Variant report

Variant	rs7599657
Chromosome Location	chr2:73330443-73330444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10174548	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10180720	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10180995	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10190861	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10192077	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10203608	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1036512	0.81[AMR][1000 genomes]
rs1046186	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10865396	0.89[ASN][1000 genomes]
rs11126389	0.89[ASN][1000 genomes]
rs11686557	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11885522	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104691	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12614059	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13018842	0.89[ASN][1000 genomes]
rs13385994	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13390072	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13391532	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13400920	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13400948	0.92[ASN][1000 genomes]
rs13403757	0.92[ASN][1000 genomes]
rs13403781	0.91[ASN][1000 genomes]
rs13407719	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13416407	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13427947	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430349	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430350	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430351	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008631	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1864488	0.96[ASN][1000 genomes]
rs1992133	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35131031	0.86[ASN][1000 genomes]
rs3813222	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813223	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3901273	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144837	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4591365	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894650	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55974516	0.83[AMR][1000 genomes]
rs57536428	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57701326	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57726945	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57937746	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61161134	0.81[AMR][1000 genomes]
rs6546800	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546801	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6710739	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6710755	0.96[ASN][1000 genomes]
rs6712925	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713655	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6719333	0.81[AMR][1000 genomes]
rs6720817	0.92[ASN][1000 genomes]
rs6727269	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6727919	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729266	0.93[ASN][1000 genomes]
rs6736153	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6749237	0.92[ASN][1000 genomes]
rs6754779	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6754858	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs727470	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727471	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7557173	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7559074	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559340	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7566904	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593322	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7602651	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs891432	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891433	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309471	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:87 , 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	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
4	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:73318400-73331800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:73318600-73334400	Weak transcription	HMEC	breast
7	chr2:73320200-73332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:73320600-73332800	Weak transcription	Esophagus	oesophagus
9	chr2:73320800-73332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:73320800-73334400	Weak transcription	Aorta	Aorta
11	chr2:73321600-73332800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:73322400-73334600	Weak transcription	Psoas Muscle	Psoas
13	chr2:73326800-73332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:73327000-73334400	Strong transcription	Fetal Stomach	stomach
15	chr2:73327000-73338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:73328200-73332800	Enhancers	Spleen	Spleen
17	chr2:73328600-73330600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:73328600-73330800	Enhancers	NH-A	brain
19	chr2:73328600-73330800	Enhancers	Osteobl	bone
20	chr2:73328800-73330600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:73328800-73330600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:73328800-73330600	Enhancers	Right Ventricle	heart
23	chr2:73328800-73331200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:73328800-73331200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:73328800-73331200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:73328800-73331200	Enhancers	HUVEC	blood vessel
27	chr2:73328800-73331400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:73329000-73330800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:73329000-73331800	Strong transcription	HepG2	liver
30	chr2:73329000-73333000	Weak transcription	NHEK	skin
31	chr2:73329000-73334800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:73329200-73330800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:73329200-73331000	Enhancers	Fetal Intestine Large	intestine
34	chr2:73329200-73331200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:73329200-73331200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:73329400-73330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:73329400-73331000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:73329400-73331200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:73329400-73332200	Weak transcription	NHDF-Ad	bronchial
40	chr2:73329400-73332800	Weak transcription	HSMMtube	muscle
41	chr2:73329400-73338200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:73329600-73330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:73329600-73330800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:73329600-73331400	Enhancers	Hela-S3	cervix
45	chr2:73329600-73331800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:73329600-73337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:73329800-73330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:73329800-73330600	Enhancers	Adipose Nuclei	Adipose
49	chr2:73329800-73331200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:73329800-73334200	Weak transcription	Brain Hippocampus Middle	brain

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