Variant report

Variant	rs60408236
Chromosome Location	chr1:154427357-154427358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55900922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115747	0.91[AFR][1000 genomes];1.00[AMR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154414800-154436000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154416200-154435800	Strong transcription	Liver	Liver
3	chr1:154417400-154428000	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:154418000-154428000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:154418000-154440000	Weak transcription	Small Intestine	intestine
6	chr1:154418600-154432800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr1:154419200-154432200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:154419200-154435800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:154420800-154428000	Strong transcription	Colon Smooth Muscle	Colon
10	chr1:154421800-154431800	Strong transcription	Rectal Smooth Muscle	rectum
11	chr1:154422600-154434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:154422600-154437600	Weak transcription	Pancreas	Pancrea
13	chr1:154424400-154427800	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:154424800-154436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:154425000-154429000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:154425000-154437200	Weak transcription	Fetal Stomach	stomach
17	chr1:154425600-154428200	Enhancers	Primary B cells from cord blood	blood
18	chr1:154425800-154427400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr1:154426000-154427800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:154426000-154427800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:154426000-154434200	Weak transcription	Placenta	Placenta
22	chr1:154426000-154436200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:154426200-154427800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:154426200-154427800	Strong transcription	Left Ventricle	heart
25	chr1:154426200-154428600	Strong transcription	Gastric	stomach
26	chr1:154426200-154431000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:154426200-154433600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:154426200-154434400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:154426200-154436000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:154426400-154427800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:154426400-154427800	Strong transcription	Spleen	Spleen
32	chr1:154426400-154427800	Enhancers	GM12878-XiMat	blood
33	chr1:154426400-154428000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:154426400-154429000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:154426400-154432000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:154426400-154432800	Strong transcription	Lung	lung
37	chr1:154426400-154434800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:154426400-154435600	Weak transcription	Stomach Mucosa	stomach
39	chr1:154426400-154436000	Weak transcription	Esophagus	oesophagus
40	chr1:154426400-154436000	Weak transcription	Fetal Lung	lung
41	chr1:154426400-154438000	Weak transcription	Psoas Muscle	Psoas
42	chr1:154426600-154427400	Weak transcription	Colonic Mucosa	Colon
43	chr1:154426600-154427800	Strong transcription	Adipose Nuclei	Adipose
44	chr1:154426600-154428000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:154426600-154429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:154426600-154429000	Weak transcription	Aorta	Aorta
47	chr1:154426600-154430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:154426600-154431600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:154426600-154431600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:154426600-154431600	Weak transcription	Brain Anterior Caudate	brain

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