Variant report

Variant	rs72827743
Chromosome Location	chr2:99426720-99426721
allele	A/G
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	chr2:99422357..99424127-chr2:99425278..99427119,2	MCF-7	breast:
4	chr2:99346314..99348268-chr2:99425170..99426808,2	MCF-7	breast:
5	chr2:99408029..99409823-chr2:99425187..99427144,2	MCF-7	breast:
6	chr2:99346420..99348928-chr2:99424461..99427357,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2090181	0.87[ASN][1000 genomes]
rs2203432	0.87[ASN][1000 genomes]
rs2871243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871244	0.87[ASN][1000 genomes]
rs3731660	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851160	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57185248	0.81[ASN][1000 genomes]
rs58516468	0.81[ASN][1000 genomes]
rs58560917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58676789	0.89[ASN][1000 genomes]
rs59083513	0.87[ASN][1000 genomes]
rs59313126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60496162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61042973	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61311613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61402919	0.87[ASN][1000 genomes]
rs72811003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72811004	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827717	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827722	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827724	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827726	0.81[ASN][1000 genomes]
rs72827727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827736	0.85[ASN][1000 genomes]
rs72827739	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827740	0.87[ASN][1000 genomes]
rs72827741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827742	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99420800-99426800	Enhancers	Fetal Thymus	thymus
3	chr2:99421200-99427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:99423000-99432200	Weak transcription	Right Atrium	heart
5	chr2:99423200-99427000	Weak transcription	Fetal Kidney	kidney
6	chr2:99423400-99439200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:99423600-99439200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:99423800-99434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:99424000-99426800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:99424000-99432000	Weak transcription	Right Ventricle	heart
11	chr2:99424000-99435600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:99424000-99438400	Weak transcription	Pancreas	Pancrea
13	chr2:99424800-99434800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:99425400-99427200	Enhancers	HepG2	liver
15	chr2:99426000-99426800	Enhancers	Brain Anterior Caudate	brain
16	chr2:99426200-99426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:99426200-99426800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:99426200-99426800	Enhancers	HMEC	breast
19	chr2:99426400-99426800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:99426400-99426800	Enhancers	Esophagus	oesophagus
21	chr2:99426400-99426800	Genic enhancers	Fetal Intestine Small	intestine
22	chr2:99426400-99426800	Enhancers	Gastric	stomach
23	chr2:99426400-99427000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:99426400-99427400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:99426400-99427600	Enhancers	Fetal Intestine Large	intestine
26	chr2:99426600-99426800	Enhancers	Spleen	Spleen
27	chr2:99426600-99427200	Enhancers	Aorta	Aorta
28	chr2:99426600-99427600	Enhancers	Lung	lung
29	chr2:99426600-99427600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:99426600-99427600	Enhancers	Rectal Mucosa Donor 31	rectum

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