Variant report

Variant	rs17034601
Chromosome Location	chr1:10300981-10300982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10492970	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034591	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034615	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034627	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034655	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034660	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034716	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17034766	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	0.88[ASN][1000 genomes]
rs2297881	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	1.00[AMR][1000 genomes]
rs3819096	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274480	1.00[AMR][1000 genomes]
rs4329521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57661717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57963032	1.00[AMR][1000 genomes]
rs59211028	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61508659	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864193	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72864196	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865913	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865925	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865926	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865941	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865946	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72865961	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865963	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72865999	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72867415	0.88[AMR][1000 genomes]
rs72867421	0.88[AMR][1000 genomes]
rs72867431	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867433	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867438	1.00[AMR][1000 genomes]
rs72867441	1.00[AMR][1000 genomes]
rs72867455	1.00[AMR][1000 genomes]
rs72867467	1.00[AMR][1000 genomes]
rs72867469	1.00[AMR][1000 genomes]
rs72867481	0.83[AMR][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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
3	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
4	chr1:10278400-10302000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
6	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:10285400-10302400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
9	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:10286000-10301800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:10286000-10303000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:10286800-10301600	Weak transcription	Fetal Kidney	kidney
13	chr1:10286800-10305800	Weak transcription	Ovary	ovary
14	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
15	chr1:10289200-10301600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:10289200-10301800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:10289200-10317400	Weak transcription	Liver	Liver
18	chr1:10291000-10311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:10291000-10311800	Weak transcription	HMEC	breast
20	chr1:10291200-10311200	Weak transcription	HUVEC	blood vessel
21	chr1:10291400-10308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:10292000-10301200	Weak transcription	Esophagus	oesophagus
23	chr1:10292400-10309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:10292600-10303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
26	chr1:10293600-10302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:10293600-10311400	Weak transcription	NH-A	brain
28	chr1:10293800-10305200	Weak transcription	Fetal Intestine Large	intestine
29	chr1:10295000-10310600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:10295400-10311400	Weak transcription	Osteobl	bone
31	chr1:10295600-10302800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:10295600-10312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
34	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:10295800-10322000	Weak transcription	Lung	lung
36	chr1:10296200-10305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:10296200-10312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:10296200-10313600	Weak transcription	Fetal Brain Female	brain
39	chr1:10296400-10305200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:10296400-10309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:10296400-10310600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:10296400-10312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:10296400-10313200	Weak transcription	Fetal Stomach	stomach
44	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:10296600-10302200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:10297400-10305400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:10297400-10309400	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:10297400-10310400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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