Variant report

Variant	rs772704
Chromosome Location	chr12:56315824-56315825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128982	0.94[CEU][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1052206	0.94[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747760	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783774	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783775	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876862	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1136082	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298127	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1681070	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681082	0.84[AMR][1000 genomes]
rs1701698	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1701699	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2101718	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4414258	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956428	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581087	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs705711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705715	0.94[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135133	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7297871	0.94[CEU][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302957	0.88[CEU][hapmap]
rs7308505	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312870	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs772462	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs772468	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs772473	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs772475	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs772700	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9739192	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9739196	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
3	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:56293600-56319200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:56293800-56319600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:56294200-56319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:56294400-56319600	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:56296000-56319600	Weak transcription	Right Ventricle	heart
10	chr12:56296200-56319400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:56296800-56319600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:56297200-56319200	Weak transcription	Colonic Mucosa	Colon
13	chr12:56297200-56319600	Weak transcription	Brain Germinal Matrix	brain
14	chr12:56297200-56319600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:56297200-56320000	Weak transcription	Gastric	stomach
16	chr12:56297200-56320000	Weak transcription	Spleen	Spleen
17	chr12:56297400-56316000	Weak transcription	Thymus	Thymus
18	chr12:56297600-56319600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:56300400-56319400	Weak transcription	HSMMtube	muscle
20	chr12:56303400-56319600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:56303600-56319600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:56303800-56319400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:56303800-56319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:56303800-56319600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:56304000-56319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:56307400-56319400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:56307600-56319600	Weak transcription	Fetal Kidney	kidney
28	chr12:56307800-56316000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:56308000-56319600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:56308200-56319400	Weak transcription	HSMM	muscle
31	chr12:56308400-56319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:56308800-56318800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:56308800-56320000	Weak transcription	Small Intestine	intestine
34	chr12:56309200-56319600	Weak transcription	HUVEC	blood vessel
35	chr12:56309400-56320000	Weak transcription	Stomach Mucosa	stomach
36	chr12:56309600-56316000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:56309600-56319600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:56310000-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:56310200-56319600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:56310400-56318800	Weak transcription	HMEC	breast
41	chr12:56310400-56319400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:56310800-56319000	Weak transcription	K562	blood
43	chr12:56310800-56319200	Weak transcription	Fetal Lung	lung
44	chr12:56310800-56320000	Weak transcription	Esophagus	oesophagus
45	chr12:56312400-56319400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:56312800-56316200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:56312800-56319200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:56313000-56319000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:56313200-56316600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56313200-56319200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links