Variant report

Variant	rs34531723
Chromosome Location	chr2:172564094-172564095
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr2:172563955-172564403	HEK293	kidney:	n/a	n/a
2	STAT3	chr2:172563986-172564547	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172562033..172564981-chr2:172949316..172951224,2	K562	blood:
2	chr2:172543004..172545570-chr2:172563636..172565451,2	K562	blood:
3	chr2:172560578..172564258-chr2:172967186..172970481,4	K562	blood:
4	chr2:172562639..172565244-chr2:172948743..172950770,2	MCF-7	breast:

Variant related genes	Relation type
DYNC1I2	TF binding region
ENSG00000144355	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 19 )
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]
rs10930491	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11690807	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12052995	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12997093	0.97[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	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17581284	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17614941	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271758	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2292816	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34242651	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35854151	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770458	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4510184	0.85[AMR][1000 genomes]
rs59844139	0.81[AMR][1000 genomes]
rs62184165	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6723259	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9789538	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34531723	AC068039.4	cis	Thyroid	GTEx

Chromatin state (count:118 , 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	chr2:172546000-172567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172546000-172568600	Weak transcription	Hela-S3	cervix
11	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
12	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
13	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
14	chr2:172548200-172571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:172550200-172564200	Weak transcription	HMEC	breast
17	chr2:172550200-172567800	Weak transcription	Dnd41	blood
18	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:172552200-172573400	Weak transcription	Fetal Brain Female	brain
20	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:172554000-172580200	Weak transcription	Aorta	Aorta
22	chr2:172554400-172566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
24	chr2:172554600-172572000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:172554600-172572200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:172554800-172564400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:172554800-172580400	Weak transcription	K562	blood
28	chr2:172555000-172564400	Weak transcription	Placenta	Placenta
29	chr2:172555000-172566400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:172555000-172571800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:172555000-172571800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:172555000-172580200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:172555600-172566400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:172556800-172568600	Weak transcription	Fetal Kidney	kidney
35	chr2:172557000-172566200	Weak transcription	Left Ventricle	heart
36	chr2:172557000-172568600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:172557000-172571800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:172557200-172564200	Weak transcription	NH-A	brain
39	chr2:172557400-172584400	Weak transcription	Ovary	ovary
40	chr2:172557600-172572200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:172558000-172565200	Weak transcription	Fetal Stomach	stomach
42	chr2:172558000-172574600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:172558800-172571800	Weak transcription	Liver	Liver
44	chr2:172558800-172583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:172559000-172564200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:172559000-172568000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:172559000-172585000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:172559600-172566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:172559600-172567800	Weak transcription	NHLF	lung
50	chr2:172559600-172572000	Weak transcription	GM12878-XiMat	blood

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