Variant report

Variant	rs74101184
Chromosome Location	chr1:92993528-92993529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10159031	0.89[EUR][1000 genomes]
rs10465755	0.89[EUR][1000 genomes]
rs12563400	0.89[EUR][1000 genomes]
rs12564911	0.89[EUR][1000 genomes]
rs12565259	0.89[EUR][1000 genomes]
rs2151575	0.89[EUR][1000 genomes]
rs41286805	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41296171	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41313389	0.87[EUR][1000 genomes]
rs56144352	0.89[EUR][1000 genomes]
rs56172716	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57177520	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57782462	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59278612	0.87[EUR][1000 genomes]
rs59459727	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60265386	0.87[EUR][1000 genomes]
rs60550001	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60755573	0.87[EUR][1000 genomes]
rs60842823	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60933677	0.87[EUR][1000 genomes]
rs61141829	0.87[EUR][1000 genomes]
rs61185080	0.87[EUR][1000 genomes]
rs61259042	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61288876	0.89[EUR][1000 genomes]
rs61410146	0.87[EUR][1000 genomes]
rs61457032	0.89[EUR][1000 genomes]
rs6661028	0.87[EUR][1000 genomes]
rs6681213	0.87[EUR][1000 genomes]
rs6695475	0.87[EUR][1000 genomes]
rs6702975	0.87[EUR][1000 genomes]
rs6704484	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72958774	0.87[EUR][1000 genomes]
rs72958781	0.87[EUR][1000 genomes]
rs72958796	0.87[EUR][1000 genomes]
rs72960815	0.87[EUR][1000 genomes]
rs72960831	0.87[EUR][1000 genomes]
rs72960835	0.87[EUR][1000 genomes]
rs72960847	0.87[EUR][1000 genomes]
rs72960860	0.87[EUR][1000 genomes]
rs72960870	0.87[EUR][1000 genomes]
rs72962640	0.87[EUR][1000 genomes]
rs74101123	0.87[EUR][1000 genomes]
rs74101131	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101133	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101146	0.87[EUR][1000 genomes]
rs74101152	0.87[EUR][1000 genomes]
rs74101157	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs74101186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101190	1.00[EUR][1000 genomes]
rs74101199	0.89[EUR][1000 genomes]
rs74101310	0.82[AMR][1000 genomes]
rs74102903	0.85[AFR][1000 genomes]
rs74102906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102921	0.89[EUR][1000 genomes]
rs74102923	0.89[EUR][1000 genomes]
rs74102948	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102953	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513631	0.87[EUR][1000 genomes]
rs7520555	0.87[EUR][1000 genomes]
rs7525174	0.87[EUR][1000 genomes]
rs7529971	0.87[EUR][1000 genomes]
rs7534750	0.87[EUR][1000 genomes]
rs7535171	0.89[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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:92969800-92996800	Weak transcription	NH-A	brain
4	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92972600-93013400	Weak transcription	Ovary	ovary
6	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
9	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
11	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:92977800-92995000	Weak transcription	Lung	lung
14	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:92981800-93033400	Weak transcription	NHEK	skin
18	chr1:92983400-92998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
20	chr1:92986800-93002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:92990800-93003800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:92991800-92994400	Strong transcription	Liver	Liver
23	chr1:92992000-92993800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:92992000-92994000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:92992200-92993800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:92992200-92994200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:92993000-92994600	Strong transcription	Placenta	Placenta
28	chr1:92993000-93003600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:92993000-93007400	Weak transcription	Left Ventricle	heart
30	chr1:92993400-93002200	Weak transcription	Primary monocytes fromperipheralblood	blood

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