Variant report

Variant	rs60066950
Chromosome Location	chr7:137590663-137590664
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137584438..137586090-chr7:137588352..137591212,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10232374	1.00[EUR][1000 genomes]
rs10272404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279567	1.00[EUR][1000 genomes]
rs12112479	1.00[EUR][1000 genomes]
rs56180308	1.00[EUR][1000 genomes]
rs56206871	1.00[EUR][1000 genomes]
rs56249419	1.00[EUR][1000 genomes]
rs56364819	1.00[EUR][1000 genomes]
rs58021602	0.92[EUR][1000 genomes]
rs58643157	1.00[EUR][1000 genomes]
rs58766863	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58888708	1.00[EUR][1000 genomes]
rs59690824	0.85[EUR][1000 genomes]
rs60325918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61652269	1.00[EUR][1000 genomes]
rs73729092	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729518	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729519	1.00[EUR][1000 genomes]
rs73729520	1.00[EUR][1000 genomes]
rs73729521	0.85[EUR][1000 genomes]
rs73729522	1.00[EUR][1000 genomes]
rs73729523	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137575400-137591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:137584200-137601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
4	chr7:137584400-137591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:137584400-137593200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr7:137584400-137597200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:137584400-137601600	Strong transcription	Fetal Intestine Large	intestine
8	chr7:137584600-137591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:137584600-137591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:137584600-137592800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:137584600-137593000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:137584600-137593400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
14	chr7:137584800-137593000	Strong transcription	Ovary	ovary
15	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
16	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:137585200-137591600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:137585200-137601000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:137585200-137606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:137586200-137592600	Weak transcription	Right Ventricle	heart
21	chr7:137586200-137599200	Weak transcription	HMEC	breast
22	chr7:137587600-137600200	Strong transcription	Left Ventricle	heart
23	chr7:137587800-137591800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr7:137588600-137590800	Strong transcription	Thymus	Thymus
25	chr7:137588600-137593200	Strong transcription	Aorta	Aorta
26	chr7:137588800-137591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:137588800-137591800	Strong transcription	Primary B cells from cord blood	blood
28	chr7:137588800-137591800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:137588800-137593000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:137588800-137599800	Weak transcription	NHEK	skin
31	chr7:137588800-137600800	Strong transcription	Adipose Nuclei	Adipose
32	chr7:137588800-137600800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr7:137588800-137601400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:137588800-137601600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:137588800-137603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:137588800-137603400	Strong transcription	Fetal Intestine Small	intestine
37	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
39	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:137588800-137620200	Weak transcription	Dnd41	blood
41	chr7:137589000-137591200	Strong transcription	Fetal Thymus	thymus
42	chr7:137589000-137591600	Weak transcription	NHDF-Ad	bronchial
43	chr7:137589000-137592600	Strong transcription	K562	blood
44	chr7:137589000-137592800	Strong transcription	Placenta	Placenta
45	chr7:137589000-137592800	Strong transcription	Osteobl	bone
46	chr7:137589000-137593800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:137589000-137594000	Weak transcription	A549	lung
48	chr7:137589000-137600800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:137589000-137601000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:137589000-137601600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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