Variant report

Variant	rs28581818
Chromosome Location	chr2:73040540-73040541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73038855..73041008-chr2:73052979..73054495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144036	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10187814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188019	0.90[AMR][1000 genomes]
rs10195520	0.90[AMR][1000 genomes]
rs10205532	1.00[AMR][1000 genomes]
rs10469964	0.90[AMR][1000 genomes]
rs11126380	0.90[AMR][1000 genomes]
rs11883986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891034	0.87[AFR][1000 genomes]
rs11892199	0.90[AMR][1000 genomes]
rs11894812	0.90[AMR][1000 genomes]
rs11902280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390314	0.90[AMR][1000 genomes]
rs13391151	0.90[AMR][1000 genomes]
rs13397183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399612	0.90[AMR][1000 genomes]
rs13405645	0.90[AMR][1000 genomes]
rs13405937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13416510	1.00[AMR][1000 genomes]
rs6546784	0.90[AMR][1000 genomes]
rs6738020	0.90[AMR][1000 genomes]
rs7563870	0.90[AMR][1000 genomes]
rs7585242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73022400-73042200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:73030600-73040800	Weak transcription	HSMMtube	muscle
3	chr2:73030800-73040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:73030800-73040800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:73034000-73049600	Weak transcription	Right Atrium	heart
6	chr2:73034400-73040600	Weak transcription	Fetal Heart	heart
7	chr2:73034400-73051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:73035000-73040600	Weak transcription	HUVEC	blood vessel
9	chr2:73036200-73042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:73036200-73050000	Weak transcription	Esophagus	oesophagus
11	chr2:73036200-73050600	Weak transcription	Left Ventricle	heart
12	chr2:73036400-73050800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:73036400-73051400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:73036600-73051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:73036800-73040800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:73037000-73040800	Weak transcription	HSMM	muscle
17	chr2:73037000-73041000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:73037000-73041000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:73037000-73042800	Weak transcription	HepG2	liver
20	chr2:73037200-73040800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:73037200-73040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:73037200-73051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:73037400-73042800	Weak transcription	Hela-S3	cervix
24	chr2:73037400-73047200	Weak transcription	Fetal Lung	lung
25	chr2:73037600-73040800	Weak transcription	NHDF-Ad	bronchial
26	chr2:73037600-73045800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:73038200-73041000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:73038200-73044600	Weak transcription	Right Ventricle	heart
29	chr2:73038200-73051200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:73038400-73040800	Weak transcription	NHEK	skin
31	chr2:73038400-73041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:73038400-73045600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:73038400-73048400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:73038400-73051200	Weak transcription	Fetal Stomach	stomach
35	chr2:73038400-73052000	Weak transcription	Aorta	Aorta
36	chr2:73039200-73040800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:73039600-73040600	Weak transcription	A549	lung
38	chr2:73039600-73041800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:73040000-73041800	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:73040200-73041000	Enhancers	Brain Angular Gyrus	brain
41	chr2:73040200-73041800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:73040200-73048200	Weak transcription	Brain Germinal Matrix	brain
43	chr2:73040400-73041400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:73040400-73044800	Weak transcription	Ovary	ovary

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