Variant report

Variant	rs72944838
Chromosome Location	chr2:98595409-98595410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6739810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944402	0.87[AFR][1000 genomes]
rs72944837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944858	1.00[AMR][1000 genomes]
rs72944860	1.00[AMR][1000 genomes]
rs72944866	1.00[AMR][1000 genomes]
rs72946446	0.87[AFR][1000 genomes]
rs72946451	0.87[AFR][1000 genomes]
rs72951165	0.87[AFR][1000 genomes]
rs72951167	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:98583600-98595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:98584600-98597000	Weak transcription	Thymus	Thymus
4	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:98587000-98595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:98587400-98599600	Weak transcription	Spleen	Spleen
7	chr2:98587800-98600000	Weak transcription	Gastric	stomach
8	chr2:98588200-98596000	Weak transcription	Stomach Mucosa	stomach
9	chr2:98588600-98598200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98589200-98597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:98591800-98599600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:98591800-98599600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:98592000-98595800	Weak transcription	Pancreas	Pancrea
14	chr2:98592200-98606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:98592400-98599200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:98592600-98603000	Weak transcription	Ovary	ovary
17	chr2:98592600-98604600	Weak transcription	Fetal Brain Male	brain
18	chr2:98593200-98606400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:98594600-98602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:98594800-98596000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:98594800-98596200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:98594800-98596200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:98594800-98596600	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr2:98594800-98597000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr2:98594800-98597000	ZNF genes & repeats	Fetal Lung	lung
26	chr2:98594800-98597400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:98595000-98595600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:98595000-98596000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:98595000-98596200	ZNF genes & repeats	HSMM	muscle
30	chr2:98595000-98596400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr2:98595000-98597000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:98595000-98597000	ZNF genes & repeats	A549	lung
33	chr2:98595200-98595600	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr2:98595200-98595800	Weak transcription	Primary T cells from cord blood	blood
35	chr2:98595200-98596000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:98595200-98596000	ZNF genes & repeats	Liver	Liver
37	chr2:98595200-98596200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:98595200-98597400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:98595400-98595800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr2:98595400-98596000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr2:98595400-98596000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr2:98595400-98596200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:98595400-98596200	ZNF genes & repeats	Aorta	Aorta
44	chr2:98595400-98596400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr2:98595400-98597000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr2:98595400-98597200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:98595400-98597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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