Variant report

Variant	rs17114100
Chromosome Location	chr1:57023541-57023542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10888981	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11206846	1.00[CEU][hapmap]
rs1418521	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1572058	1.00[CEU][hapmap]
rs17114110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114113	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17114115	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17114126	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114127	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114133	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41446844	1.00[CEU][hapmap]
rs55927525	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58146416	0.89[EUR][1000 genomes]
rs59475580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72664369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664370	0.89[EUR][1000 genomes]
rs72664380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72664390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72664391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664392	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664395	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72666448	0.89[EUR][1000 genomes]
rs72666498	0.89[EUR][1000 genomes]
rs72668306	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
3	chr1:57014000-57026000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
5	chr1:57017400-57025000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
7	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
8	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:57017600-57025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57017800-57028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:57017800-57028600	Weak transcription	Pancreas	Pancrea
12	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:57019200-57023600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:57019200-57026000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:57019200-57027800	Weak transcription	Fetal Brain Female	brain
16	chr1:57019200-57028400	Weak transcription	Aorta	Aorta
17	chr1:57019200-57030400	Weak transcription	HSMM	muscle
18	chr1:57019400-57024000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:57019400-57027400	Weak transcription	Lung	lung
20	chr1:57019400-57027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:57019400-57030000	Weak transcription	Osteobl	bone
22	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:57019600-57023600	Weak transcription	Right Ventricle	heart
24	chr1:57019600-57027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:57019600-57027400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:57019600-57027800	Weak transcription	Fetal Brain Male	brain
27	chr1:57019600-57028000	Weak transcription	Fetal Lung	lung
28	chr1:57019600-57028400	Enhancers	Liver	Liver
29	chr1:57019800-57023800	Weak transcription	HepG2	liver
30	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:57020000-57028000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:57020000-57028800	Weak transcription	Stomach Mucosa	stomach
33	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
34	chr1:57020400-57029000	Weak transcription	Fetal Stomach	stomach
35	chr1:57020600-57023800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:57021000-57024200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:57021200-57027800	Weak transcription	NHLF	lung
38	chr1:57021400-57023600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:57021400-57028600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:57021400-57028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:57021800-57023600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:57021800-57023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:57021800-57027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:57022000-57023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:57022000-57025600	Weak transcription	Psoas Muscle	Psoas
47	chr1:57022000-57030400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:57022400-57023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:57022400-57027400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:57022600-57023600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links