Variant report

Variant	rs57726945
Chromosome Location	chr2:73334845-73334846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73324567..73327091-chr2:73333626..73336364,2	MCF-7	breast:
2	chr2:73332810..73335767-chr2:73335850..73338360,4	K562	blood:
3	chr2:73333784..73336405-chr21:43762109..43763730,2	MCF-7	breast:
4	chr2:73330344..73333243-chr2:73334640..73337340,3	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10167566	0.88[ASN][1000 genomes]
rs10174548	0.93[ASN][1000 genomes]
rs10180720	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180995	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10190861	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192077	0.84[EUR][1000 genomes]
rs10203608	0.89[ASN][1000 genomes]
rs1046186	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865396	0.92[ASN][1000 genomes]
rs11126389	0.92[ASN][1000 genomes]
rs11686557	0.97[ASN][1000 genomes]
rs11885522	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12104691	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12614059	0.94[ASN][1000 genomes]
rs13018842	0.92[ASN][1000 genomes]
rs13019020	0.81[ASN][1000 genomes]
rs13385994	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13390072	0.85[EUR][1000 genomes]
rs13391532	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13393567	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13400920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13400948	0.88[ASN][1000 genomes]
rs13403757	0.88[ASN][1000 genomes]
rs13403781	0.87[ASN][1000 genomes]
rs13407719	0.88[ASN][1000 genomes]
rs13416407	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13427947	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430349	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1430350	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430351	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17008631	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864488	0.99[ASN][1000 genomes]
rs1992133	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35131031	0.88[ASN][1000 genomes]
rs3813222	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3813223	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3901273	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144837	0.82[EUR][1000 genomes]
rs4591365	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55894650	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57536428	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57701326	0.96[ASN][1000 genomes]
rs57937746	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6546800	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6546801	0.99[ASN][1000 genomes]
rs6710739	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6710755	0.99[ASN][1000 genomes]
rs6712925	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6713655	0.85[EUR][1000 genomes]
rs6720817	0.88[ASN][1000 genomes]
rs6727269	0.84[EUR][1000 genomes]
rs6727919	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6729266	0.89[ASN][1000 genomes]
rs6736153	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6749237	0.88[ASN][1000 genomes]
rs6754779	0.85[EUR][1000 genomes]
rs6754858	0.85[EUR][1000 genomes]
rs727470	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs727471	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557173	0.93[ASN][1000 genomes]
rs7559074	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559340	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566904	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7567413	0.81[ASN][1000 genomes]
rs7570459	0.81[ASN][1000 genomes]
rs7593322	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7596830	0.81[ASN][1000 genomes]
rs7599657	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7602651	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891432	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs891433	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9309471	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:73327000-73338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73329400-73338200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:73329600-73337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73329800-73337800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73330400-73337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:73330400-73337400	Weak transcription	Fetal Lung	lung
10	chr2:73330600-73337800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:73330800-73335400	Strong transcription	Fetal Intestine Small	intestine
12	chr2:73330800-73336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:73330800-73337800	Enhancers	Placenta	Placenta
14	chr2:73330800-73338200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:73331200-73336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:73331200-73337000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:73331200-73337600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:73331200-73337600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:73331400-73337200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:73332200-73335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:73332200-73336400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:73332400-73335400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73332400-73337600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:73332600-73335400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:73332800-73335200	Enhancers	Esophagus	oesophagus
26	chr2:73332800-73335800	Enhancers	Right Ventricle	heart
27	chr2:73332800-73336000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:73332800-73337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73332800-73337400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:73333000-73335400	Enhancers	Osteobl	bone
31	chr2:73333000-73335600	Enhancers	NHLF	lung
32	chr2:73333000-73335800	Enhancers	HSMM	muscle
33	chr2:73333000-73335800	Genic enhancers	NHEK	skin
34	chr2:73333200-73335800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:73333200-73335800	Enhancers	Spleen	Spleen
36	chr2:73333400-73335600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:73333600-73336000	Enhancers	Fetal Muscle Leg	muscle
38	chr2:73333800-73335200	Enhancers	Adipose Nuclei	Adipose
39	chr2:73333800-73335200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr2:73333800-73335400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:73333800-73335800	Enhancers	Fetal Heart	heart
42	chr2:73333800-73335800	Enhancers	Pancreas	Pancrea
43	chr2:73333800-73335800	Enhancers	HSMMtube	muscle
44	chr2:73333800-73337800	Enhancers	HepG2	liver
45	chr2:73334000-73335200	Enhancers	Colon Smooth Muscle	Colon
46	chr2:73334000-73335200	Enhancers	Left Ventricle	heart
47	chr2:73334000-73335400	Enhancers	Lung	lung
48	chr2:73334000-73335600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:73334000-73335800	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:73334000-73335800	Enhancers	NH-A	brain

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