Variant report

Variant	rs72905080
Chromosome Location	chr2:173971371-173971372
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	chr2:173969673..173972260-chr2:173985916..173987500,2	MCF-7	breast:
2	chr2:173965020..173969595-chr2:173970768..173975249,5	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10930579	0.80[ASN][1000 genomes]
rs12615166	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12616714	0.82[ASN][1000 genomes]
rs12986917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12987496	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997078	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12998711	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13004212	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017210	0.83[AFR][1000 genomes]
rs13017438	0.80[ASN][1000 genomes]
rs13022800	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13029949	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13032010	0.84[ASN][1000 genomes]
rs16861272	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17302977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076857	0.85[ASN][1000 genomes]
rs2289397	0.80[ASN][1000 genomes]
rs2289399	0.80[ASN][1000 genomes]
rs34472765	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34681024	0.82[ASN][1000 genomes]
rs34702663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34862313	0.82[AMR][1000 genomes]
rs35250703	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35599077	0.84[ASN][1000 genomes]
rs36102078	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103648	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3754741	0.80[ASN][1000 genomes]
rs3754743	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3754744	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3769167	0.80[ASN][1000 genomes]
rs3769187	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3769192	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769194	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3769199	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769203	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55913048	0.80[ASN][1000 genomes]
rs56151459	0.84[ASN][1000 genomes]
rs56193548	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433395	0.92[ASN][1000 genomes]
rs6741675	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67422536	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71417423	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72905046	0.91[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
3	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
5	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:173955600-173971800	Weak transcription	Lung	lung
8	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:173955600-173984000	Weak transcription	Gastric	stomach
10	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
12	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
13	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
15	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:173958200-173973800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:173958200-173974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:173959800-173974200	Weak transcription	HepG2	liver
20	chr2:173961400-173973400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:173961800-173974400	Weak transcription	NHLF	lung
22	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:173964600-173971600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:173965000-173974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:173965400-173971400	Weak transcription	HMEC	breast
27	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
28	chr2:173965400-173987200	Weak transcription	Dnd41	blood
29	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:173965600-173973800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:173966800-173973800	Weak transcription	NHEK	skin
33	chr2:173967000-173972600	Weak transcription	Osteobl	bone
34	chr2:173967200-173971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:173967200-173973200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:173967200-173973200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:173967600-173973800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:173968000-173971600	Weak transcription	K562	blood
39	chr2:173968200-173974600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:173968600-173973600	Weak transcription	GM12878-XiMat	blood
41	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:173969400-173973400	Weak transcription	NH-A	brain
44	chr2:173970000-173971800	Weak transcription	Right Ventricle	heart
45	chr2:173970000-173973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:173970000-173983200	Weak transcription	Right Atrium	heart
47	chr2:173970200-173971400	Weak transcription	Left Ventricle	heart
48	chr2:173970200-173971600	Weak transcription	Psoas Muscle	Psoas
49	chr2:173971000-173971600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:173971000-173971800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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