Variant report

Variant	rs17114113
Chromosome Location	chr1:57027945-57027946
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];0.98[ASN][1000 genomes]
rs11206846	1.00[CEU][hapmap]
rs1418521	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572058	1.00[CEU][hapmap]
rs17114100	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17114110	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17114115	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114126	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17114127	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17114133	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41446844	1.00[CEU][hapmap]
rs55927525	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58146416	0.89[EUR][1000 genomes]
rs59475580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs72664390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72664392	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72664395	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:83 , 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	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
4	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
5	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
6	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:57017800-57028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:57017800-57028600	Weak transcription	Pancreas	Pancrea
9	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:57019200-57028400	Weak transcription	Aorta	Aorta
11	chr1:57019200-57030400	Weak transcription	HSMM	muscle
12	chr1:57019400-57030000	Weak transcription	Osteobl	bone
13	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:57019600-57028000	Weak transcription	Fetal Lung	lung
15	chr1:57019600-57028400	Enhancers	Liver	Liver
16	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:57020000-57028000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:57020000-57028800	Weak transcription	Stomach Mucosa	stomach
19	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
20	chr1:57020400-57029000	Weak transcription	Fetal Stomach	stomach
21	chr1:57021400-57028600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:57021400-57028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:57022000-57030400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:57022600-57028600	Weak transcription	Spleen	Spleen
26	chr1:57023800-57028600	Enhancers	HepG2	liver
27	chr1:57023800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:57023800-57033000	Enhancers	Brain Hippocampus Middle	brain
29	chr1:57024200-57028000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:57024200-57028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:57024200-57029000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:57024200-57030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:57024200-57030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:57024200-57030600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:57024200-57030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:57025000-57028200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:57025400-57028600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:57025600-57029800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:57025600-57030600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:57026000-57028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:57026000-57033200	Enhancers	Fetal Intestine Large	intestine
43	chr1:57026200-57032200	Enhancers	Ovary	ovary
44	chr1:57026200-57033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:57026400-57028400	Weak transcription	Right Atrium	heart
46	chr1:57026400-57029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:57026800-57033000	Enhancers	Fetal Intestine Small	intestine
48	chr1:57027000-57028000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:57027000-57028400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:57027000-57034200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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