Variant report

Variant	rs4977273
Chromosome Location	chr9:18977126-18977127
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	chr9:18975628..18978246-chr9:18981249..18983402,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1006120	0.81[CHD][hapmap]
rs10757004	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs10757007	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10757008	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs10757009	0.80[ASN][1000 genomes]
rs10757010	0.80[ASN][1000 genomes]
rs10757012	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10757022	0.82[CHB][hapmap]
rs10811073	0.83[ASN][1000 genomes]
rs10811074	0.83[ASN][1000 genomes]
rs10811075	0.82[CHB][hapmap]
rs10811079	0.80[ASN][1000 genomes]
rs10811080	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs10811082	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs10811085	0.86[CHB][hapmap]
rs10963896	0.86[CHB][hapmap]
rs10963897	0.90[CHB][hapmap]
rs10963898	0.82[CHB][hapmap]
rs11790123	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs12352657	0.91[CHB][hapmap]
rs12352756	0.81[CHB][hapmap]
rs1344007	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1887444	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs1887445	0.80[ASN][1000 genomes]
rs1932445	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1932447	0.84[ASN][1000 genomes]
rs1932448	0.86[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs1932449	0.83[ASN][1000 genomes]
rs1977444	0.83[CHD][hapmap]
rs2039010	0.81[CHD][hapmap]
rs2152464	0.82[CHB][hapmap]
rs2184656	0.85[CHB][hapmap]
rs4278231	0.85[ASN][1000 genomes]
rs4419893	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4506313	0.82[CHB][hapmap]
rs4977476	0.87[CHB][hapmap];0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs4977477	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs4977482	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs6475272	0.81[CHD][hapmap]
rs6475273	0.81[CHD][hapmap]
rs6475276	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs6475292	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6475293	0.81[ASN][1000 genomes]
rs6475294	0.86[CHB][hapmap];0.90[CHD][hapmap];0.81[MEX][hapmap];0.81[ASN][1000 genomes]
rs6475295	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6475296	0.86[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs6475297	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs6475298	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs6475299	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs6475300	0.86[CHB][hapmap]
rs6475301	0.86[ASN][1000 genomes]
rs7021572	0.83[CHB][hapmap];0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs7022960	0.86[ASN][1000 genomes]
rs7024697	0.86[CHB][hapmap]
rs7025123	0.82[CHB][hapmap]
rs7028858	0.86[CHB][hapmap]
rs7028936	0.86[CHB][hapmap]
rs7034201	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7036652	0.85[ASN][1000 genomes]
rs7037837	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7038730	0.86[CHB][hapmap]
rs7045059	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs7048198	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs7848918	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs7849807	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs7852907	0.86[CHB][hapmap]
rs7856117	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7856285	0.83[MEX][hapmap]
rs7857590	0.86[CHB][hapmap]
rs7864376	0.86[CHB][hapmap]
rs7865237	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs7867428	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7871030	0.81[ASN][1000 genomes]
rs7871205	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7871450	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7871456	0.91[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs7871505	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7871732	0.81[ASN][1000 genomes]
rs7875035	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs953734	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18971200-18979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:18971200-18981600	Weak transcription	Gastric	stomach
3	chr9:18971400-18979200	Weak transcription	Right Ventricle	heart
4	chr9:18971400-18979400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:18975000-18980600	Enhancers	Fetal Thymus	thymus
6	chr9:18975200-18979400	Weak transcription	Lung	lung
7	chr9:18975800-18977400	Enhancers	Fetal Stomach	stomach
8	chr9:18976200-18977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:18976200-18977400	Enhancers	Stomach Mucosa	stomach
10	chr9:18976200-18977400	Flanking Active TSS	Osteobl	bone
11	chr9:18976400-18977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:18976400-18977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr9:18976400-18977200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr9:18976400-18977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:18976400-18977600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:18976600-18977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:18976600-18977200	Flanking Active TSS	HSMMtube	muscle
18	chr9:18976800-18977200	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:18976800-18977200	Enhancers	Colonic Mucosa	Colon
20	chr9:18976800-18977400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:18976800-18979600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:18977000-18977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:18977000-18977200	Enhancers	Primary T cells from cord blood	blood
24	chr9:18977000-18977200	Enhancers	NHEK	skin
25	chr9:18977000-18977400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:18977000-18977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:18977000-18977400	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:18977000-18977400	Enhancers	Fetal Kidney	kidney
29	chr9:18977000-18977400	Enhancers	Hela-S3	cervix
30	chr9:18977000-18977400	Enhancers	HUVEC	blood vessel
31	chr9:18977000-18977400	Enhancers	NH-A	brain
32	chr9:18977000-18977400	Enhancers	NHLF	lung
33	chr9:18977000-18977600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:18977000-18977600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:18977000-18977600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:18977000-18977600	Enhancers	Fetal Lung	lung
37	chr9:18977000-18977600	Enhancers	Dnd41	blood
38	chr9:18977000-18977800	Enhancers	HSMM	muscle
39	chr9:18977000-18979400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:18977000-18979400	Weak transcription	Ovary	ovary
41	chr9:18977000-18979800	Weak transcription	Fetal Heart	heart
42	chr9:18977000-18980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:18977000-18981400	Weak transcription	Adipose Nuclei	Adipose
44	chr9:18977000-18981400	Weak transcription	Aorta	Aorta
45	chr9:18977000-18981400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:18977000-18982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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