Variant report

Variant	rs72999319
Chromosome Location	chr3:150182514-150182515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150180024..150184025-chr3:150205497..150208390,3	K562	blood:
2	chr3:150181935..150183846-chr3:150195693..150198379,2	MCF-7	breast:
3	chr3:150179991..150182709-chr3:150186253..150188637,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSC22D2-1	chr3:150182256-150184187	XLOC_002872
2	lnc-TSC22D2-1	chr3:150182256-150184174	NONHSAT092690
3	lnc-TSC22D2-1	chr3:150181245-150184218	ENSG00000261050.1

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55857164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56203514	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58143991	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59185841	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653532	1.00[AMR][1000 genomes]
rs60274646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015726	1.00[AMR][1000 genomes]
rs61485586	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007760	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007763	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007779	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009403	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73869233	1.00[AMR][1000 genomes]
rs9917800	0.85[AFR][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	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150165600-150187200	Weak transcription	Small Intestine	intestine
2	chr3:150166000-150186200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:150166400-150185600	Weak transcription	Lung	lung
4	chr3:150172000-150184800	Weak transcription	Brain Substantia Nigra	brain
5	chr3:150172600-150191600	Weak transcription	Brain Angular Gyrus	brain
6	chr3:150173800-150186400	Weak transcription	Colonic Mucosa	Colon
7	chr3:150174600-150186400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:150175000-150184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:150176600-150186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:150176600-150187000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:150176800-150183000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:150176800-150183200	Weak transcription	Ovary	ovary
13	chr3:150176800-150183600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:150176800-150183600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:150176800-150184400	Weak transcription	Fetal Brain Female	brain
16	chr3:150176800-150185000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:150176800-150185000	Weak transcription	NHEK	skin
18	chr3:150176800-150186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:150176800-150186800	Weak transcription	Primary T cells from cord blood	blood
20	chr3:150176800-150187000	Weak transcription	Fetal Intestine Large	intestine
21	chr3:150176800-150187000	Weak transcription	Left Ventricle	heart
22	chr3:150176800-150187000	Weak transcription	Pancreas	Pancrea
23	chr3:150176800-150187000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:150176800-150187200	Weak transcription	Brain Anterior Caudate	brain
25	chr3:150176800-150187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:150176800-150187200	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:150176800-150187200	Weak transcription	Right Ventricle	heart
28	chr3:150176800-150187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:150176800-150187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:150176800-150187400	Weak transcription	Thymus	Thymus
31	chr3:150176800-150187600	Weak transcription	Esophagus	oesophagus
32	chr3:150176800-150187600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:150177000-150200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:150177200-150183000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:150177200-150185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:150177200-150185200	Weak transcription	HMEC	breast
37	chr3:150177200-150186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:150177200-150186400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:150177200-150187200	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:150177400-150186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:150177400-150187600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:150177600-150185200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:150177600-150186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:150177600-150186400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:150177600-150186400	Weak transcription	Placenta	Placenta
46	chr3:150177800-150185000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:150177800-150185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:150177800-150185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:150177800-150185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:150178200-150185000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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