Variant report

Variant	rs72944839
Chromosome Location	chr2:98600861-98600862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98599318..98603121-chr2:98611539..98613337,3	K562	blood:
2	chr2:98600571..98603645-chr2:98610027..98612734,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs61043662	0.82[AFR][1000 genomes]
rs6739810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942846	0.82[AFR][1000 genomes]
rs72942852	0.82[AFR][1000 genomes]
rs72942859	0.82[AFR][1000 genomes]
rs72942873	0.82[AFR][1000 genomes]
rs72944837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944838	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]
rs72946404	0.86[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98592200-98606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:98592600-98603000	Weak transcription	Ovary	ovary
4	chr2:98592600-98604600	Weak transcription	Fetal Brain Male	brain
5	chr2:98593200-98606400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:98594600-98602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:98595800-98606400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:98596000-98609400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:98596200-98607800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:98596200-98607800	Weak transcription	Lung	lung
11	chr2:98596400-98602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:98596600-98602600	Weak transcription	HMEC	breast
13	chr2:98596800-98608400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:98597000-98602800	Weak transcription	Dnd41	blood
15	chr2:98597000-98605600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:98597000-98609800	Weak transcription	Fetal Stomach	stomach
17	chr2:98597200-98604600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:98597400-98601000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:98597400-98601600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:98597400-98602600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:98597800-98602400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:98598200-98607800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:98598600-98603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:98598600-98604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:98598600-98606200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
27	chr2:98599000-98601000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:98599000-98602800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:98599200-98601200	Enhancers	Psoas Muscle	Psoas
30	chr2:98599400-98601000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:98599400-98601200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:98599400-98603000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:98599600-98601000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:98599600-98601000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:98599800-98601000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:98599800-98601200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:98599800-98601200	Enhancers	Liver	Liver
38	chr2:98599800-98603000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:98599800-98606000	Weak transcription	HSMM	muscle
40	chr2:98600000-98601200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:98600000-98607600	Weak transcription	NHEK	skin
42	chr2:98600200-98601200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:98600200-98603000	Weak transcription	Small Intestine	intestine
44	chr2:98600200-98604200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:98600200-98604400	Weak transcription	Primary B cells from cord blood	blood
46	chr2:98600200-98604400	Weak transcription	Brain Germinal Matrix	brain
47	chr2:98600200-98607800	Weak transcription	Spleen	Spleen
48	chr2:98600200-98609400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:98600400-98602000	Weak transcription	Stomach Mucosa	stomach

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