Variant report

Variant	rs56684280
Chromosome Location	chr1:174608620-174608621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1016465	0.84[AFR][1000 genomes]
rs16847044	0.85[AFR][1000 genomes]
rs16847226	0.92[AFR][1000 genomes]
rs57654087	0.92[AFR][1000 genomes]
rs57775442	0.85[AFR][1000 genomes]
rs58501155	0.92[AFR][1000 genomes]
rs59123040	0.92[AFR][1000 genomes]
rs59297292	0.92[AFR][1000 genomes]
rs59692051	0.92[AFR][1000 genomes]
rs60510552	0.92[AFR][1000 genomes]
rs73026418	1.00[AFR][1000 genomes]
rs73026420	1.00[AFR][1000 genomes]
rs73026424	1.00[AFR][1000 genomes]
rs73038687	0.92[AFR][1000 genomes]
rs73040875	1.00[AFR][1000 genomes]
rs73040884	1.00[AFR][1000 genomes]
rs73040885	1.00[AFR][1000 genomes]
rs73040887	1.00[AFR][1000 genomes]
rs73040894	0.92[AFR][1000 genomes]
rs73040897	0.92[AFR][1000 genomes]
rs73040901	0.92[AFR][1000 genomes]
rs73042867	0.92[AFR][1000 genomes]
rs73042870	0.92[AFR][1000 genomes]
rs73042877	0.92[AFR][1000 genomes]
rs73042880	0.92[AFR][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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1803591	chr1:174594575-174642336	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174587600-174609200	Weak transcription	Pancreas	Pancrea
2	chr1:174595400-174609400	Weak transcription	GM12878-XiMat	blood
3	chr1:174595600-174609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:174596600-174609400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:174603200-174616000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:174604200-174608800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:174604600-174613800	Weak transcription	Ovary	ovary
8	chr1:174605400-174612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:174605800-174608800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:174606200-174621600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:174606400-174608800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:174606800-174608800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:174607000-174612000	Weak transcription	Aorta	Aorta
14	chr1:174607000-174612000	Weak transcription	Left Ventricle	heart
15	chr1:174607000-174618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:174607200-174608800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:174607200-174609000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:174607200-174611600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:174607400-174608800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:174607400-174609000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:174607400-174609000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:174607400-174609000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:174607400-174609200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:174607400-174609800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:174607400-174610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:174607400-174611400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:174607400-174613200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:174607400-174613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:174607600-174613000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:174607600-174613200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood

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