Variant report

Variant	rs2100554
Chromosome Location	chr9:43582935-43582936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1971917	0.81[EUR][1000 genomes]
rs1971918	0.81[EUR][1000 genomes]
rs2085339	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893173	chr9:43034822-43998470	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1829975	chr9:43045290-43831337	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1032639	chr9:43064834-43701826	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1025182	chr9:43064834-43705240	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1027611	chr9:43064834-43747241	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1027107	chr9:43064834-43776906	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1034498	chr9:43064834-43780897	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1019827	chr9:43064834-43790334	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1030625	chr9:43064834-43800174	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1033674	chr9:43127213-43776906	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1016572	chr9:43127213-43800174	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv436621	chr9:43145796-44122367	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1015998	chr9:43166976-43734207	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1020636	chr9:43166976-43795563	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1020348	chr9:43166976-43800174	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv893174	chr9:43180204-43619959	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv893175	chr9:43314875-43614545	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv893176	chr9:43314875-43668780	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv515142	chr9:43315660-43785116	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
20	esv3584910	chr9:43315670-43795575	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv442543	chr9:43315670-43795575	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1022920	chr9:43315962-43772038	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv1025263	chr9:43315962-43776906	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv1022381	chr9:43315962-43780897	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv1030430	chr9:43315962-43790334	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv1020786	chr9:43315962-43795563	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv1031843	chr9:43315962-43800174	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv1030874	chr9:43315962-44114860	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv1021270	chr9:43315962-44145340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv1024462	chr9:43315962-44205637	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv893177	chr9:43321166-43619959	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv893178	chr9:43321166-43737633	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
33	nsv893179	chr9:43321166-43998470	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
34	esv1005820	chr9:43386292-43590293	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv533545	chr9:43386522-43686949	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
36	nsv533560	chr9:43386522-43704940	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
37	nsv1032238	chr9:43437359-43780897	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
38	nsv1025380	chr9:43437359-43800174	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
39	esv2761263	chr9:43437359-43800186	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
40	nsv1029200	chr9:43437359-44214733	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
41	nsv893180	chr9:43444135-43676721	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
42	nsv893181	chr9:43444135-43998470	Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
43	nsv1029527	chr9:43445985-43795563	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
44	nsv1029736	chr9:43445985-43800174	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
45	nsv916819	chr9:43468811-43836398	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
46	nsv893182	chr9:43504854-43734193	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
47	nsv893183	chr9:43504854-43998470	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
48	nsv1027112	chr9:43505840-43776906	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
49	nsv1017282	chr9:43505840-43780897	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
50	nsv1026143	chr9:43505840-43790334	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43581000-43583400	Active TSS	A549	lung
2	chr9:43582600-43583000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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