Variant report

Variant	rs74101653
Chromosome Location	chr1:94101570-94101571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17110195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17110252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17110298	0.89[EUR][1000 genomes]
rs236268	0.96[EUR][1000 genomes]
rs56072327	0.92[EUR][1000 genomes]
rs56369705	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57866435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59232020	0.89[EUR][1000 genomes]
rs74101645	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74101646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74101655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101658	0.92[EUR][1000 genomes]
rs74101664	0.92[EUR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
3	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:94088600-94118800	Weak transcription	Gastric	stomach
6	chr1:94091600-94106600	Weak transcription	Aorta	Aorta
7	chr1:94091600-94107600	Weak transcription	Ovary	ovary
8	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
9	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
10	chr1:94095000-94101600	Weak transcription	HSMMtube	muscle
11	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:94096800-94101600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:94097400-94108600	Strong transcription	NHEK	skin
15	chr1:94097600-94101600	Strong transcription	HSMM	muscle
16	chr1:94097800-94101600	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr1:94097800-94106200	Strong transcription	HMEC	breast
18	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:94098000-94103200	Weak transcription	HepG2	liver
20	chr1:94098000-94104600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94098000-94104600	Strong transcription	Hela-S3	cervix
22	chr1:94099400-94103800	Strong transcription	A549	lung
23	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
24	chr1:94100400-94102000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:94100400-94102400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:94100400-94102600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:94100400-94102800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:94100400-94103000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:94100400-94103000	Enhancers	Brain Anterior Caudate	brain
30	chr1:94100400-94103400	Strong transcription	Osteobl	bone
31	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:94100600-94101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:94100600-94102000	Strong transcription	NHLF	lung
35	chr1:94100600-94102400	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:94100600-94102600	Enhancers	Brain Substantia Nigra	brain
37	chr1:94100800-94102600	Strong transcription	Fetal Intestine Small	intestine
38	chr1:94101000-94101600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:94101000-94101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:94101000-94101600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:94101000-94101800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:94101000-94101800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:94101000-94102000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:94101000-94102000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:94101000-94102000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:94101000-94102000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:94101000-94102200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:94101000-94102600	Enhancers	Brain Hippocampus Middle	brain
49	chr1:94101000-94102800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr1:94101200-94101600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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