Variant report

Variant	rs72911333
Chromosome Location	chr2:73757863-73757864
allele	C/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:27)

rs_ID	r²[population]
rs57306374	1.00[AFR][1000 genomes]
rs57934429	1.00[AFR][1000 genomes]
rs57944776	1.00[AFR][1000 genomes]
rs58030479	1.00[AFR][1000 genomes]
rs58093963	1.00[AFR][1000 genomes]
rs58934547	1.00[AFR][1000 genomes]
rs60200911	1.00[AFR][1000 genomes]
rs72907389	1.00[AFR][1000 genomes]
rs72907392	1.00[AFR][1000 genomes]
rs72907402	1.00[AFR][1000 genomes]
rs72909304	1.00[AFR][1000 genomes]
rs72909313	1.00[AFR][1000 genomes]
rs72909353	1.00[AFR][1000 genomes]
rs72909366	0.86[AFR][1000 genomes]
rs72909378	1.00[AFR][1000 genomes]
rs72909382	1.00[AFR][1000 genomes]
rs72909392	1.00[AFR][1000 genomes]
rs72911304	1.00[AFR][1000 genomes]
rs72911350	1.00[AFR][1000 genomes]
rs72913432	1.00[AFR][1000 genomes]
rs72913438	1.00[AFR][1000 genomes]
rs72913457	1.00[AFR][1000 genomes]
rs72913460	1.00[AFR][1000 genomes]
rs72913478	1.00[AFR][1000 genomes]
rs72913480	1.00[AFR][1000 genomes]
rs72913485	1.00[AFR][1000 genomes]
rs72913489	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731600-73759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
3	chr2:73736400-73761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:73741000-73758800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:73741000-73759400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:73741000-73767400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:73744200-73759000	Weak transcription	HSMMtube	muscle
8	chr2:73744200-73799800	Weak transcription	NH-A	brain
9	chr2:73744600-73764400	Weak transcription	HSMM	muscle
10	chr2:73746000-73765200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:73747800-73786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:73748000-73758800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:73748000-73762000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:73751800-73759400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:73752600-73759800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:73752600-73762600	Weak transcription	Fetal Kidney	kidney
17	chr2:73753800-73758200	ZNF genes & repeats	Dnd41	blood
18	chr2:73753800-73758600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:73754400-73758200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:73754400-73760000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:73754600-73762000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:73754800-73759000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:73754800-73759200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr2:73755200-73760000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:73755600-73758400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr2:73755600-73758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:73755800-73758400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:73756000-73766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:73756200-73758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:73756200-73758200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:73756200-73758200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr2:73756200-73759400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr2:73756400-73758200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:73756400-73758200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr2:73756400-73758400	Weak transcription	Liver	Liver
36	chr2:73756400-73758600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr2:73756400-73758800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:73756400-73758800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:73756400-73758800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:73756400-73759000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:73756400-73765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:73756600-73758200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr2:73756600-73758200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr2:73756600-73758800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr2:73756600-73758800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:73756600-73758800	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr2:73756600-73758800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr2:73756600-73759200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr2:73756600-73759400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:73756800-73758200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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