Variant report

Variant	rs11265623
Chromosome Location	chr1:154454674-154454675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4393148	0.81[AFR][1000 genomes]
rs4845632	0.81[AFR][1000 genomes]
rs9728545	0.81[AFR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154427800-154464800	Weak transcription	Ovary	ovary
2	chr1:154438400-154457800	Weak transcription	Pancreas	Pancrea
3	chr1:154438400-154458400	Weak transcription	Gastric	stomach
4	chr1:154438400-154463400	Weak transcription	Esophagus	oesophagus
5	chr1:154439400-154457600	Weak transcription	Placenta	Placenta
6	chr1:154440000-154458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:154442400-154455200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:154442400-154455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:154442800-154455600	Weak transcription	Left Ventricle	heart
11	chr1:154442800-154456400	Weak transcription	Spleen	Spleen
12	chr1:154443000-154456400	Weak transcription	Right Ventricle	heart
13	chr1:154443000-154464400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:154447600-154455800	Weak transcription	Lung	lung
15	chr1:154447800-154458400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:154448600-154458200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:154449800-154456400	Weak transcription	Hela-S3	cervix
18	chr1:154450000-154457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:154450000-154462400	Weak transcription	Colonic Mucosa	Colon
20	chr1:154450200-154456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:154451400-154456400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:154451400-154456600	Weak transcription	NHEK	skin
23	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:154451800-154456800	Genic enhancers	HUVEC	blood vessel
25	chr1:154452400-154456600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:154452400-154457000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:154452400-154457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:154452400-154457600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:154452400-154458200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:154452600-154458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:154452800-154456400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:154452800-154457600	Weak transcription	Fetal Lung	lung
33	chr1:154452800-154458000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:154452800-154458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:154452800-154458400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:154452800-154458400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:154452800-154458400	Weak transcription	Fetal Stomach	stomach
38	chr1:154452800-154458400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:154453000-154457000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:154453000-154458200	Weak transcription	Liver	Liver
41	chr1:154453000-154458200	Weak transcription	Brain Anterior Caudate	brain
42	chr1:154453000-154458200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:154453600-154455600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:154453600-154456800	Weak transcription	A549	lung
45	chr1:154453600-154457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:154453800-154455600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:154454000-154455000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:154454000-154456600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:154454000-154457800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:154454000-154457800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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