Variant report

Variant	rs2975911
Chromosome Location	chr9:72683983-72683984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72683149..72684713-chr9:72696505..72698897,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10511979	0.87[ASN][1000 genomes]
rs1073540	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1112232	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1180102	0.83[CHB][hapmap]
rs1180104	0.83[CHB][hapmap]
rs1180105	0.83[CHB][hapmap]
rs12002407	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12003971	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12683986	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs12685632	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685937	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685939	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686383	0.90[ASN][1000 genomes]
rs12686668	0.91[ASN][1000 genomes]
rs17087686	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17523363	1.00[ASN][1000 genomes]
rs1927105	0.89[ASN][1000 genomes]
rs1927110	0.89[ASN][1000 genomes]
rs1927148	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1927150	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1986412	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001235	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296772	0.84[ASN][1000 genomes]
rs2296773	0.84[ASN][1000 genomes]
rs2309584	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2975866	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2975867	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2975868	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2975880	0.89[ASN][1000 genomes]
rs2975884	0.89[ASN][1000 genomes]
rs2997668	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997679	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2997681	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2997714	0.89[ASN][1000 genomes]
rs3015165	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015169	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3015170	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3015171	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015173	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015174	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015175	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3015177	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3015180	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3015181	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3015182	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3015184	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015185	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015186	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015189	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3015198	0.89[ASN][1000 genomes]
rs3015204	0.89[ASN][1000 genomes]
rs3015207	0.89[ASN][1000 genomes]
rs3015213	0.89[ASN][1000 genomes]
rs3015223	0.86[ASN][1000 genomes]
rs3829096	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289878	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460447	0.89[ASN][1000 genomes]
rs4495496	0.84[ASN][1000 genomes]
rs58085049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58660710	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61416419	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7034322	0.83[CHB][hapmap]
rs716535	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs72709197	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709200	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710469	0.93[ASN][1000 genomes]
rs72710483	0.90[ASN][1000 genomes]
rs745852	0.89[ASN][1000 genomes]
rs867595	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943540	0.83[CHB][hapmap];0.87[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:72670000-72688400	Weak transcription	NH-A	brain
3	chr9:72674000-72684400	Weak transcription	Fetal Stomach	stomach
4	chr9:72676600-72694000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:72676800-72688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:72676800-72688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:72677000-72684400	Weak transcription	HSMM	muscle
8	chr9:72677000-72689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:72677600-72684600	Weak transcription	HSMMtube	muscle
10	chr9:72677600-72694000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:72680000-72689200	Enhancers	Colon Smooth Muscle	Colon
12	chr9:72680200-72684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:72680600-72684200	Enhancers	Adipose Nuclei	Adipose
14	chr9:72680600-72684600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:72681000-72684400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:72681000-72687600	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:72681200-72684800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:72681400-72685000	Weak transcription	Small Intestine	intestine
19	chr9:72681600-72684000	Weak transcription	Right Atrium	heart
20	chr9:72682000-72685000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr9:72682400-72684200	Enhancers	Stomach Smooth Muscle	stomach
22	chr9:72682400-72684800	Weak transcription	Left Ventricle	heart
23	chr9:72682800-72684800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:72683400-72684800	Weak transcription	Aorta	Aorta
25	chr9:72683400-72685200	Enhancers	Psoas Muscle	Psoas
26	chr9:72683400-72686600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:72683400-72688000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:72683400-72688200	Weak transcription	Osteobl	bone
29	chr9:72683800-72684600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:72683800-72685200	Enhancers	Ovary	ovary

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