Variant report

Variant	rs72864841
Chromosome Location	chr2:37577023-37577024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37573383..37576359-chr2:37576591..37578098,2	K562	blood:
2	chr2:37571184..37574506-chr2:37575236..37577117,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57427583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72864829	0.81[AFR][1000 genomes]
rs72864832	0.81[AFR][1000 genomes]
rs72864834	0.81[AFR][1000 genomes]
rs72864845	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37572600-37577200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:37572600-37577200	Weak transcription	Liver	Liver
3	chr2:37572600-37577200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:37572600-37577200	Weak transcription	Left Ventricle	heart
5	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37572800-37577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:37572800-37577200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:37572800-37577200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:37572800-37577200	Weak transcription	Right Atrium	heart
10	chr2:37572800-37577200	Weak transcription	HMEC	breast
11	chr2:37572800-37577200	Weak transcription	Osteobl	bone
12	chr2:37572800-37577600	Weak transcription	NHEK	skin
13	chr2:37573400-37577600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:37573600-37578800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:37575000-37578600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:37575200-37577400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:37575200-37577400	Enhancers	HSMMtube	muscle
18	chr2:37575200-37577600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:37575200-37577800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:37575200-37578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:37575200-37578600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:37575400-37577200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:37575400-37577800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:37575600-37577200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:37575600-37577600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:37575600-37578000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:37575800-37577800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:37576000-37577200	Weak transcription	Fetal Lung	lung
29	chr2:37576000-37577200	Enhancers	A549	lung
30	chr2:37576000-37577400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:37576000-37577800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:37576000-37578200	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:37576000-37578600	Enhancers	NHDF-Ad	bronchial
34	chr2:37576000-37578800	Enhancers	Colon Smooth Muscle	Colon
35	chr2:37576200-37577600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:37576200-37579400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:37576400-37577200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:37576400-37577200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:37576400-37577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:37576400-37578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:37576600-37577400	Enhancers	Spleen	Spleen
42	chr2:37576600-37577600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:37576600-37577600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:37576600-37577600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:37576600-37578400	Enhancers	Fetal Kidney	kidney
46	chr2:37576600-37578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:37576800-37577400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:37576800-37577400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:37576800-37577400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:37576800-37577800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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