Variant report

Variant	rs72799436
Chromosome Location	chr2:39233375-39233376
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	chr2:39231626..39234527-chr2:39249875..39251699,2	MCF-7	breast:
2	chr2:39233167..39234800-chr2:39347893..39350126,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11124658	1.00[ASN][1000 genomes]
rs11682081	1.00[ASN][1000 genomes]
rs12478214	1.00[ASN][1000 genomes]
rs72799410	1.00[ASN][1000 genomes]
rs72799415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799481	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72799489	1.00[ASN][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
2	chr2:39206000-39235800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:39210400-39241600	Strong transcription	Adipose Nuclei	Adipose
4	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:39211000-39247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:39211400-39237800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:39211600-39242000	Weak transcription	Stomach Mucosa	stomach
9	chr2:39211800-39239600	Strong transcription	Fetal Intestine Large	intestine
10	chr2:39213400-39234400	Weak transcription	Gastric	stomach
11	chr2:39213400-39234400	Weak transcription	NHEK	skin
12	chr2:39213400-39242200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:39213400-39242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:39213400-39251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:39213400-39259800	Weak transcription	Right Ventricle	heart
16	chr2:39213800-39235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:39213800-39235000	Weak transcription	Small Intestine	intestine
18	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
19	chr2:39214200-39235400	Weak transcription	Hela-S3	cervix
20	chr2:39217400-39241800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:39217600-39234200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:39217600-39242400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:39217600-39244200	Strong transcription	Primary B cells from cord blood	blood
24	chr2:39218800-39241200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:39219000-39259200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:39219200-39244000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:39219400-39242600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:39220600-39237000	Strong transcription	Fetal Thymus	thymus
29	chr2:39221000-39241200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:39223600-39235000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:39224400-39233800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:39225400-39241800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:39225600-39235600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:39225600-39241600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:39225600-39241600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:39225600-39241600	Strong transcription	Placenta	Placenta
37	chr2:39225800-39233600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:39225800-39238000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:39225800-39241200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:39226200-39241600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:39226400-39235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:39226600-39235000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:39227000-39235800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:39227200-39235000	Weak transcription	Esophagus	oesophagus
45	chr2:39227400-39234400	Weak transcription	Aorta	Aorta
46	chr2:39227600-39303400	Weak transcription	Colonic Mucosa	Colon
47	chr2:39228000-39241200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:39228400-39235000	Weak transcription	Spleen	Spleen
49	chr2:39228800-39235800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:39229000-39234400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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