Variant report

Variant	rs74121615
Chromosome Location	chr1:169280319-169280320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59000970	1.00[AFR][1000 genomes]
rs60575235	0.90[AFR][1000 genomes]
rs74121609	1.00[AFR][1000 genomes]
rs74125209	0.84[AFR][1000 genomes]
rs74125214	0.95[AFR][1000 genomes]
rs74125217	0.85[AFR][1000 genomes]
rs74125220	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
2	chr1:169254800-169281000	Weak transcription	Dnd41	blood
3	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
6	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
7	chr1:169264000-169281400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
9	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
10	chr1:169265200-169281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:169265400-169281200	Weak transcription	NHDF-Ad	bronchial
12	chr1:169265800-169281000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:169267000-169281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:169267800-169281200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:169269000-169281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:169269200-169281400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:169269400-169281600	Weak transcription	HUVEC	blood vessel
18	chr1:169269600-169281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:169271800-169297200	Weak transcription	Psoas Muscle	Psoas
21	chr1:169273600-169281000	Weak transcription	A549	lung
22	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:169275200-169281400	Weak transcription	Fetal Thymus	thymus
24	chr1:169275600-169280400	Weak transcription	Fetal Lung	lung
25	chr1:169275600-169281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:169276400-169281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:169276400-169281200	Weak transcription	NH-A	brain
28	chr1:169276400-169281400	Weak transcription	HSMMtube	muscle
29	chr1:169276800-169304600	Weak transcription	Ovary	ovary
30	chr1:169277000-169281200	Weak transcription	HSMM	muscle
31	chr1:169277000-169294600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:169277000-169306200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:169278000-169285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:169279000-169281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:169279000-169281200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:169279000-169281400	Weak transcription	Primary B cells from cord blood	blood
37	chr1:169279000-169281400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:169279000-169281400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:169279000-169282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:169279000-169288400	Weak transcription	Brain Angular Gyrus	brain
41	chr1:169279000-169291200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:169279000-169293800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:169279000-169295600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:169279200-169281200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:169279200-169281400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:169279200-169281400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:169279200-169282000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:169279200-169287200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:169279200-169296000	Weak transcription	Primary T cells from cord blood	blood
50	chr1:169279400-169281600	Weak transcription	Monocytes-CD14+_RO01746	blood

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