Variant report

Variant	rs2413032
Chromosome Location	chr22:31571367-31571368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1034588	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1034589	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1858821	0.85[EUR][1000 genomes]
rs2040533	0.85[EUR][1000 genomes]
rs2073857	0.85[EUR][1000 genomes]
rs2078803	0.83[EUR][1000 genomes]
rs2079431	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2106294	0.85[EUR][1000 genomes]
rs2228619	0.85[EUR][1000 genomes]
rs2283879	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2283881	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2413031	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2413033	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2413034	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2413035	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2413046	0.84[EUR][1000 genomes]
rs2413047	0.85[EUR][1000 genomes]
rs2413049	0.82[EUR][1000 genomes]
rs4141404	0.85[EUR][1000 genomes]
rs4299418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4820042	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4820043	0.83[EUR][1000 genomes]
rs4820951	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5749224	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749229	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753500	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5753505	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753507	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753521	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753543	0.83[EUR][1000 genomes]
rs5997902	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5997912	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5997913	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5997933	0.82[EUR][1000 genomes]
rs5997939	0.85[EUR][1000 genomes]
rs737684	0.84[EUR][1000 genomes]
rs737887	0.80[EUR][1000 genomes]
rs737888	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8135344	0.85[EUR][1000 genomes]
rs8135347	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2413032	SFI1	cis	Thyroid	GTEx
rs2413032	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
3	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:31557400-31575000	Weak transcription	Gastric	stomach
5	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
9	chr22:31557600-31578600	Weak transcription	K562	blood
10	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:31558200-31573000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:31558200-31575000	Weak transcription	Stomach Mucosa	stomach
16	chr22:31558400-31573000	Weak transcription	Fetal Heart	heart
17	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:31558800-31572800	Weak transcription	Brain Germinal Matrix	brain
20	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
21	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:31559600-31572800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:31559600-31575000	Weak transcription	Pancreas	Pancrea
24	chr22:31562000-31573000	Weak transcription	Fetal Brain Female	brain
25	chr22:31562000-31573200	Weak transcription	HepG2	liver
26	chr22:31562000-31575600	Weak transcription	Fetal Kidney	kidney
27	chr22:31562400-31572000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:31562400-31572200	Weak transcription	Thymus	Thymus
29	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:31562600-31578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:31563000-31572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:31563000-31577400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:31563600-31572800	Weak transcription	Primary T cells from cord blood	blood
34	chr22:31563800-31574000	Weak transcription	Fetal Muscle Leg	muscle
35	chr22:31564000-31572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:31564000-31572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr22:31564200-31573000	Weak transcription	Fetal Intestine Large	intestine
38	chr22:31564400-31571600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:31564400-31572200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:31564600-31574400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:31564600-31575400	Weak transcription	Dnd41	blood
42	chr22:31564600-31582600	Weak transcription	Fetal Thymus	thymus
43	chr22:31564800-31572200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:31564800-31572200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:31564800-31572200	Weak transcription	Fetal Lung	lung
46	chr22:31565000-31572200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:31566000-31572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr22:31566200-31583000	Weak transcription	Brain Angular Gyrus	brain
49	chr22:31566400-31572200	Weak transcription	Brain Substantia Nigra	brain
50	chr22:31566400-31572800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links