Variant report

Variant	rs6723259
Chromosome Location	chr2:172622527-172622528
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172621958..172624550-chr2:172626505..172629129,2	K562	blood:

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

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

rs_ID	r²[population]
rs1028127	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930491	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11690807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052995	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12997093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12998411	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1607254	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17581284	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17614941	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2271758	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2292816	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34242651	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34531723	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35854151	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770458	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4510184	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59844139	0.85[AMR][1000 genomes]
rs62184165	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789538	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[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
rs6723259	AC068039.4	cis	Thyroid	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
2	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172602000-172624200	Weak transcription	Esophagus	oesophagus
4	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:172604400-172641200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:172607400-172627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:172609600-172628800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:172615400-172623800	Weak transcription	Fetal Lung	lung
10	chr2:172618000-172626400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:172618000-172639600	Weak transcription	Fetal Heart	heart
12	chr2:172618400-172639800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:172618400-172641000	Weak transcription	Aorta	Aorta
14	chr2:172618800-172625800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:172618800-172640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:172619000-172623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:172619000-172624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:172619000-172627800	Weak transcription	Dnd41	blood
19	chr2:172619000-172630600	Weak transcription	Lung	lung
20	chr2:172619000-172638800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:172619000-172641000	Weak transcription	Spleen	Spleen
22	chr2:172619200-172623400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:172619200-172623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:172619200-172624000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:172619200-172624000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:172619200-172624200	Weak transcription	Right Ventricle	heart
27	chr2:172619200-172627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:172619200-172632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:172619200-172634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:172619200-172635000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:172619200-172635200	Weak transcription	A549	lung
32	chr2:172619200-172638600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:172619200-172640800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:172619200-172641000	Weak transcription	Thymus	Thymus
35	chr2:172619200-172641600	Weak transcription	Gastric	stomach
36	chr2:172619200-172641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:172619400-172626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:172619400-172627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:172619400-172627000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:172619600-172640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:172619800-172626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:172620000-172634200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:172620200-172625800	Weak transcription	Fetal Stomach	stomach
44	chr2:172620200-172627200	Weak transcription	Liver	Liver
45	chr2:172620200-172627200	Weak transcription	Fetal Intestine Small	intestine
46	chr2:172620200-172630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:172620200-172634600	Weak transcription	Brain Angular Gyrus	brain
48	chr2:172620200-172641400	Weak transcription	NHEK	skin
49	chr2:172620400-172624200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:172620400-172626800	Weak transcription	NH-A	brain

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