Variant report

Variant	rs11806008
Chromosome Location	chr1:10234588-10234589
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	chr1:10233656..10235961-chr1:10237803..10240069,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1074461	0.87[EUR][1000 genomes]
rs11121524	1.00[ASN][1000 genomes]
rs11121525	0.93[EUR][1000 genomes]
rs12074936	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129751	0.83[ASN][1000 genomes]
rs17034501	0.87[ASN][1000 genomes]
rs17034569	1.00[ASN][1000 genomes]
rs2273298	0.86[EUR][1000 genomes]
rs2273299	0.86[EUR][1000 genomes]
rs35316894	0.87[EUR][1000 genomes]
rs6667049	0.90[EUR][1000 genomes]
rs6692491	0.86[EUR][1000 genomes]
rs72864116	0.91[ASN][1000 genomes]
rs72864129	1.00[ASN][1000 genomes]
rs72864132	1.00[ASN][1000 genomes]
rs9783053	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11806008	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
4	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
8	chr1:10218000-10234600	Strong transcription	Liver	Liver
9	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
14	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:10222000-10236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:10222200-10236400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:10223000-10235000	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:10223000-10237800	Weak transcription	Psoas Muscle	Psoas
19	chr1:10224400-10235000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:10224400-10235600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:10224400-10236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:10224800-10236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:10226400-10238800	Weak transcription	NHEK	skin
24	chr1:10227400-10235800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:10227600-10235400	Strong transcription	Brain Cingulate Gyrus	brain
26	chr1:10227600-10235400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:10227600-10235400	Strong transcription	Thymus	Thymus
28	chr1:10227600-10236000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:10227600-10236400	Strong transcription	Primary B cells from cord blood	blood
30	chr1:10227600-10236400	Strong transcription	Primary T cells from cord blood	blood
31	chr1:10227600-10236400	Strong transcription	Fetal Lung	lung
32	chr1:10227600-10236600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:10227600-10236600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:10227600-10236600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:10227800-10235200	Strong transcription	Brain Germinal Matrix	brain
36	chr1:10227800-10236600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:10228000-10235200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr1:10228000-10235400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:10228000-10235400	Strong transcription	Brain Anterior Caudate	brain
40	chr1:10228000-10235400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:10228000-10236600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:10229600-10237800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:10230000-10235600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:10230200-10236000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:10230200-10236400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:10230200-10237000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
48	chr1:10230800-10235600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10230800-10236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:10230800-10236800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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