Variant report

Variant	rs28415796
Chromosome Location	chr9:43686366-43686367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1971919	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28636637	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28703836	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

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	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	nsv1015336	chr9:43505840-43795563	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
46	nsv1018686	chr9:43505840-43800174	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
47	nsv1015727	chr9:43505840-44114860	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
48	nsv1025269	chr9:43505840-44136778	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
49	nsv1029217	chr9:43505840-44145340	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
50	nsv1027371	chr9:43505840-44273229	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43684200-43686400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:43684200-43687000	Active TSS	Right Ventricle	heart
3	chr9:43684200-43687000	Active TSS	A549	lung
4	chr9:43684200-43687200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr9:43684800-43686400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:43684800-43686800	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr9:43684800-43687000	Active TSS	Stomach Smooth Muscle	stomach
8	chr9:43684800-43687200	Active TSS	HMEC	breast
9	chr9:43684800-43687200	Active TSS	HUVEC	blood vessel
10	chr9:43685200-43686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:43685800-43687000	Active TSS	NH-A	brain
12	chr9:43685800-43687200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:43686000-43686400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr9:43686000-43686400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr9:43686000-43686600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr9:43686000-43686600	Bivalent/Poised TSS	Osteobl	bone
17	chr9:43686000-43686800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:43686000-43687000	Active TSS	Colon Smooth Muscle	Colon
19	chr9:43686000-43687000	Active TSS	Fetal Brain Female	brain
20	chr9:43686000-43687200	Active TSS	Brain Anterior Caudate	brain
21	chr9:43686000-43687200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr9:43686200-43686400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr9:43686200-43686400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr9:43686200-43686400	Active TSS	Adipose Nuclei	Adipose
25	chr9:43686200-43686400	Active TSS	Fetal Brain Male	brain
26	chr9:43686200-43686400	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr9:43686200-43686600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr9:43686200-43686600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:43686200-43686600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr9:43686200-43686600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr9:43686200-43686600	Active TSS	Fetal Kidney	kidney
32	chr9:43686200-43686600	Active TSS	Psoas Muscle	Psoas
33	chr9:43686200-43686800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:43686200-43686800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:43686200-43686800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:43686200-43686800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:43686200-43686800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr9:43686200-43686800	Active TSS	Brain Germinal Matrix	brain
39	chr9:43686200-43686800	Active TSS	Rectal Smooth Muscle	rectum
40	chr9:43686200-43687000	Active TSS	Aorta	Aorta
41	chr9:43686200-43687000	Active TSS	Brain Hippocampus Middle	brain
42	chr9:43686200-43687000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:43686200-43687200	Active TSS	Right Atrium	heart

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