Variant report

Variant	rs7721591
Chromosome Location	chr5:102001191-102001192
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	chr5:101997488..102001843-chr5:102002537..102007898,8	K562	blood:

Variant related genes	Relation type
ENSG00000250682	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11958430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152753	1.00[EUR][1000 genomes]
rs17153568	1.00[EUR][1000 genomes]
rs17153781	1.00[EUR][1000 genomes]
rs17154026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58716855	1.00[AMR][1000 genomes]
rs59290324	1.00[AMR][1000 genomes]
rs60180431	1.00[AMR][1000 genomes]
rs6596510	1.00[EUR][1000 genomes]
rs6596511	1.00[EUR][1000 genomes]
rs6596512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6596513	1.00[EUR][1000 genomes]
rs6869156	1.00[AMR][1000 genomes]
rs6869874	1.00[EUR][1000 genomes]
rs6870563	1.00[AMR][1000 genomes]
rs6870753	1.00[AMR][1000 genomes]
rs6872779	1.00[AMR][1000 genomes]
rs6884867	1.00[EUR][1000 genomes]
rs6890942	1.00[AMR][1000 genomes]
rs6892195	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73774846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73774847	1.00[EUR][1000 genomes]
rs7703621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707787	1.00[AMR][1000 genomes]
rs7716303	1.00[AMR][1000 genomes]
rs7723320	1.00[EUR][1000 genomes]
rs7724728	1.00[AMR][1000 genomes]
rs7727074	1.00[EUR][1000 genomes]
rs7729678	1.00[AMR][1000 genomes]
rs7736392	1.00[EUR][1000 genomes]
rs9686868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1033405	chr5:101912749-102005038	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	nsv427728	chr5:101937704-102103247	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101995000-102005800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:101995200-102006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:101995800-102003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:101996000-102002000	Weak transcription	Esophagus	oesophagus
5	chr5:101997000-102006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:101998800-102005000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:101999200-102001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:101999400-102001200	Enhancers	Colon Smooth Muscle	Colon
9	chr5:101999400-102003400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:101999600-102001200	Enhancers	HSMM	muscle
11	chr5:101999600-102002200	Enhancers	Fetal Brain Female	brain
12	chr5:101999600-102003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:101999600-102003000	Enhancers	Fetal Brain Male	brain
14	chr5:101999600-102004200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:101999800-102001200	Enhancers	Fetal Kidney	kidney
16	chr5:101999800-102001400	Enhancers	Ovary	ovary
17	chr5:101999800-102002000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:102000200-102005000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:102000400-102001200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:102000400-102001200	Enhancers	Brain Germinal Matrix	brain
21	chr5:102000400-102001200	Enhancers	Osteobl	bone
22	chr5:102000400-102001800	Weak transcription	NH-A	brain
23	chr5:102000400-102002000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:102000600-102002000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:102000600-102002000	Weak transcription	HMEC	breast
26	chr5:102000600-102002400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:102000600-102003000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:102000800-102001200	Enhancers	Aorta	Aorta
29	chr5:102000800-102003000	Enhancers	NHDF-Ad	bronchial
30	chr5:102000800-102004000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:102001000-102001200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:102001000-102001200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:102001000-102001200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:102001000-102001200	Enhancers	NHLF	lung
35	chr5:102001000-102001800	Enhancers	Brain Hippocampus Middle	brain

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