Variant report

Variant	rs72810320
Chromosome Location	chr2:58277031-58277032
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	chr2:58274389..58277128-chr2:58466604..58469335,2	K562	blood:
2	chr2:58131028..58133565-chr2:58275828..58277987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273063	Chromatin interaction
ENSG00000115392	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10188390	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210198	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10496086	0.94[EUR][1000 genomes]
rs10496087	0.94[EUR][1000 genomes]
rs1078191	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11898024	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465171	0.95[EUR][1000 genomes]
rs12467842	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12469522	0.86[EUR][1000 genomes]
rs12470851	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12471043	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473840	0.86[EUR][1000 genomes]
rs12478718	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13386389	0.89[EUR][1000 genomes]
rs1371212	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1518403	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17049299	0.83[EUR][1000 genomes]
rs17049308	0.86[ASN][1000 genomes]
rs17049312	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049314	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049316	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17049321	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17830749	0.97[EUR][1000 genomes]
rs2118897	0.94[EUR][1000 genomes]
rs34191187	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35876471	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3771203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55723561	0.83[EUR][1000 genomes]
rs55856965	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61548822	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6732965	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67484511	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72810305	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72810306	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72810307	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72810308	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72810316	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72810317	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72810318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810323	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72810325	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810332	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72810334	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72810337	0.88[EUR][1000 genomes]
rs728574	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs968850	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58272600-58277400	Active TSS	GM12878-XiMat	blood
2	chr2:58274600-58283600	Weak transcription	Gastric	stomach
3	chr2:58274600-58298600	Weak transcription	Spleen	Spleen
4	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:58274800-58282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:58274800-58296400	Weak transcription	Ovary	ovary
7	chr2:58274800-58296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
9	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:58275000-58278600	Weak transcription	Brain Substantia Nigra	brain
11	chr2:58275000-58280200	Weak transcription	Fetal Lung	lung
12	chr2:58275000-58282000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:58275000-58282200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:58275000-58282200	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:58275000-58282200	Weak transcription	Left Ventricle	heart
16	chr2:58275000-58283800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:58275000-58285000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:58275000-58285000	Weak transcription	Placenta	Placenta
19	chr2:58275000-58285400	Weak transcription	Fetal Thymus	thymus
20	chr2:58275000-58287800	Weak transcription	Fetal Kidney	kidney
21	chr2:58275000-58290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:58275000-58290800	Weak transcription	Thymus	Thymus
23	chr2:58275000-58291000	Weak transcription	HSMM	muscle
24	chr2:58275000-58297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
26	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
27	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
31	chr2:58275200-58283600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:58275400-58278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:58275400-58281800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:58275400-58283200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:58275400-58283400	Weak transcription	Primary B cells from cord blood	blood
36	chr2:58275400-58283800	Weak transcription	Right Ventricle	heart
37	chr2:58275400-58290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:58275400-58290600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:58275400-58290600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:58275400-58290800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:58275400-58291000	Weak transcription	NH-A	brain
42	chr2:58275400-58294400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:58275600-58278200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:58275600-58278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:58275600-58280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:58275600-58280800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:58275600-58281200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:58275600-58281600	Weak transcription	Fetal Brain Male	brain
49	chr2:58275600-58282000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:58275600-58282200	Weak transcription	H1 Cell Line	embryonic stem cell

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