Variant report

Variant	rs6722155
Chromosome Location	chr2:77979650-77979651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13427464	1.00[ASN][1000 genomes]
rs57920989	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2757810	chr2:77855098-78101551	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759067	chr2:77855098-78101551	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv874344	chr2:77857764-77979650	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv874345	chr2:77912770-78199268	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv582260	chr2:77936295-78027298	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv874346	chr2:77947988-78001566	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	nsv1013910	chr2:77950993-78115558	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2756612	chr2:77954152-78005506	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv834270	chr2:77958854-78132128	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3444661	chr2:77962346-77988421	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
16	esv3367663	chr2:77963346-77999249	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
17	nsv1001666	chr2:77964873-77990617	Active TSS Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
18	esv2756932	chr2:77964873-77994215	Active TSS Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
19	nsv582261	chr2:77965325-77998681	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
20	nsv874347	chr2:77965325-78013268	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv874348	chr2:77965325-78018076	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv874349	chr2:77965325-78048214	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv874350	chr2:77971783-78001566	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
24	nsv458341	chr2:77971783-78027063	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv582262	chr2:77971783-78027063	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv1007524	chr2:77973041-77995993	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
27	nsv1006991	chr2:77973041-77996654	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
28	nsv1005248	chr2:77973041-77996873	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
29	esv2760658	chr2:77973053-77996885	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
30	nsv1003701	chr2:77974033-77996654	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
31	nsv998177	chr2:77974033-77996873	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
32	esv3584959	chr2:77974045-77996666	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
33	nsv10049	chr2:77975296-77988580	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
34	nsv1001913	chr2:77976686-77991602	Active TSS Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv997412	chr2:77976686-77995993	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv1011671	chr2:77976686-77996366	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
37	nsv1005148	chr2:77976686-77996654	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
38	nsv1009582	chr2:77976686-77996873	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
39	nsv1007769	chr2:77976686-78003283	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
40	nsv441764	chr2:77976698-77996666	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
41	esv2763644	chr2:77976698-77996885	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
42	nsv514989	chr2:77976716-77994364	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
43	nsv1002917	chr2:77977166-77996654	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
44	nsv438357	chr2:77977262-77994215	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
45	nsv874351	chr2:77977262-78005594	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	inside rSNPs	diseases
46	nsv458352	chr2:77977262-78039666	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
47	nsv582263	chr2:77977262-78039666	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
48	nsv516149	chr2:77979650-78001566	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6722155	CALHM2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77975200-77980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77979400-77980000	Enhancers	H9 Cell Line	embryonic stem cell

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