Variant report

Variant	rs72929184
Chromosome Location	chr2:39615913-39615914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39613589..39616397-chr2:39663811..39666348,2	K562	blood:
2	chr2:39613441..39616248-chr2:39657678..39659490,2	MCF-7	breast:
3	chr2:39614635..39616169-chr2:39619014..39621210,2	MCF-7	breast:
4	chr2:39613765..39616642-chr2:39620557..39622902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000252239	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12105018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57107827	0.84[AMR][1000 genomes]
rs57164521	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58019817	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61344670	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6706951	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6721740	0.81[AFR][1000 genomes]
rs6722096	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725496	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725704	0.84[AMR][1000 genomes]
rs6732290	0.82[AFR][1000 genomes]
rs6759388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72914206	0.84[AMR][1000 genomes]
rs72925244	0.83[AFR][1000 genomes]
rs72925249	0.81[AFR][1000 genomes]
rs72925250	0.81[AFR][1000 genomes]
rs72925252	0.81[AFR][1000 genomes]
rs72925278	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925283	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925290	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927103	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927107	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927108	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927110	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927119	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927143	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72929164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931131	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931150	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931159	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931161	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931172	0.84[AMR][1000 genomes]
rs7566368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7581123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589593	0.80[AFR][1000 genomes]
rs7592925	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609233	0.89[AFR][1000 genomes];1.00[AMR][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	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
5	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
9	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
12	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
16	chr2:39609200-39621600	Weak transcription	Lung	lung
17	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:39609400-39621600	Weak transcription	HSMM	muscle
20	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:39609600-39621600	Weak transcription	NH-A	brain
25	chr2:39609600-39621600	Weak transcription	Osteobl	bone
26	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:39610400-39617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:39612000-39616000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:39613000-39621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:39613200-39618200	Enhancers	Colon Smooth Muscle	Colon
34	chr2:39613400-39621200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:39613600-39616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:39613600-39621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:39613600-39621600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:39614000-39616000	Enhancers	Right Atrium	heart
40	chr2:39614000-39619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:39614600-39616000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:39614600-39616000	Enhancers	Aorta	Aorta
44	chr2:39614600-39616000	Enhancers	Fetal Lung	lung
45	chr2:39614600-39616800	Enhancers	Fetal Heart	heart
46	chr2:39614600-39617800	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:39614600-39617800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:39614600-39618000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:39614800-39617400	Weak transcription	Ovary	ovary
50	chr2:39614800-39618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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