Variant report

Variant	rs73271795
Chromosome Location	chr12:29844615-29844616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57441371	0.88[AFR][1000 genomes]
rs59511484	0.94[AFR][1000 genomes]
rs60513853	0.88[AFR][1000 genomes]
rs73269892	0.88[AFR][1000 genomes]
rs73271729	0.88[AFR][1000 genomes]
rs73271754	0.94[AFR][1000 genomes]
rs73271755	0.94[AFR][1000 genomes]
rs73271766	0.88[AFR][1000 genomes]
rs73271768	0.94[AFR][1000 genomes]
rs73271771	0.88[AFR][1000 genomes]
rs73271772	0.88[AFR][1000 genomes]
rs73271781	0.94[AFR][1000 genomes]
rs73271791	0.94[AFR][1000 genomes]
rs73271799	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3484985	chr12:29842885-29847783	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
4	nsv557918	chr12:29843095-29845324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
5	nsv557919	chr12:29843095-29846017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
6	nsv557920	chr12:29843095-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
7	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3485007	chr12:29843843-29846964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
9	esv6043	chr12:29844191-29846669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
10	esv3484996	chr12:29844242-29846540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
11	esv3485018	chr12:29844299-29846534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	esv3484952	chr12:29844302-29846510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
13	esv3484963	chr12:29844325-29846469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
14	esv1010064	chr12:29844357-29845446	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	n/a
15	nsv826291	chr12:29844357-29845446	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
16	nsv826292	chr12:29844357-29846660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
17	esv3484974	chr12:29844368-29846440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
18	nsv498785	chr12:29844381-29846439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
19	esv3485029	chr12:29844382-29846439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
20	esv12524	chr12:29844411-29846441	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
21	nsv557922	chr12:29844526-29845324	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
22	nsv557923	chr12:29844526-29845375	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
23	nsv557924	chr12:29844526-29845540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
24	nsv557925	chr12:29844526-29845646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
25	nsv557926	chr12:29844526-29845963	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
26	nsv557927	chr12:29844526-29846017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
27	nsv557928	chr12:29844526-29846132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
28	esv1825903	chr12:29844526-29846251	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
29	esv1826266	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
30	esv1828059	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
31	esv1828076	chr12:29844526-29846251	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	n/a
32	esv1828637	chr12:29844526-29846251	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
33	esv1828825	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
34	esv1829560	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
35	esv1831017	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
36	esv1833547	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
37	esv1842876	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
38	esv1843670	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
39	esv1844374	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
40	esv1844480	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
41	esv1846540	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
42	esv1847549	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
43	esv1848901	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
44	esv1849350	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
45	esv1851052	chr12:29844526-29846251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
46	esv1851842	chr12:29844526-29846251	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
47	nsv557929	chr12:29844526-29846251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
48	esv1826337	chr12:29844526-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
49	nsv557930	chr12:29844526-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
50	nsv514661	chr12:29844557-29845305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
4	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:29830200-29857400	Weak transcription	HSMM	muscle
7	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:29835000-29846800	Weak transcription	Right Ventricle	heart
12	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29842000-29847800	Weak transcription	Psoas Muscle	Psoas
17	chr12:29842200-29847000	Weak transcription	Fetal Heart	heart
18	chr12:29842400-29847600	Weak transcription	Left Ventricle	heart
19	chr12:29842600-29845600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:29842800-29844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:29843000-29845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:29843200-29845200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:29843800-29844800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:29843800-29844800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:29843800-29845000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:29844000-29844800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:29844000-29845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:29844200-29844800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:29844200-29844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:29844200-29844800	Enhancers	HMEC	breast
31	chr12:29844200-29845400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29844600-29845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:29844600-29845400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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