Variant report

Variant	rs72827742
Chromosome Location	chr2:99425363-99425364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99425256..99428076-chr2:99429019..99431103,2	K562	blood:
2	chr2:99412276..99414413-chr2:99425331..99428982,3	MCF-7	breast:
3	chr2:99419187..99420938-chr2:99424125..99425695,2	MCF-7	breast:
4	chr2:99422357..99424127-chr2:99425278..99427119,2	MCF-7	breast:
5	chr2:99346314..99348268-chr2:99425170..99426808,2	MCF-7	breast:
6	chr2:99408029..99409823-chr2:99425187..99427144,2	MCF-7	breast:
7	chr2:99346420..99348928-chr2:99424461..99427357,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2090181	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203432	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871243	0.87[ASN][1000 genomes]
rs2871244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731660	0.87[ASN][1000 genomes]
rs4851160	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185248	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58516468	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58560917	0.83[ASN][1000 genomes]
rs59083513	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313126	0.81[ASN][1000 genomes]
rs59989465	0.81[ASN][1000 genomes]
rs61042973	0.83[ASN][1000 genomes]
rs61311613	0.87[ASN][1000 genomes]
rs61359279	0.83[ASN][1000 genomes]
rs61402919	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811003	0.85[ASN][1000 genomes]
rs72811004	0.85[ASN][1000 genomes]
rs72811005	0.85[ASN][1000 genomes]
rs72827726	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827727	0.81[ASN][1000 genomes]
rs72827728	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72827729	0.85[ASN][1000 genomes]
rs72827731	0.85[ASN][1000 genomes]
rs72827732	0.85[ASN][1000 genomes]
rs72827733	0.85[ASN][1000 genomes]
rs72827734	0.83[ASN][1000 genomes]
rs72827736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827739	0.87[ASN][1000 genomes]
rs72827740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827741	0.87[ASN][1000 genomes]
rs72827743	0.87[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	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
2	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
3	chr2:99414000-99426600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
5	chr2:99420800-99426800	Enhancers	Fetal Thymus	thymus
6	chr2:99421200-99427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:99422800-99426600	Weak transcription	Aorta	Aorta
8	chr2:99423000-99426400	Weak transcription	Gastric	stomach
9	chr2:99423000-99432200	Weak transcription	Right Atrium	heart
10	chr2:99423200-99426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:99423200-99426400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:99423200-99427000	Weak transcription	Fetal Kidney	kidney
13	chr2:99423400-99425400	Weak transcription	HepG2	liver
14	chr2:99423400-99426400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:99423400-99439200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:99423600-99439200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:99423800-99426600	Weak transcription	Spleen	Spleen
18	chr2:99423800-99434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:99424000-99425400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:99424000-99426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:99424000-99426200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:99424000-99426200	Weak transcription	Fetal Lung	lung
23	chr2:99424000-99426600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:99424000-99426800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:99424000-99432000	Weak transcription	Right Ventricle	heart
26	chr2:99424000-99435600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:99424000-99438400	Weak transcription	Pancreas	Pancrea
28	chr2:99424400-99425400	Weak transcription	Thymus	Thymus
29	chr2:99424400-99425600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:99424400-99426000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:99424600-99426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr2:99424800-99434800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:99425000-99425600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:99425000-99426000	Genic enhancers	Lung	lung
35	chr2:99425000-99426200	Weak transcription	HMEC	breast
36	chr2:99425000-99426400	Strong transcription	Fetal Intestine Small	intestine

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