak transcription	HSMM	muscle
41	chr1:85835600-85836600	Weak transcription	Liver	Liver
42	chr1:85835800-85836800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
44	chr1:85836000-85836800	Weak transcription	Fetal Lung	lung
45	chr1:85836000-85838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:85836000-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:85836000-85839000	Weak transcription	Psoas Muscle	Psoas
48	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:85836200-85837400	Enhancers	Fetal Brain Male	brain
50	chr1:85836200-85838800	Enhancers	Muscle Satellite Cultured Cells	--

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