Variant report

Variant	rs11774474
Chromosome Location	chr8:10192377-10192378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11779480	1.00[ASN][1000 genomes]
rs17151637	1.00[ASN][1000 genomes]
rs34795112	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57737477	1.00[ASN][1000 genomes]
rs6983361	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71516568	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73536222	1.00[ASN][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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11774474	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs11774474	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10190000-10192800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr8:10190400-10193200	Enhancers	Fetal Heart	heart
3	chr8:10190400-10193400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:10190600-10192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:10190600-10193400	Enhancers	Spleen	Spleen
6	chr8:10191000-10193000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:10191200-10192800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr8:10191400-10192800	Flanking Active TSS	Fetal Thymus	thymus
9	chr8:10191400-10192800	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:10191400-10192800	Flanking Active TSS	NH-A	brain
11	chr8:10191600-10192400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:10191600-10192400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:10191600-10192400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:10191600-10192400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:10191600-10192800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr8:10191600-10192800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:10191600-10192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:10191600-10192800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:10191600-10193000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:10191600-10193000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr8:10191800-10192400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:10191800-10192600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:10191800-10192600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr8:10191800-10192600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr8:10191800-10192600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:10191800-10192600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:10191800-10192600	Active TSS	Esophagus	oesophagus
28	chr8:10191800-10192600	Active TSS	Fetal Intestine Large	intestine
29	chr8:10191800-10192600	Active TSS	Fetal Kidney	kidney
30	chr8:10191800-10192600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:10191800-10192600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:10191800-10192600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:10191800-10192600	Active TSS	HSMM	muscle
34	chr8:10191800-10192800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:10191800-10192800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:10191800-10192800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr8:10191800-10192800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:10191800-10192800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:10191800-10192800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:10191800-10192800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:10191800-10192800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:10191800-10192800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:10191800-10192800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:10191800-10192800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:10191800-10192800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:10191800-10192800	Active TSS	Brain Angular Gyrus	brain
47	chr8:10191800-10192800	Active TSS	Brain Cingulate Gyrus	brain
48	chr8:10191800-10192800	Active TSS	Brain Hippocampus Middle	brain
49	chr8:10191800-10192800	Active TSS	Brain Substantia Nigra	brain
50	chr8:10191800-10192800	Active TSS	Colon Smooth Muscle	Colon

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