Variant report

Variant	rs56172716
Chromosome Location	chr1:93101184-93101185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

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	0.87[EUR][1000 genomes]
rs41296171	0.87[EUR][1000 genomes]
rs56144352	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56406716	0.85[AFR][1000 genomes]
rs56764656	0.84[AMR][1000 genomes]
rs57782462	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59459727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59552478	0.84[AMR][1000 genomes]
rs60550001	0.87[EUR][1000 genomes]
rs60842823	1.00[AMR][1000 genomes]
rs60933677	0.87[EUR][1000 genomes]
rs61259042	1.00[AMR][1000 genomes]
rs61288876	0.89[EUR][1000 genomes]
rs61457032	0.89[EUR][1000 genomes]
rs6661028	0.87[EUR][1000 genomes]
rs6681213	0.87[EUR][1000 genomes]
rs6702975	0.87[EUR][1000 genomes]
rs6704484	0.87[EUR][1000 genomes]
rs72960860	0.87[EUR][1000 genomes]
rs72960870	0.87[EUR][1000 genomes]
rs72962640	0.87[EUR][1000 genomes]
rs74101146	0.87[EUR][1000 genomes]
rs74101152	0.87[EUR][1000 genomes]
rs74101157	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs74101184	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101186	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101190	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101199	0.89[EUR][1000 genomes]
rs74101310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101354	0.91[AMR][1000 genomes]
rs74101356	0.91[AMR][1000 genomes]
rs74101362	0.91[AMR][1000 genomes]
rs74102903	0.85[AFR][1000 genomes]
rs74102906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102921	0.89[EUR][1000 genomes]
rs74102923	0.89[EUR][1000 genomes]
rs74102948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513631	0.87[EUR][1000 genomes]
rs7534750	0.87[EUR][1000 genomes]
rs7535171	0.89[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	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93052000-93119400	Weak transcription	NHEK	skin
2	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:93062000-93118800	Weak transcription	HMEC	breast
4	chr1:93065200-93118600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:93065800-93119600	Weak transcription	NH-A	brain
6	chr1:93066800-93103000	Weak transcription	NHDF-Ad	bronchial
7	chr1:93066800-93114600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:93068600-93112600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:93068800-93103200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:93069400-93104600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:93069600-93119600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:93082400-93101200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:93082600-93108600	Weak transcription	Psoas Muscle	Psoas
14	chr1:93083600-93106400	Weak transcription	Pancreas	Pancrea
15	chr1:93084200-93104000	Weak transcription	Spleen	Spleen
16	chr1:93089800-93114200	Weak transcription	HSMM	muscle
17	chr1:93090000-93101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:93098400-93205400	Weak transcription	NHLF	lung
19	chr1:93100000-93101400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:93100000-93101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:93100200-93101400	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr1:93100200-93101400	Strong transcription	Right Ventricle	heart
23	chr1:93100200-93101600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:93100200-93101600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:93100200-93101800	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:93100200-93102000	Strong transcription	Adipose Nuclei	Adipose
27	chr1:93100200-93102000	Strong transcription	Fetal Intestine Large	intestine
28	chr1:93100200-93102000	Strong transcription	Fetal Lung	lung
29	chr1:93100200-93102000	Strong transcription	Placenta	Placenta
30	chr1:93100400-93101400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:93100400-93101400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr1:93100400-93101600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:93100400-93101600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:93100400-93102000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:93100400-93102000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:93100600-93101200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr1:93100600-93101200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr1:93100600-93101200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:93100600-93101400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:93100600-93101400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:93100600-93101400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:93100600-93101400	Strong transcription	Gastric	stomach
43	chr1:93100600-93101400	Strong transcription	Lung	lung
44	chr1:93100600-93101600	Strong transcription	Colonic Mucosa	Colon
45	chr1:93100600-93102000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:93100600-93102000	Strong transcription	Liver	Liver
47	chr1:93100600-93102200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:93100600-93118600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:93100800-93101200	ZNF genes & repeats	Aorta	Aorta
50	chr1:93100800-93101200	ZNF genes & repeats	Esophagus	oesophagus

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