Variant report

Variant	rs1076832
Chromosome Location	chr6:30419831-30419832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30292876..30295211-chr6:30419006..30421683,2	K562	blood:
3	chr6:30293711..30295719-chr6:30419664..30421683,2	K562	blood:
4	chr6:30415302..30418095-chr6:30418692..30421060,4	K562	blood:

Variant related genes	Relation type
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12192526	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12205877	0.82[EUR][1000 genomes]
rs12205979	0.82[EUR][1000 genomes]
rs12210448	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12214298	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12214645	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17188743	0.83[AMR][1000 genomes]
rs17195068	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17195089	0.83[AMR][1000 genomes]
rs17410877	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2074502	0.82[AMR][1000 genomes]
rs2157605	0.82[AMR][1000 genomes]
rs34039931	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34111681	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34124993	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34521355	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35118048	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35764894	0.84[EUR][1000 genomes]
rs4711217	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713325	0.82[AMR][1000 genomes]
rs4713326	0.82[AMR][1000 genomes]
rs4713328	0.82[AMR][1000 genomes]
rs6930977	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941668	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7751647	0.82[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	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	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1076832	HLA-DRB5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30417200-30421600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr6:30418400-30421600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr6:30418400-30421600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr6:30419200-30420000	Enhancers	Dnd41	blood
5	chr6:30419200-30421000	Weak transcription	Right Atrium	heart
6	chr6:30419200-30421200	Weak transcription	Right Ventricle	heart
7	chr6:30419200-30421400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:30419200-30421400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr6:30419200-30421400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr6:30419200-30421600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr6:30419200-30421800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:30419200-30421800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:30419200-30428600	Weak transcription	Pancreas	Pancrea
14	chr6:30419400-30420000	Bivalent Enhancer	GM12878-XiMat	blood
15	chr6:30419400-30421200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr6:30419400-30421400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:30419400-30421600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:30419400-30421800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr6:30419600-30420000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr6:30419600-30420000	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr6:30419600-30420000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr6:30419600-30420000	Bivalent Enhancer	HepG2	liver
23	chr6:30419600-30420800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr6:30419600-30421000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr6:30419600-30421200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr6:30419600-30421200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr6:30419600-30421400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr6:30419600-30421600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:30419800-30420000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr6:30419800-30420400	Bivalent Enhancer	Primary T cells from cord blood	blood
31	chr6:30419800-30420600	Weak transcription	Lung	lung
32	chr6:30419800-30421200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:30419800-30421200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr6:30419800-30421400	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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