Variant report

Variant	rs10930491
Chromosome Location	chr2:172569824-172569825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172543031..172545522-chr2:172569507..172571244,2	K562	blood:
2	chr2:172565795..172568439-chr2:172569499..172571392,2	K562	blood:

Variant related genes	Relation type
ENSG00000077380	Chromatin interaction
ENSG00000268821	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1028127	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11690807	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052995	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12998411	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1607254	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17581284	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17614941	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271758	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2292816	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34242651	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34531723	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35854151	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770458	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4510184	0.85[AMR][1000 genomes]
rs59844139	0.81[AMR][1000 genomes]
rs62184165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723259	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789538	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10930491	AC068039.4	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545000-172580200	Weak transcription	Pancreas	Pancrea
2	chr2:172545000-172580400	Weak transcription	Spleen	Spleen
3	chr2:172545000-172580800	Weak transcription	Gastric	stomach
4	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172545800-172573000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172545800-172575400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
9	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
10	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
11	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
12	chr2:172548200-172571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:172552200-172573400	Weak transcription	Fetal Brain Female	brain
16	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:172554000-172580200	Weak transcription	Aorta	Aorta
18	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
19	chr2:172554600-172572000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:172554600-172572200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:172554800-172580400	Weak transcription	K562	blood
22	chr2:172555000-172571800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:172555000-172571800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:172555000-172580200	Weak transcription	Brain Anterior Caudate	brain
25	chr2:172557000-172571800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:172557400-172584400	Weak transcription	Ovary	ovary
27	chr2:172557600-172572200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:172558000-172574600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:172558800-172571800	Weak transcription	Liver	Liver
30	chr2:172558800-172583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:172559000-172585000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:172559600-172572000	Weak transcription	GM12878-XiMat	blood
33	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
34	chr2:172559800-172571600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:172559800-172571600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:172559800-172571800	Weak transcription	Adipose Nuclei	Adipose
37	chr2:172560000-172574400	Weak transcription	Lung	lung
38	chr2:172560000-172576200	Weak transcription	Thymus	Thymus
39	chr2:172560400-172580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:172560800-172572200	Weak transcription	Brain Angular Gyrus	brain
41	chr2:172560800-172573800	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:172561000-172579600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:172561000-172583600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:172561200-172571800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:172561200-172580200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:172561200-172587800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:172561400-172580200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
49	chr2:172562200-172572000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:172563200-172574400	Weak transcription	Primary T cells from cord blood	blood

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