Variant report

Variant	rs233049
Chromosome Location	chr1:85832114-85832115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85827968..85830581-chr1:85830852..85832881,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs233045	0.83[AFR][1000 genomes]
rs233048	1.00[AFR][1000 genomes]
rs233056	0.95[AFR][1000 genomes]
rs233065	0.95[AFR][1000 genomes]
rs233073	0.95[AFR][1000 genomes]
rs233076	0.95[AFR][1000 genomes]
rs233077	0.85[AFR][1000 genomes]
rs233082	1.00[AFR][1000 genomes]
rs233089	1.00[AFR][1000 genomes]
rs233092	1.00[AFR][1000 genomes]
rs233096	1.00[AFR][1000 genomes]
rs233110	0.84[AFR][1000 genomes]
rs233123	0.89[AFR][1000 genomes]
rs414484	0.95[AFR][1000 genomes]
rs641864	0.89[AFR][1000 genomes]
rs6685360	0.89[AFR][1000 genomes]
rs684569	0.89[AFR][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:47 , 50 per page) page: 1

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	chr1:85824400-85833800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
8	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
9	chr1:85827000-85833800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:85827000-85834600	Enhancers	NHDF-Ad	bronchial
11	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:85827200-85832200	Weak transcription	HMEC	breast
13	chr1:85827200-85836800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:85827600-85836800	Weak transcription	HepG2	liver
17	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:85829400-85832600	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:85829400-85836800	Weak transcription	Brain Anterior Caudate	brain
20	chr1:85829400-85838400	Weak transcription	Fetal Kidney	kidney
21	chr1:85829600-85832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85829600-85832600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:85829800-85833200	Weak transcription	Fetal Stomach	stomach
25	chr1:85830000-85835600	Weak transcription	Psoas Muscle	Psoas
26	chr1:85830200-85832400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:85830400-85833600	Genic enhancers	Osteobl	bone
28	chr1:85830800-85833000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:85830800-85834200	Genic enhancers	HSMM	muscle
30	chr1:85831000-85832600	Enhancers	Liver	Liver
31	chr1:85831000-85832800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:85831200-85833200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:85831400-85833000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:85831400-85834600	Enhancers	HUVEC	blood vessel
35	chr1:85831600-85832800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:85831600-85832800	Enhancers	HSMMtube	muscle
37	chr1:85831600-85833000	Enhancers	NHEK	skin
38	chr1:85831600-85833400	Enhancers	NH-A	brain
39	chr1:85831600-85834400	Enhancers	NHLF	lung
40	chr1:85831600-85836800	Weak transcription	Small Intestine	intestine
41	chr1:85831800-85832400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:85831800-85832800	Enhancers	A549	lung
43	chr1:85831800-85833200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:85831800-85836800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:85832000-85832400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:85832000-85832800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:85832000-85833200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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