Variant report

Variant	rs72811065
Chromosome Location	chr2:99450139-99450140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99345811..99349934-chr2:99448435..99450285,3	MCF-7	breast:
2	chr2:99443633..99446031-chr2:99448768..99450507,2	K562	blood:
3	chr2:99449234..99452452-chr2:99458195..99461216,3	MCF-7	breast:
4	chr2:99344923..99349258-chr2:99450100..99455296,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

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

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

rs_ID	r²[population]
rs12232948	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1983353	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6711639	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6733135	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72811007	0.89[AFR][1000 genomes];0.91[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:99443600-99450400	Weak transcription	Pancreas	Pancrea
6	chr2:99444200-99450800	Enhancers	HepG2	liver
7	chr2:99444200-99451000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:99445600-99450800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:99446000-99450200	Weak transcription	Right Atrium	heart
10	chr2:99446400-99451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:99446400-99451600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:99446800-99452000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:99447000-99450400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:99447600-99451000	Enhancers	Left Ventricle	heart
15	chr2:99448400-99451000	Enhancers	Lung	lung
16	chr2:99448400-99454000	Enhancers	Fetal Thymus	thymus
17	chr2:99448600-99450600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:99448600-99450800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:99448600-99451000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:99448800-99452400	Enhancers	HUVEC	blood vessel
21	chr2:99449000-99450400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:99449000-99450400	Weak transcription	Right Ventricle	heart
23	chr2:99449000-99450600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:99449000-99451000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:99449000-99451000	Enhancers	Brain Anterior Caudate	brain
26	chr2:99449000-99452200	Enhancers	Dnd41	blood
27	chr2:99449200-99450400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:99449200-99450800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr2:99449200-99451400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:99449400-99450800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:99449400-99451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:99449400-99451000	Enhancers	Spleen	Spleen
33	chr2:99449400-99454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:99449600-99450600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:99449600-99450600	Enhancers	HMEC	breast
36	chr2:99449600-99450800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:99449600-99450800	Enhancers	Adipose Nuclei	Adipose
38	chr2:99449600-99450800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:99449600-99450800	Enhancers	Gastric	stomach
40	chr2:99449600-99452200	Weak transcription	Esophagus	oesophagus
41	chr2:99449800-99450200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:99449800-99450200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:99449800-99450400	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:99449800-99450400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:99449800-99450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:99449800-99450600	Enhancers	Stomach Mucosa	stomach
47	chr2:99449800-99450600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:99449800-99451000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:99450000-99450800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:99450000-99454600	Weak transcription	Brain Angular Gyrus	brain

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