Variant report

Variant	rs9262113
Chromosome Location	chr6:30532278-30532279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30530377..30532484-chr6:30682846..30685653,2	K562	blood:

Variant related genes	Relation type
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2427645	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2516640	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2534816	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2534822	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2894041	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713340	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4947285	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7759666	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9262122	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9262124	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9262113	HIST1H4I	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30526000-30537800	Weak transcription	Small Intestine	intestine
2	chr6:30526000-30538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30526000-30538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30526200-30538200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:30526400-30538000	Weak transcription	HUVEC	blood vessel
6	chr6:30526400-30538000	Weak transcription	NHDF-Ad	bronchial
7	chr6:30526600-30536000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:30526600-30537800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:30526800-30537600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:30526800-30538200	Weak transcription	Fetal Brain Male	brain
11	chr6:30526800-30538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:30527600-30532400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:30527600-30538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:30528800-30532400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:30529000-30532400	Strong transcription	K562	blood
16	chr6:30530600-30537600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:30530600-30538200	Weak transcription	Esophagus	oesophagus
18	chr6:30530800-30533400	Weak transcription	Hela-S3	cervix
19	chr6:30530800-30538000	Weak transcription	Right Ventricle	heart
20	chr6:30531000-30534000	Weak transcription	Ovary	ovary
21	chr6:30531000-30537400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:30531000-30537800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:30531000-30537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:30531000-30538000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:30531000-30538000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:30531000-30538000	Weak transcription	Aorta	Aorta
27	chr6:30531000-30538000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:30531000-30538000	Weak transcription	HSMMtube	muscle
29	chr6:30531000-30538000	Weak transcription	NHEK	skin
30	chr6:30531000-30538200	Weak transcription	Colonic Mucosa	Colon
31	chr6:30531000-30538200	Weak transcription	Gastric	stomach
32	chr6:30531000-30538400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:30531000-30538400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:30531000-30538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:30531200-30535800	Weak transcription	GM12878-XiMat	blood
36	chr6:30531200-30536800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30531200-30537800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:30531200-30537800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:30531200-30537800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:30531200-30537800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:30531200-30538000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:30531200-30538000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:30531200-30538000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:30531200-30538000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:30531200-30538200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:30531200-30538200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:30531200-30538200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:30531200-30538200	Weak transcription	HMEC	breast
49	chr6:30531200-30538200	Weak transcription	NH-A	brain
50	chr6:30531200-30538200	Weak transcription	NHLF	lung

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