Variant report

Variant	rs72909154
Chromosome Location	chr2:38981064-38981065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38975148..38982473-chr2:39000165..39007764,21	K562	blood:
2	chr2:38879772..38882593-chr2:38978947..38981476,2	K562	blood:
3	chr2:38977122..38981176-chr2:38994666..38999219,6	K562	blood:
4	chr2:38980271..38983195-chr2:38988921..38991743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232114	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000227238	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17023056	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3099964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909121	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909158	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers 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	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979000-38981400	Weak transcription	Ovary	ovary
2	chr2:38979200-38981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:38979200-38981400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:38979200-38981400	Weak transcription	Right Atrium	heart
5	chr2:38979200-38983800	Weak transcription	HSMM	muscle
6	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:38979400-38981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:38979400-38981200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:38979400-38981200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:38979400-38981200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:38979400-38981200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:38979400-38981200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:38979400-38981400	Weak transcription	NHDF-Ad	bronchial
14	chr2:38979400-38981400	Weak transcription	Osteobl	bone
15	chr2:38979400-38981600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:38979600-38981200	Weak transcription	Primary T cells from cord blood	blood
17	chr2:38979800-38981200	Weak transcription	Dnd41	blood
18	chr2:38979800-38981400	Weak transcription	A549	lung
19	chr2:38980800-38981200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:38980800-38981200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:38980800-38981200	Enhancers	GM12878-XiMat	blood
22	chr2:38980800-38981400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:38980800-38981600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:38980800-38982000	Enhancers	HepG2	liver
25	chr2:38980800-38982400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:38981000-38981200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:38981000-38981200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:38981000-38981200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:38981000-38981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:38981000-38981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:38981000-38981200	Enhancers	Liver	Liver
32	chr2:38981000-38981400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:38981000-38981400	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:38981000-38981400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:38981000-38981400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:38981000-38981400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:38981000-38981400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:38981000-38981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:38981000-38981400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:38981000-38981400	Enhancers	Fetal Intestine Small	intestine
41	chr2:38981000-38981400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:38981000-38981600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:38981000-38981600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:38981000-38981600	Enhancers	Stomach Mucosa	stomach
45	chr2:38981000-38981800	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:38981000-38982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:38981000-38982000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:38981000-38982000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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