Variant report

Variant	rs11120091
Chromosome Location	chr1:213306013-213306014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11120087	0.80[AFR][1000 genomes]
rs11120105	0.90[AFR][1000 genomes]
rs11120109	0.80[AFR][1000 genomes]
rs12060400	0.90[AFR][1000 genomes]
rs12061530	0.80[AFR][1000 genomes]
rs12064577	0.90[AFR][1000 genomes]
rs12064585	0.80[AFR][1000 genomes]
rs12064974	0.90[AFR][1000 genomes]
rs12067919	0.90[AFR][1000 genomes]
rs12071832	0.90[AFR][1000 genomes]
rs12074538	0.90[AFR][1000 genomes]
rs12075302	0.90[AFR][1000 genomes]
rs12079331	0.80[AFR][1000 genomes]
rs12085937	0.80[AFR][1000 genomes]
rs12086415	0.90[AFR][1000 genomes]
rs12086986	0.90[AFR][1000 genomes]
rs12087445	0.80[AFR][1000 genomes]
rs12089456	0.80[AFR][1000 genomes]
rs12091457	0.80[AFR][1000 genomes]
rs17020179	0.90[AFR][1000 genomes]
rs17020280	0.90[AFR][1000 genomes]
rs17020291	0.90[AFR][1000 genomes]
rs17020352	0.80[AFR][1000 genomes]
rs17020381	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269400-213308400	Weak transcription	Ovary	ovary
4	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:213281200-213309000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
12	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
15	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:213297400-213308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:213297800-213309200	Weak transcription	Fetal Heart	heart
23	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:213297800-213309600	Weak transcription	Gastric	stomach
25	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
27	chr1:213301000-213308200	Weak transcription	NHDF-Ad	bronchial
28	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:213301000-213374800	Weak transcription	HSMM	muscle
30	chr1:213301200-213309200	Weak transcription	K562	blood
31	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
32	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:213303000-213308000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:213303800-213309200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:213305000-213307000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:213305400-213306200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:213305400-213306200	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:213305400-213306200	Enhancers	NH-A	brain
42	chr1:213305400-213306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:213305400-213306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:213305400-213306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:213305400-213306800	Enhancers	Brain Hippocampus Middle	brain
46	chr1:213305400-213307000	Enhancers	Osteobl	bone
47	chr1:213305400-213307200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:213305400-213307200	Enhancers	HUVEC	blood vessel
49	chr1:213305600-213306400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:213305800-213306200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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