Variant report

Variant	rs72803106
Chromosome Location	chr2:39724098-39724099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39722036..39725199-chr2:39726283..39729688,3	K562	blood:
2	chr2:39723509..39726047-chr2:39733259..39735822,2	K562	blood:
3	chr2:39662742..39664801-chr2:39722486..39724234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10180761	0.84[AMR][1000 genomes]
rs11900495	0.85[EUR][1000 genomes]
rs12476783	0.83[EUR][1000 genomes]
rs13420542	0.92[EUR][1000 genomes]
rs17466784	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17467001	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][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	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
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39697400-39724200	Weak transcription	Gastric	stomach
2	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
4	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
5	chr2:39720000-39724800	Enhancers	NHLF	lung
6	chr2:39720400-39726000	Weak transcription	Stomach Mucosa	stomach
7	chr2:39721600-39724400	Enhancers	Fetal Heart	heart
8	chr2:39721800-39724800	Enhancers	NH-A	brain
9	chr2:39721800-39724800	Enhancers	Osteobl	bone
10	chr2:39722200-39730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:39722400-39724200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:39722400-39724200	Weak transcription	Fetal Stomach	stomach
13	chr2:39722400-39724200	Weak transcription	HepG2	liver
14	chr2:39722400-39724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:39722400-39725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:39722400-39726000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:39722400-39726000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:39722400-39726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:39722400-39726000	Weak transcription	Placenta	Placenta
20	chr2:39722400-39726000	Weak transcription	Pancreas	Pancrea
21	chr2:39722400-39726000	Weak transcription	Psoas Muscle	Psoas
22	chr2:39722400-39726000	Weak transcription	Right Atrium	heart
23	chr2:39722400-39726000	Weak transcription	Right Ventricle	heart
24	chr2:39722400-39726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:39722400-39726600	Weak transcription	Left Ventricle	heart
26	chr2:39722400-39726600	Weak transcription	Ovary	ovary
27	chr2:39722400-39727200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:39722400-39727600	Weak transcription	Small Intestine	intestine
31	chr2:39722400-39731200	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:39722600-39726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:39722600-39726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:39722600-39726000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:39722600-39726000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:39722600-39726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:39722600-39726000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:39722600-39726200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:39722600-39726200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:39722600-39726200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:39722600-39726600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:39722600-39727400	Weak transcription	K562	blood
43	chr2:39722600-39731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:39722800-39724400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:39722800-39724800	Enhancers	NHDF-Ad	bronchial
46	chr2:39722800-39725000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:39722800-39726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:39722800-39726400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:39722800-39726600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:39722800-39727600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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