Variant report

Variant	rs7829394
Chromosome Location	chr8:55011358-55011359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
2	chr8:55010890..55013599-chr8:55056433..55059069,2	MCF-7	breast:
3	chr8:55008979..55011480-chr8:55012604..55016082,4	K562	blood:
4	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
5	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
6	chr8:54934843..54936668-chr8:55008922..55011513,2	K562	blood:
7	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs59549579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834806	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7001356	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018154	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818005	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
2	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
5	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
6	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
7	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:55000200-55011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:55000200-55011400	Weak transcription	NH-A	brain
11	chr8:55000200-55011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:55000200-55011800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:55000200-55012600	Weak transcription	Osteobl	bone
14	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
19	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:55000200-55013400	Weak transcription	Ovary	ovary
22	chr8:55000400-55012600	Weak transcription	NHDF-Ad	bronchial
23	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
24	chr8:55000400-55012800	Weak transcription	NHLF	lung
25	chr8:55001800-55011600	Weak transcription	HUVEC	blood vessel
26	chr8:55001800-55012000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:55002400-55012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:55002800-55012800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:55002800-55012800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:55002800-55013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:55003000-55012000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:55003400-55011400	Strong transcription	A549	lung
33	chr8:55003600-55012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:55003800-55012800	Weak transcription	Fetal Brain Female	brain
35	chr8:55003800-55012800	Weak transcription	Thymus	Thymus
36	chr8:55004600-55012600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:55004800-55011800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:55004800-55012400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:55004800-55013200	Weak transcription	Fetal Stomach	stomach
40	chr8:55005000-55012000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:55005000-55012000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:55005600-55012200	Strong transcription	HSMM	muscle
43	chr8:55005600-55012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:55005800-55011400	Strong transcription	Dnd41	blood
45	chr8:55005800-55012000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:55005800-55012000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:55005800-55012200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:55005800-55013400	Weak transcription	Gastric	stomach
49	chr8:55006200-55013400	Weak transcription	Left Ventricle	heart
50	chr8:55006800-55012200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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