Variant report

Variant	rs2975883
Chromosome Location	chr9:72721610-72721611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72707394..72709089-chr9:72720199..72722050,2	K562	blood:

Variant related genes	Relation type
ENSG00000204706	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12000536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12003723	1.00[EUR][1000 genomes]
rs12004033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12004037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12005031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086970	1.00[EUR][1000 genomes]
rs17088359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927110	0.92[AFR][1000 genomes]
rs1927111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975884	0.92[AFR][1000 genomes]
rs2975885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997667	1.00[EUR][1000 genomes]
rs2997683	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2997688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997697	0.89[AFR][1000 genomes]
rs2997698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3015190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015198	0.92[AFR][1000 genomes]
rs3015199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015203	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015214	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015215	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015222	1.00[EUR][1000 genomes]
rs58773163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60836347	1.00[EUR][1000 genomes]
rs73449454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73449465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460527	1.00[EUR][1000 genomes]
rs73460530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7862220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv949052	chr9:72698039-72741247	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv982638	chr9:72715341-72722036	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72707400-72726800	Weak transcription	Pancreas	Pancrea
2	chr9:72709400-72722600	Weak transcription	HSMM	muscle
3	chr9:72713200-72723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:72713800-72725600	Weak transcription	Stomach Mucosa	stomach
5	chr9:72713800-72728200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:72714800-72742400	Weak transcription	Aorta	Aorta
7	chr9:72715600-72723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:72715600-72723200	Weak transcription	Ovary	ovary
9	chr9:72715600-72725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:72715600-72725400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:72715600-72725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:72715600-72725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:72715800-72724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:72715800-72725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:72716000-72725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:72716200-72723200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:72719200-72723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:72719400-72722800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:72720400-72723200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:72720400-72723800	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:72720600-72724600	Weak transcription	Fetal Brain Female	brain
22	chr9:72720800-72722600	Enhancers	HMEC	breast
23	chr9:72721000-72723000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:72721000-72724400	Strong transcription	HSMMtube	muscle
25	chr9:72721000-72726800	Weak transcription	Esophagus	oesophagus
26	chr9:72721200-72722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:72721400-72722000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:72721600-72722000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:72721600-72722200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:72721600-72722800	Weak transcription	Fetal Stomach	stomach
31	chr9:72721600-72723200	Enhancers	Colon Smooth Muscle	Colon
32	chr9:72721600-72723400	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:72721600-72725200	Weak transcription	Right Atrium	heart
34	chr9:72721600-72725400	Weak transcription	H1 Cell Line	embryonic stem cell

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