Variant report

Variant	rs12723616
Chromosome Location	chr1:151865853-151865854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1003107	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10158030	1.00[CHB][hapmap]
rs1038746	1.00[CHB][hapmap]
rs1038748	1.00[CHB][hapmap]
rs10788813	1.00[CHB][hapmap]
rs10788816	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10888453	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11204911	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11204912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11204923	1.00[CHB][hapmap]
rs1352654	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1387834	1.00[CHB][hapmap]
rs1387835	1.00[CHB][hapmap]
rs1490187	1.00[CHB][hapmap]
rs1490191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1496037	1.00[CHB][hapmap]
rs1552606	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs1552607	1.00[CHB][hapmap]
rs1602245	1.00[CHB][hapmap]
rs1602248	1.00[CHB][hapmap]
rs17583707	1.00[CHB][hapmap]
rs1873310	1.00[CHB][hapmap]
rs1873311	1.00[CHB][hapmap]
rs1873312	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1967085	1.00[CHB][hapmap]
rs2338018	1.00[CHB][hapmap]
rs2338203	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2932563	1.00[CHB][hapmap]
rs2932567	1.00[CHB][hapmap]
rs2932592	1.00[CHB][hapmap]
rs2999514	1.00[CHB][hapmap]
rs2999527	1.00[CHB][hapmap]
rs2999529	1.00[CHB][hapmap]
rs2999535	1.00[CHB][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap]
rs2999538	1.00[CHB][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CHB][hapmap]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007690	1.00[CHB][hapmap]
rs3007700	1.00[CHB][hapmap]
rs3007701	1.00[CHB][hapmap]
rs3007704	1.00[CHB][hapmap]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs4845385	1.00[CHB][hapmap]
rs4845388	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845393	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845660	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845664	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6587626	1.00[CHB][hapmap]
rs6587628	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6587629	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6587630	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6587641	1.00[CHB][hapmap]
rs6659029	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6685291	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6690443	1.00[CEU][hapmap]
rs6691350	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7529451	1.00[CHB][hapmap]
rs7532721	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs902314	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs902315	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs959945	1.00[CHB][hapmap]
rs9943225	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151866400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
5	chr1:151844800-151870800	Weak transcription	Gastric	stomach
6	chr1:151844800-151871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:151844800-151877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:151845400-151871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:151846400-151870400	Weak transcription	Right Ventricle	heart
10	chr1:151846400-151871600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:151847000-151869600	Weak transcription	Small Intestine	intestine
12	chr1:151847000-151871000	Weak transcription	Spleen	Spleen
13	chr1:151847400-151870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:151851000-151871200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:151857000-151873000	Weak transcription	GM12878-XiMat	blood
17	chr1:151857600-151873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:151857600-151874200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:151857800-151866600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:151857800-151867800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:151857800-151868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:151858000-151866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:151858000-151867800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:151858000-151868000	Strong transcription	Fetal Intestine Large	intestine
25	chr1:151858000-151868000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:151858000-151868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:151859400-151870800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:151859600-151868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:151859600-151869200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:151859600-151870600	Weak transcription	HepG2	liver
31	chr1:151860000-151868600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:151860600-151871800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:151860600-151877600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:151861400-151866000	Weak transcription	HMEC	breast
36	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:151861800-151867400	Strong transcription	Hela-S3	cervix
38	chr1:151862400-151870400	Weak transcription	Psoas Muscle	Psoas
39	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:151863000-151867400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:151863000-151868400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:151863000-151869600	Weak transcription	Colonic Mucosa	Colon
43	chr1:151863200-151870600	Weak transcription	Esophagus	oesophagus
44	chr1:151863600-151866000	Weak transcription	HSMM	muscle
45	chr1:151863600-151866200	Strong transcription	Fetal Kidney	kidney
46	chr1:151863600-151868000	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:151863600-151868200	Strong transcription	Left Ventricle	heart
48	chr1:151863800-151868000	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:151863800-151869000	Weak transcription	Placenta	Placenta
50	chr1:151864000-151866000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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