Variant report

Variant	rs12299524
Chromosome Location	chr12:47031096-47031097
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183557	0.85[AFR][1000 genomes]
rs11504528	0.91[AFR][1000 genomes]
rs12300875	1.00[AFR][1000 genomes]
rs12307390	0.89[AFR][1000 genomes]
rs12308056	0.85[AFR][1000 genomes]
rs12310253	0.95[AFR][1000 genomes]
rs12312764	0.87[AFR][1000 genomes]
rs12314549	0.81[AFR][1000 genomes]
rs12315703	0.85[AFR][1000 genomes]
rs12316011	0.87[AFR][1000 genomes]
rs12318292	0.95[AFR][1000 genomes]
rs12319714	0.95[AFR][1000 genomes]
rs12320094	1.00[AFR][1000 genomes]
rs1946173	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1848054	chr12:47018846-47033254	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3500674	chr12:47026785-47031883	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3500685	chr12:47026785-47031883	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3526580	chr12:47027435-47034283	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3526581	chr12:47027835-47034333	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv19977	chr12:47028397-47033327	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3526582	chr12:47028477-47033406	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3526583	chr12:47028477-47033406	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv498791	chr12:47028576-47033309	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1844087	chr12:47028684-47031694	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1807279	chr12:47028684-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1808055	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1808495	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1808692	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1812687	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1813229	chr12:47028684-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1814227	chr12:47028684-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1844105	chr12:47028684-47033254	Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1844415	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1845343	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1848285	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1848825	chr12:47028684-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1849402	chr12:47028684-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1850637	chr12:47028684-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1805473	chr12:47028797-47033254	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1806167	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1806852	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1807357	chr12:47028797-47033254	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1810216	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1812354	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1812448	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1812586	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1843008	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1843386	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1844466	chr12:47028797-47033254	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1846164	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1847392	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1848554	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv1849579	chr12:47028797-47033254	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1850246	chr12:47028797-47033254	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
49	esv3372339	chr12:47028885-47034683	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47023200-47032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:47025400-47034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:47025800-47032200	Weak transcription	NHEK	skin
4	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47027400-47032400	Weak transcription	Gastric	stomach
6	chr12:47030200-47034000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47030600-47031400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:47030600-47031800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr12:47030600-47032400	ZNF genes & repeats	Dnd41	blood
10	chr12:47030800-47032200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr12:47030800-47032200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr12:47030800-47032400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:47030800-47032400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:47030800-47032400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr12:47030800-47032800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:47031000-47031200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:47031000-47031800	ZNF genes & repeats	Fetal Stomach	stomach

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