Variant report

Variant	rs28395168
Chromosome Location	chr9:44118161-44118162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28363714	0.86[AFR][1000 genomes]
rs28388287	0.81[AFR][1000 genomes]
rs28449753	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28532674	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28542016	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28576093	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28588544	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28610048	0.84[AMR][1000 genomes]
rs28612278	0.83[AFR][1000 genomes]
rs28612439	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28651802	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28685579	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28707204	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28820585	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3890449	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62538301	0.81[AMR][1000 genomes]
rs62538308	0.82[AFR][1000 genomes]
rs62539263	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62539264	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62539265	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62539269	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1032592	chr9:43505840-44396915	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1021421	chr9:43505840-44469316	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2753911	chr9:43530395-44466984	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv2756103	chr9:43530395-44466984	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1015636	chr9:43612150-44145340	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1029109	chr9:43612150-44273229	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1026029	chr9:43612150-44446124	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1029916	chr9:43612150-44466205	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1034880	chr9:43612150-44469316	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1016609	chr9:43654127-44241805	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1016330	chr9:43654127-44273229	Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1030605	chr9:43654127-44469316	Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1019786	chr9:43675599-44469316	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1024443	chr9:43700866-44469316	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1020552	chr9:43726990-44273229	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1018992	chr9:43726990-44469316	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1015988	chr9:43734207-44469316	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv1034869	chr9:43757334-44739032	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv1018198	chr9:43772038-44469316	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1026263	chr9:43776906-44469316	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv1029361	chr9:43800174-44273229	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	esv1828893	chr9:43936609-44463095	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	esv1822441	chr9:43941952-44475321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
31	nsv968643	chr9:43997036-44139152	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
32	esv1821075	chr9:44015421-44475321	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	esv1833488	chr9:44046700-44821943	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv1020826	chr9:44114860-44241805	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv1027972	chr9:44114860-44243422	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv1033665	chr9:44114860-44259151	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
37	nsv1018117	chr9:44114860-44273229	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv1028168	chr9:44114860-44396915	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv1034754	chr9:44114860-44446124	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv1026041	chr9:44114860-44469316	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
41	nsv1030815	chr9:44114860-44824251	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
42	nsv1021486	chr9:44114860-44837515	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
43	nsv1030607	chr9:44114860-44855725	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
44	nsv1025176	chr9:44114860-44875930	Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
45	esv2761251	chr9:44114872-44875942	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs28395168	CR848007.2	cis	Adipose Subcutaneous	GTEx
rs28395168	CR848007.2	cis	Nerve Tibial	GTEx
rs28395168	ANKRD20A7P	cis	Esophagus Muscularis	GTEx
rs28395168	CR848007.2	cis	Thyroid	GTEx
rs28395168	ANKRD20A7P	cis	Esophagus Mucosa	GTEx
rs28395168	ANKRD20A7P	cis	Skin Sun Exposed Lower leg	GTEx
rs28395168	ANKRD20A7P	cis	Thyroid	GTEx
rs28395168	ANKRD20A7P	cis	Adipose Subcutaneous	GTEx
rs28395168	ANKRD20A7P	cis	Nerve Tibial	GTEx
rs28395168	ANKRD20A7P	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44118000-44118200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:44118000-44118200	Active TSS	Primary T cells fromperipheralblood	blood
3	chr9:44118000-44118200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:44118000-44118200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:44118000-44118200	Active TSS	Right Ventricle	heart
6	chr9:44118000-44118400	Active TSS	Primary monocytes fromperipheralblood	blood
7	chr9:44118000-44118600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:44118000-44118600	Active TSS	Brain Hippocampus Middle	brain
9	chr9:44118000-44118800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:44118000-44118800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr9:44118000-44118800	Active TSS	Liver	Liver
12	chr9:44118000-44118800	Active TSS	NHEK	skin
13	chr9:44118000-44119000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:44118000-44119000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr9:44118000-44119000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:44118000-44119000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:44118000-44119000	Active TSS	Primary hematopoietic stem cells	blood
18	chr9:44118000-44119000	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr9:44118000-44119000	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr9:44118000-44119000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:44118000-44119000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:44118000-44119000	Active TSS	Colon Smooth Muscle	Colon
23	chr9:44118000-44119000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr9:44118000-44119000	Active TSS	Left Ventricle	heart
25	chr9:44118000-44119000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr9:44118000-44119000	Active TSS	A549	lung
27	chr9:44118000-44119000	Active TSS	Dnd41	blood
28	chr9:44118000-44119200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr9:44118000-44119200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:44118000-44119200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:44118000-44119200	Active TSS	Brain Angular Gyrus	brain
32	chr9:44118000-44119200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:44118000-44119200	Active TSS	HepG2	liver
34	chr9:44118000-44119400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:44118000-44119400	Active TSS	Adipose Nuclei	Adipose
36	chr9:44118000-44119400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr9:44118000-44119400	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr9:44118000-44119400	Active TSS	Fetal Thymus	thymus
39	chr9:44118000-44119600	Active TSS	Brain Anterior Caudate	brain
40	chr9:44118000-44119600	Active TSS	Thymus	Thymus
41	chr9:44118000-44119800	Active TSS	Brain Germinal Matrix	brain
42	chr9:44118000-44120000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:44118000-44120000	Active TSS	Fetal Brain Female	brain

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