Variant report

Variant	rs61524157
Chromosome Location	chr1:75227643-75227644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11163178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073318	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801184	0.87[AFR][1000 genomes]
rs41289224	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650283	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091667	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60212353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:75201400-75231800	Strong transcription	Dnd41	blood
3	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
5	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
9	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
11	chr1:75206200-75232800	Weak transcription	NHLF	lung
12	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
13	chr1:75206800-75233600	Weak transcription	Gastric	stomach
14	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
18	chr1:75214400-75228200	Strong transcription	Primary T cells from cord blood	blood
19	chr1:75214400-75232200	Strong transcription	Liver	Liver
20	chr1:75214800-75227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:75214800-75228200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:75214800-75228600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
25	chr1:75219200-75231000	Weak transcription	Lung	lung
26	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:75219800-75232600	Weak transcription	K562	blood
29	chr1:75220000-75230600	Weak transcription	Fetal Heart	heart
30	chr1:75220000-75231000	Weak transcription	Hela-S3	cervix
31	chr1:75220200-75228000	Strong transcription	Left Ventricle	heart
32	chr1:75220800-75230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:75221200-75229000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:75221400-75231800	Weak transcription	NHDF-Ad	bronchial
35	chr1:75221400-75232400	Weak transcription	NHEK	skin
36	chr1:75221400-75238000	Weak transcription	A549	lung
37	chr1:75221600-75229600	Weak transcription	NH-A	brain
38	chr1:75221600-75229800	Weak transcription	HSMMtube	muscle
39	chr1:75221600-75234600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:75221800-75227800	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:75222200-75230600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:75222600-75230200	Strong transcription	GM12878-XiMat	blood
45	chr1:75223000-75227800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:75223000-75227800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:75223000-75231200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:75223000-75231200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:75223000-75232600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:75223000-75232800	Weak transcription	Esophagus	oesophagus

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