Variant report

Variant	rs72801484
Chromosome Location	chr2:39651836-39651837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39647976..39656890-chr2:39661783..39666548,15	MCF-7	breast:
2	chr2:39646458..39648689-chr2:39648799..39652101,4	K562	blood:
3	chr2:39651403..39653951-chr2:39655387..39658790,4	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4670275	0.80[AMR][1000 genomes]
rs6732611	0.82[ASN][1000 genomes]
rs72801478	0.87[AMR][1000 genomes];0.85[EUR][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	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
2	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
3	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
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
3	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
4	chr2:39639600-39657200	Weak transcription	HMEC	breast
5	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:39640800-39656800	Weak transcription	NH-A	brain
7	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:39644200-39661600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:39644400-39654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:39644400-39654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:39645000-39658800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:39645200-39658200	Weak transcription	Right Ventricle	heart
15	chr2:39646000-39652400	Weak transcription	Brain Substantia Nigra	brain
16	chr2:39646000-39660200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:39646200-39652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:39646200-39653200	Weak transcription	Stomach Mucosa	stomach
19	chr2:39646200-39656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:39646200-39658000	Weak transcription	Liver	Liver
21	chr2:39647000-39657400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:39647200-39652600	Weak transcription	Fetal Heart	heart
23	chr2:39647200-39658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:39647200-39659000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:39647400-39652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:39647400-39652000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:39647400-39652400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:39647400-39654200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:39647400-39656600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:39647400-39657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:39647400-39658400	Weak transcription	Small Intestine	intestine
32	chr2:39647400-39658600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:39647600-39652000	Weak transcription	Osteobl	bone
34	chr2:39647800-39660200	Weak transcription	Pancreas	Pancrea
35	chr2:39648000-39652000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:39648000-39654200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:39648400-39658200	Weak transcription	Aorta	Aorta
38	chr2:39649400-39652400	Weak transcription	Primary T cells from cord blood	blood
39	chr2:39649600-39654000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:39649800-39659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:39650000-39658600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:39650200-39653200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:39650200-39655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:39650200-39655200	Enhancers	HepG2	liver
45	chr2:39650400-39653600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:39650400-39655400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:39650600-39652400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:39650600-39652400	Weak transcription	NHLF	lung
49	chr2:39650600-39654400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:39650600-39656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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