Variant report

Variant	rs2729563
Chromosome Location	chr7:111848379-111848380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10266365	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12705816	0.81[ASN][1000 genomes]
rs4132325	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4464880	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4640999	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966390	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6974364	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757195	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757196	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7792159	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7811283	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111843600-111848400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:111847600-111850600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:111847600-111851200	Weak transcription	Ovary	ovary
5	chr7:111847600-111851200	Weak transcription	Right Ventricle	heart
6	chr7:111847600-111851200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:111847600-111851400	Weak transcription	Pancreas	Pancrea
8	chr7:111847600-111851400	Weak transcription	Psoas Muscle	Psoas
9	chr7:111847600-111851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:111847600-111851400	Weak transcription	HSMMtube	muscle
11	chr7:111847600-111852400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:111847600-111852800	Weak transcription	Left Ventricle	heart
13	chr7:111847600-111854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:111847600-111855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:111847600-111855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
17	chr7:111847600-111861000	Weak transcription	Lung	lung
18	chr7:111847600-111863400	Weak transcription	Gastric	stomach
19	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
20	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:111847800-111848400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:111847800-111849200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:111847800-111850800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:111847800-111851200	Weak transcription	Fetal Intestine Small	intestine
26	chr7:111847800-111851200	Weak transcription	Stomach Mucosa	stomach
27	chr7:111847800-111851200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:111847800-111851200	Weak transcription	NHLF	lung
29	chr7:111847800-111851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:111847800-111851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:111847800-111851400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:111847800-111851400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:111847800-111851400	Weak transcription	Osteobl	bone
34	chr7:111847800-111851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:111847800-111851600	Weak transcription	Fetal Kidney	kidney
36	chr7:111847800-111851800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:111847800-111855400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:111847800-111855400	Weak transcription	Right Atrium	heart
39	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:111848000-111849000	Weak transcription	Fetal Brain Male	brain
44	chr7:111848000-111849400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:111848000-111850800	Weak transcription	A549	lung
46	chr7:111848000-111851000	Weak transcription	Fetal Heart	heart
47	chr7:111848000-111851200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:111848000-111851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:111848000-111851200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:111848000-111851200	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links