Variant report

Variant	rs9278027
Chromosome Location	chr6:33340510-33340511
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	chr6:33329577..33332620-chr6:33339048..33342098,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1106606	0.87[EUR][1000 genomes]
rs11751696	0.88[EUR][1000 genomes]
rs11753355	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11756267	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11756767	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2235982	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41267647	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41271245	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55699469	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7752202	0.83[EUR][1000 genomes]
rs9277997	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9278001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278006	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278007	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9278015	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9278019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278028	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9278036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278039	0.82[EUR][1000 genomes]
rs9278040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278043	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9278044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278045	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278046	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278049	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv970110	chr6:33331311-33342922	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9278027	HLA-DRB5	cis	parietal	SCAN
rs9278027	UHRF1BP1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33333600-33340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33339800-33344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:33340000-33341000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:33340000-33341000	Enhancers	Psoas Muscle	Psoas
5	chr6:33340000-33341000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr6:33340000-33341200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:33340000-33344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:33340200-33340600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:33340200-33340600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:33340200-33340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:33340200-33340800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:33340200-33341000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:33340200-33341000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:33340200-33341000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:33340200-33341000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:33340200-33341000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:33340200-33341200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:33340200-33341200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:33340200-33341200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:33340200-33341400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:33340200-33341400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:33340200-33341400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:33340200-33341400	Enhancers	K562	blood
24	chr6:33340200-33342400	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:33340200-33343200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:33340200-33344000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:33340200-33344400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr6:33340400-33340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:33340400-33340600	Enhancers	Fetal Muscle Leg	muscle
30	chr6:33340400-33340600	Enhancers	A549	lung
31	chr6:33340400-33340800	Enhancers	GM12878-XiMat	blood
32	chr6:33340400-33341000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:33340400-33341000	Enhancers	Fetal Kidney	kidney
34	chr6:33340400-33341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:33340400-33342600	Weak transcription	Osteobl	bone
36	chr6:33340400-33342800	Enhancers	Fetal Thymus	thymus
37	chr6:33340400-33342800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:33340400-33344000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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