Variant report

Variant	rs72960803
Chromosome Location	chr1:92794512-92794513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs35258161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56871729	1.00[AFR][1000 genomes]
rs56950188	1.00[AFR][1000 genomes]
rs59302389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59912348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60450096	0.93[AFR][1000 genomes]
rs61638989	1.00[AMR][1000 genomes]
rs72956870	1.00[AMR][1000 genomes]
rs72956883	1.00[AMR][1000 genomes]
rs72958741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958744	0.93[AFR][1000 genomes]
rs72958751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960828	0.93[AFR][1000 genomes]
rs72960867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531207	1.00[AMR][1000 genomes]
rs7538609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
2	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
4	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
5	chr1:92778000-92799200	Weak transcription	Hela-S3	cervix
6	chr1:92782200-92803400	Weak transcription	Stomach Mucosa	stomach
7	chr1:92784400-92808200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:92789600-92796000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:92789800-92812000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:92789800-92830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:92790000-92815200	Weak transcription	Psoas Muscle	Psoas
12	chr1:92790400-92794600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:92790400-92797800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:92790400-92803600	Weak transcription	HUVEC	blood vessel
15	chr1:92790800-92802200	Weak transcription	HepG2	liver
16	chr1:92791200-92795800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr1:92791400-92795400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:92791400-92795800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr1:92791600-92794600	ZNF genes & repeats	Fetal Lung	lung
20	chr1:92791600-92794800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr1:92791600-92795600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr1:92791600-92795800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:92791600-92796200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:92791600-92796600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr1:92792200-92795000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:92792400-92794600	Weak transcription	NHLF	lung
27	chr1:92792400-92794800	Weak transcription	Fetal Kidney	kidney
28	chr1:92792400-92795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:92792400-92799000	Weak transcription	Osteobl	bone
30	chr1:92792400-92817400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:92792400-92823600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:92792600-92794600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:92792600-92794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:92792600-92794600	Weak transcription	Liver	Liver
35	chr1:92792600-92794600	Weak transcription	Thymus	Thymus
36	chr1:92792600-92794600	Weak transcription	Spleen	Spleen
37	chr1:92792600-92794600	Weak transcription	HSMMtube	muscle
38	chr1:92792600-92794800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:92792600-92794800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:92792600-92794800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:92792600-92794800	Weak transcription	Gastric	stomach
42	chr1:92792600-92794800	Weak transcription	Left Ventricle	heart
43	chr1:92792600-92794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:92792600-92799200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:92792600-92801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:92792600-92807600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:92792600-92807800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:92792600-92812400	Weak transcription	Right Ventricle	heart
49	chr1:92792600-92815000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:92792600-92846600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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